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The search results on this publication page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.
Undiagnosed Diseases (504)
| Publication Title | Authors | Journal | Publication Date | Page No | PubMedID |
|---|---|---|---|---|---|
| Exome/Genome Sequencing in Undiagnosed Syndromes. | Sullivan, Jennifer A; Schoch, Kelly; Spillmann, Rebecca C; Shashi, Vandana | Annual review of medicine | 2023 Jan 27 | 489-502 | 36706750 |
| Piezo mechanosensory channels regulate centrosome integrity and mitotic entry. | David, Liron; Martinez, Laurel; Xi, Qiongchao; Kooshesh, Kameron A; Zhang, Ying; Shah, Jagesh V; Maas, Richard L; Wu, Hao | Proceedings of the National Academy of Sciences of the United States of America | 2023 Jan 03 | e2213846120 | 36574677 |
| RNA Sequencing as a Diagnostic Tool. | Ketkar, Shamika; Burrage, Lindsay C; Lee, Brendan | JAMA | 2023 Jan 03 | 85-86 | 36525251 |
| A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. | Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong-Hui; Phillips, John A; Jones, Melissa S; Liu, Pengfei; Murdock, David R; Burrage, Lindsay C; Lee, Brendan; Rosenfeld, Jill A; Xiao, Rui; Undiagnosed Diseases Network | Human mutation | 2022 Nov 01 | 36317458 | |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. | Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A; Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 Oct | 36205747 | |
| Promoting validation and cross-phylogenetic integration in model organism research. | Cheng, Keith C; Burdine, Rebecca D; Dickinson, Mary E; Ekker, Stephen C; Lin, Alex Y; Lloyd, K C Kent; Lutz, Cathleen M; MacRae, Calum A; Morrison, John H; O'Connor, David H; Postlethwait, John H; Rogers, Crystal D; Sanchez, Susan; Simpson, Julie H; Talbot, William S; Wallace, Douglas C; Weimer, Jill M; Bellen, Hugo J | Disease models & mechanisms | 2022 09 01 | 36125045 | |
| Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease. | Young, Jennifer L; Halley, Meghan C; Anguiano, Beatriz; Fernandez, Liliana; Bernstein, Jonathan A; Wheeler, Matthew T; Tabor, Holly K; Undiagnosed Diseases Network Consortium | Frontiers in genetics | 2022 | 36072659 | |
| The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. | Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J | American journal of human genetics | 2022 Oct 06 | 36067766 | |
| L-2-Hydroxyglutarate Protects Against Cardiac Injury via Metabolic Remodeling. | He, Huamei; Mulhern, Ryan M; Oldham, William M; Xiao, Wusheng; Lin, Yi-Dong; Liao, Ronglih; Loscalzo, Joseph | Circulation research | 2022 Sep 16 | 36043417 | |
| Identification of potent inhibitors of SARS-CoV-2 infection by combined pharmacological evaluation and cellular network prioritization. | Patten, J J; Keiser, Patrick T; Morselli-Gysi, Deisy; Menichetti, Giulia; Mori, Hiroyuki; Donahue, Callie J; Gan, Xiao; Valle, Italo do; Geoghegan-Barek, Kathleen; Anantpadma, Manu; Boytz, RuthMabel; Berrigan, Jacob L; Stubbs, Sarah H; Ayazika, Tess; O'Leary, Colin; Jalloh, Sallieu; Wagner, Florence; Ayehunie, Seyoum; Elledge, Stephen J; Anderson, Deborah; Loscalzo, Joseph; Zitnik, Marinka; Gummuluru, Suryaram; Namchuk, Mark N; Barabási, Albert-László; Davey, Robert A | iScience | 2022 Sep 16 | 35992305 | |
| Behavioral and molecular effects of Ubtf knockout and knockdown in mice. | Hori, Roderick T; Moshahid Khan, Mohammad; Xiao, Jianfeng; Hargrove, Phillip W; Moss, Tom; LeDoux, Mark S | Brain research | 2022 10 15 | 35973608 | |
| Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. | Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E; O'Heir, Emily; O'Donnell-Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S; Chao, Hsiao-Tuan; Pham, Lisa; Samaco, Rodney C; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise; Lee, Brendan; Lalani, Seema R; Rosenfeld, Jill A; Olson, Heather E; Burrage, Lindsay C; Undiagnosed Diseases Network | American journal of medical genetics. Part A | 2022 Aug 07 | 35934918 | |
| Expression of CD70 Modulates Nitric Oxide and Redox Status in Endothelial Cells. | Pandey, Arvind K; Waldeck-Weiermair, Markus; Wells, Quinn S; Xiao, Wusheng; Yadav, Shambhu; Eroglu, Emrah; Michel, Thomas; Loscalzo, Joseph | Arteriosclerosis, thrombosis, and vascular biology | 2022 Sep | 35924558 | |
| Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. | Fazal, Sarah; Danzi, Matt C; van Kuilenburg, André B P; Reich, Selina; Traschütz, Andreas; Bender, Benjamin; Leen, René; Toro, Camilo; Usdin, Karen; Hayward, Bruce; Adams, David R; van Karnebeek, Clara D M; Ferreira, Carlos R; D'Sousa, Precilla; Network, Undiagnosed Diseases; Tekin, Mustafa; Züchner, Stephan; Synofzik, Matthis | Human molecular genetics | 2023 Jan 01 | 46-54 | 35913761 |
| Supporting undiagnosed participants when clinical genomics studies end. | Halley, Meghan C; Ashley, Euan A; Tabor, Holly K | Nature genetics | 2022 Aug | 35902745 | |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Kozycki, Christina Torres; Kodati, Shilpa; Huryn, Laryssa; Wang, Hongying; Warner, Blake M; Jani, Priyam; Hammoud, Dima; Abu-Asab, Mones S; Jittayasothorn, Yingyos; Mattapallil, Mary J; Tsai, Wanxia Li; Ullah, Ehsan; Zhou, Ping; Tian, Xiaoying; Soldatos, Ariane; Moutsopoulos, Niki; Kao-Hsieh, Marie; Heller, Theo; Cowen, Edward W; Lee, Chyi-Chia Richard; Toro, Camilo; Kalsi, Shelley; Khavandgar, Zohreh; Baer, Alan; Beach, Margaret; Long Priel, Debra; Nehrebecky, Michele; Rosenzweig, Sofia; Romeo, Tina; Deuitch, Natalie; Brenchley, Laurie; Pelayo, Eileen; Zein, Wadih; Sen, Nida; Yang, Alexander H; Farley, Gary; Sweetser, David A; Briere, Lauren; Yang, Janine; de Oliveira Poswar, Fabiano; Schwartz, Ida Vanessa D; Silva Alves, Tamires; Dusser, Perrine; Koné-Paut, Isabelle; Touitou, Isabelle; Titah, Salah Mohamed; van Hagen, Petrus Martin; van Wijck, Rogier T A; van der Spek, Peter J; Yano, Hiromi; Benneche, Andreas; Apalset, Ellen M; Jansson, Ragnhild Wivestad; Caspi, Rachel R; Kuhns, Douglas Byron; Gadina, Massimo; Takada, Hidetoshi; Ida, Hiroaki; Nishikomori, Ryuta; Verrecchia, Elena; Sangiorgi, Eugenio; Manna, Raffaele; Brooks, Brian P; Sobrin, Lucia; Hufnagel, Robert B; Beck, David; Shao, Feng; Ombrello, Amanda K; Aksentijevich, Ivona; Kastner, Daniel L; Undiagnosed Diseases Network | Annals of the rheumatic diseases | 2022 Oct | 35868845 | |
| Adults with lysosomal storage diseases in the undiagnosed diseases network. | Xiao, Changrui; Koziura, Mary; Cope, Heidi; Spillman, Rebecca; Tan, Khoon; Hisama, Fuki M; Tifft, Cynthia J; Toro, Camilo | Molecular genetics & genomic medicine | 2022 Jul 18 | 35848209 | |
| What Causes Hypertrophic Cardiomyopathy? | Maron, Bradley A; Wang, Rui-Sheng; Carnethon, Mercedes R; Rowin, Ethan J; Loscalzo, Joseph; Maron, Barry J; Maron, Martin S | The American journal of cardiology | 2022 Sep 15 | 35843734 | |
| Multiplex Hextuple Luciferase Assaying. | Sarrion-Perdigones, Alejandro; Gonzalez, Yezabel; Chang, Lyra; Gallego-Flores, Tatiana; Young, Damian W; Venken, Koen J T | Methods in molecular biology (Clifton, N.J.) | 2022 | 35821491 | |
| Synthetic Assembly DNA Cloning of Multiplex Hextuple Luciferase Reporter Plasmids. | Sarrion-Perdigones, Alejandro; Gonzalez, Yezabel; Venken, Koen J T | Methods in molecular biology (Clifton, N.J.) | 2022 | 35821490 | |
| Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS). | Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Abou Jamra, Rami; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna C E; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Undiagnosed Disease Network; Qebibo, Leila; Wieczorek, Dagmar; Cravatt, Benjamin; Haricharan, Svasti; Torkamani, Ali; Friedman, Jennifer | Brain : a journal of neurology | 2022 Jun 23 | 35737950 | |
| Beyond Race: A Wake-up Call for Drug Therapy Informed by Genotyping. | Sirugo, Giorgio; Wonkam, Ambroise | Annals of internal medicine | 2022 08 | 35724383 | |
| An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR-mediated homologous recombination. | Kanca, Oguz; Zirin, Jonathan; Hu, Yanhui; Tepe, Burak; Dutta, Debdeep; Lin, Wen-Wen; Ma, Liwen; Ge, Ming; Zuo, Zhongyuan; Liu, Lu-Ping; Levis, Robert W; Perrimon, Norbert; Bellen, Hugo J | eLife | 2022 06 20 | 35723254 | |
| The role of glutathione peroxidase-1 in health and disease. | Handy, Diane E; Loscalzo, Joseph | Free radical biology & medicine | 2022 08 01 | 35691509 | |
| An Active Learning Framework Improves Tumor Variant Interpretation. | Blee, Alexandra M; Li, Bian; Pecen, Turner; Meiler, Jens; Nagel, Zachary D; Capra, John A; Chazin, Walter J | Cancer research | 2022 Aug 03 | 35687855 | |
| Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy. | De Jong, Hannah N; Dewey, Frederick E; Cordero, Pablo; Victorio, Rachelle A; Kirillova, Anna; Huang, Yong; Madhvani, Roshni; Seo, Kinya; Werdich, Andreas A; Lan, Feng; Orcholski, Mark; Liu, W Robert; Erbilgin, Ayca; Wheeler, Matthew T; Chen, Rui; Pan, Stephen; Kim, Young M; Bommakanti, Krishna; Marcou, Cherisse A; Bos, J Martijn; Haddad, Francois; Ackerman, Michael; Vasan, Ramachandran S; MacRae, Calum; Wu, Joseph C; de Jesus Perez, Vinicio; Snyder, Michael; Parikh, Victoria N; Ashley, Euan A | Circulation. Genomic and precision medicine | 2022 08 | 35671065 | |
| A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. | Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli-Dipple, Angela; Voisset, Cécile; Walker, Melissa A; Briere, Lauren C; Bourhis, Amélie; Blondel, Marc; LeDuc, Charles; Hagen, Jacob; Cooper, Cathleen; Muraresku, Colleen; Ferec, Claude; Garenne, Armelle; Lelez-Soquet, Servane; Rogers, Cassandra A; Shen, Yufeng; Strode, Dana K; Bizargity, Peyman; Iglesias, Alejandro; Goldstein, Amy; High, Frances A; Network, Undiagnosed Diseases; Sweetser, David A; Ganetzky, Rebecca; Van Hove, Johan L K; Procaccio, Vincent; Le Marechal, Cedric; Chung, Wendy K | Journal of inherited metabolic disease | 2022 09 | 35621276 | |
| Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease. | Laster, Marciana L; Rowan, Bryce; Chen, Hua-Chang; Schwantes-An, Tae-Hwi; Sheng, Xin; Friedman, Peter A; Ikizler, T Alp; Sinshiemer, Janet S; Ix, Joachim H; Susztak, Katalin; de Boer, Ian H; Kestenbaum, Bryan; Hung, Adriana; Moe, Sharon M; Perwad, Farzana; Robinson-Cohen, Cassianne | The Journal of clinical endocrinology and metabolism | 2022 08 18 | 35587600 | |
| 'Fly-ing' from rare to common neurodegenerative disease mechanisms. | Ma, Mengqi; Moulton, Matthew J; Lu, Shenzhao; Bellen, Hugo J | Trends in genetics : TIG | 2022 Sep | 35484057 | |
| A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. | Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A; Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 07 | 35482014 | |
| Adhesion G Protein-Coupled Receptors: Structure, Signaling, Physiology and Pathophysiology. | Hall, Randy A; Lala, Trisha | Physiological reviews | 2022 Apr 25 | 35468004 | |
| Comprehensive network medicine-based drug repositioning via integration of therapeutic efficacy and side effects. | Paci, Paola; Fiscon, Giulia; Conte, Federica; Wang, Rui-Sheng; Handy, Diane E; Farina, Lorenzo; Loscalzo, Joseph | NPJ systems biology and applications | 2022 Apr 20 | 35443763 | |
| The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. | Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Undiagnosed Diseases Network ; Ariani, Francesca; Renieri, Alessandra; Mari, Francesca; Wangler, Michael F; Arur, Swathi; Jiang, Yong-Hui; Yamamoto, Shinya; Shashi, Vandana; Bellen, Hugo J | Human molecular genetics | 2022 Aug 25 | 35405010 | |
| A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. | Merriweather, Ashanta; Murdock, David R; Rosenfeld, Jill A; Dai, Hongzheng; Ketkar, Shamika; Emrick, Lisa; Nicholas, Sarah; Lewis, Richard A; Undiagnosed Diseases Network; Bacino, Carlos A; Scott, Daryl A; Lee, Brendan; Sutton, Vernon Reid; Potocki, Lorraine; Burrage, Lindsay C | American journal of medical genetics. Part A | 2022 Apr 09 | 35396900 | |
| Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. | Schuler, Bryce A; Nelson, Erica T; Koziura, Mary; Cogan, Joy D; Hamid, Rizwan; Phillips 3rd, John A | The Journal of clinical investigation | 2022 Apr 01 | 35362483 | |
| Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. | Fielder, Sara M; Rosenfeld, Jill A; Burrage, Lindsay C; Emrick, Lisa; Lalani, Seema; Attali, Ruben; Bembenek, Joshua N; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Undiagnosed Diseases Network; Schedl, Tim; Pak, Stephen C | Molecular genetics and metabolism | 2022 05 | 35361529 | |
| A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States. | Halley, Meghan C; Smith, Hadley Stevens; Ashley, Euan A; Goldenberg, Aaron J; Tabor, Holly K | Nature genetics | 2022 Mar | 35256804 | |
| Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. | Borja, Nicholas; Bivona, Stephanie; Peart, Lé Shon; Johnson, Brittany; Gonzalez, Joanna; Barbouth, Deborah; Moore, Henry; Guo, Shengru; Undiagnosed Disease Network; Bademci, Guney; Tekin, Mustafa | Molecular genetics & genomic medicine | 2022 Apr | 35247231 | |
| De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila. | Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C; Kanca, Oguz; Rapp, Michele; Fock, Johanna M; Kamsteeg, Erik-Jan; Lupski, James R; Larson, Austin; Haninbal, Mark C; Bellen, Hugo; Harel, Tamar | Human molecular genetics | 2022 Sep 29 | 35234901 | |
| ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research. | Harnish, J Michael; Li, Lucian; Rogic, Sanja; Poirier-Morency, Guillaume; Kim, Seon-Young; Undiagnosed Diseases Network; Boycott, Kym M; Wangler, Michael F; Bellen, Hugo J; Hieter, Philip; Pavlidis, Paul; Liu, Zhandong; Yamamoto, Shinya | Human mutation | 2022 Feb 27 | 35224820 | |
| Toward transcriptomics as a primary tool for rare disease investigation. | Montgomery, Stephen B; Bernstein, Jonathan A; Wheeler, Matthew T | Cold Spring Harbor molecular case studies | 2022 02 | 35217565 | |
| PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. | Magyar, Christina L; Murdock, David R; Burrage, Lindsay C; Dai, Hongzheng; Lalani, Seema R; Lewis, Richard A; Lin, Yuezhen; Astudillo, Marcela F; Rosenfeld, Jill A; Tran, Alyssa A; Gibson, James B; Undiagnosed Diseases Network; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan | American journal of medical genetics. Part A | 2022 Feb 23 | 35194938 | |
| Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome. | Tremblay, Michel G; Sibai, Dany S; Valère, Melissa; Mars, Jean-Clément; Lessard, Frédéric; Hori, Roderick T; Khan, Mohammad Moshahid; Stefanovsky, Victor Y; LeDoux, Mark S; Moss, Tom | PLoS genetics | 2022 Feb | 35139074 | |
| A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. | Huang, Huiyan; Pan, Jiehong; Spielberg, David R; Hanchard, Neil A; Scott, Daryl A; Burrage, Lindsay C; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A; Dawson, Zachary D; Hu, Alex Z; Tycksen, Eric; Silverman, Gary A; Baldridge, Dustin; Wambach, Jennifer A; Undiagnosed Diseases Network; Pak, Stephen C; Brody, Steven L; Schedl, Tim | Proceedings of the National Academy of Sciences of the United States of America | 2022 Feb 08 | 35121658 | |
| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. | Kurolap, Alina; Kreuder, Florian; Gonzaga-Jauregui, Claudia; Duvdevani, Morasha Plesser; Harel, Tamar; Tammer, Luna; Xin, Baozhong; Bakhtiari, Somayeh; Rice, James; van Eyk, Clare L; Gecz, Jozef; Mah, Jean K; Atkinson, Derek; Cope, Heidi; Sullivan, Jennifer A; Douek, Alon M; Colquhoun, Daniel; Henry, Jason; Wlodkowic, Donald; Parman, Yesim; Candayan, Ayşe; Kocasoy-Orhan, Elif; Ilivitzki, Anat; Soudry, Shiri; Leibu, Rina; Glaser, Fabian; Sency, Valerie; Undiagnosed Diseases Network; Ast, Gil; Shashi, Vandana; Fahey, Michael C; Battaloğlu, Esra; Jordanova, Albena; Meiner, Vardiella; Innes, A Micheil; Wang, Heng; Elpeleg, Orly; Kruer, Michael C; Kaslin, Jan; Baris Feldman, Hagit | American journal of human genetics | 2022 Mar 03 | 35108495 | |
| What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing? | Murdock, David R; Rosenfeld, Jill A; Lee, Brendan | Annual review of medicine | 2022 01 27 | 35084988 | |
| Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. | Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Undiagnosed Diseases Network; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand | American journal of human genetics | 2022 02 03 | 35051358 | |
| Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling. | Marcogliese, Paul C; Dutta, Debdeep; Ray, Shrestha Sinha; Dang, Nghi D P; Zuo, Zhongyuan; Wang, Yuchun; Lu, Di; Fazal, Fatima; Ravenscroft, Thomas A; Chung, Hyunglok; Kanca, Oguz; Wan, JiJun; Douine, Emilie D; Network, Undiagnosed Diseases; Pena, Loren D M; Yamamoto, Shinya; Nelson, Stanley F; Might, Matthew; Meyer, Kathrin C; Yeo, Nan Cher; Bellen, Hugo J | Science advances | 2022 Jan 21 | 35044823 | |
| An estrogen-sensitive hypothalamus-midbrain neural circuit controls thermogenesis and physical activity. | Ye, Hui; Feng, Bing; Wang, Chunmei; Saito, Kenji; Yang, Yongjie; Ibrahimi, Lucas; Schaul, Sarah; Patel, Nirali; Saenz, Leslie; Luo, Pei; Lai, Penghua; Torres, Valeria; Kota, Maya; Dixit, Devin; Cai, Xing; Qu, Na; Hyseni, Ilirjana; Yu, Kaifan; Jiang, Yuwei; Tong, Qingchun; Sun, Zheng; Arenkiel, Benjamin R; He, Yanlin; Xu, Pingwen; Xu, Yong | Science advances | 2022 Jan 21 | eabk0185 | 35044814 |
| Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study. | Koko, Mahmoud; Motelow, Joshua E; Stanley, Kate E; Bobbili, Dheeraj R; Dhindsa, Ryan S; May, Patrick; Canadian Epilepsy Network; Epi4K Consortium; Epilepsy Phenome/Genome Project; EpiPGX Consortium; EuroEPINOMICS-CoGIE Consortium | Epilepsia | 2022 Jan 15 | 35032048 | |
| Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics. | Halley, Meghan C; Young, Jennifer L; Fernandez, Liliana; Kohler, Jennefer N; Undiagnosed Diseases Network; Bernstein, Jonathan A; Wheeler, Matthew T; Tabor, Holly K | American journal of medical genetics. Part A | 2022 Jan 03 | 34981646 | |
| Patients as Partners in Rare Disease Diagnosis and Research. | McCray, Alexa T; LeBlanc, Kimberly; Undiagnosed Diseases Network | The Yale journal of biology and medicine | 2021 12 | 34970107 | |
| De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. | Manivannan, Sathiya N; Roovers, Jolien; Smal, Noor; Myers, Candace T; Turkdogan, Dilsad; Roelens, Filip; Kanca, Oguz; Chung, Hyung-Lok; Scholz, Tasja; Hermann, Katharina; Bierhals, Tatjana; Caglayan, Hande S; Stamberger, Hannah; MAE Working Group of EuroEPINOMICS RES Consortium ; Mefford, Heather; de Jonghe, Peter; Yamamoto, Shinya; Weckhuysen, Sarah; Bellen, Hugo J | Brain : a journal of neurology | 2022 Jun 03 | 34788397 | |
| A crosslinked dextran sulfate-chitosan nanoparticle for delivery of therapeutic heparin-binding proteins. | Guarino, Victoria A; Blau, Adam; Alvarenga, Jack; Loscalzo, Joseph; Zhang, Ying-Yi | International journal of pharmaceutics | 2021 Dec 15 | 34775044 | |
| Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. | Sharma, Richa; Sahoo, Sushree S; Honda, Masayoshi; Granger, Sophie L; Goodings, Charnise; Sanchez, Louis; Künstner, Axel; Busch, Hauke; Beier, Fabian; Pruett-Miller, Shondra M; Valentine, Marcus B; Fernandez, Alfonso G; Chang, Ti-Cheng; Géli, Vincent; Churikov, Dmitri; Hirschi, Sandrine; Pastor, Victor B; Boerries, Melanie; Lauten, Melchior; Kelaidi, Charikleia; Cooper, Megan A; Nicholas, Sarah; Rosenfeld, Jill A; Polychronopoulou, Sophia; Kannengiesser, Caroline; Saintomé, Carole; Niemeyer, Charlotte M; Revy, Patrick; Wold, Marc S; Spies, Maria; Erlacher, Miriam; Coulon, Stéphane; Wlodarski, Marcin W | Blood | 2022 02 17 | 34767620 | |
| FOXR1 regulates stress response pathways and is necessary for proper brain development. | Mota, Andressa; Waxman, Hannah K; Hong, Rui; Lagani, Gavin D; Niu, Sheng-Yong; Bertherat, Féodora L; Wolfe, Lynne; Malicdan, Christine May; Markello, Thomas C; Adams, David R; Gahl, William A; Cheng, Christine S; Beffert, Uwe; Ho, Angela | PLoS genetics | 2021 11 | 34723967 | |
| De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. | Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A; Bassetti, Jennifer A; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C; Allen, Jake; Emrick, Lisa T; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Undiagnosed Diseases Network; Chabane, Nadia; Zackai, Elaine H; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J; Umair, Muhammad; Li, Dong; Donald, Kirsten A; Superti-Furga, Andrea | Molecular autism | 2021 10 26 | 34702355 | |
| Interferon-γ Impairs Human Coronary Artery Endothelial Glucose Metabolism by Tryptophan Catabolism and Activates Fatty Acid Oxidation. | Lee, Laurel Yong-Hwa; Oldham, William M; He, Huamei; Wang, Ruisheng; Mulhern, Ryan; Handy, Diane E; Loscalzo, Joseph | Circulation | 2021 Nov 16 | 34636650 | |
| Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants. | Gigli, Marta; Stolfo, Davide; Graw, Sharon L; Merlo, Marco; Gregorio, Caterina; Nee Chen, Suet; Dal Ferro, Matteo; PaldinoMD, Alessia; De Angelis, Giulia; Brun, Francesca; Jirikowic, Jean; Salcedo, Ernesto E; Turja, Sylvia; Fatkin, Diane; Johnson, Renee; van Tintelen, J Peter; Te Riele, Anneline S J M; Wilde, Arthur A M; Lakdawala, Neal K; Picard, Kermshlise; Miani, Daniela; Muser, Daniele; Maria Severini, Giovanni; Calkins, Hugh; James, Cynthia A; Murray, Brittney; Tichnell, Crystal; Parikh, Victoria N; Ashley, Euan A; Reuter, Chloe; Song, Jiangping; Judge, Daniel P; McKenna, William J; Taylor, Matthew R G; Sinagra, Gianfranco; Mestroni, Luisa | Circulation | 2021 Nov 16 | 34587765 | |
| Determining effective drug concentrations for selection and counterselection genetics in Drosophila melanogaster. | Matinyan, Nick; Gonzalez, Yezabel; Dierick, Herman A; Venken, Koen J T | STAR protocols | 2021 09 17 | 34585147 | |
| Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. | Mukherjee, Souhrid; Cogan, Joy D; Newman, John H; Phillips 3rd, John A; Hamid, Rizwan; Undiagnosed Diseases Network; Meiler, Jens; Capra, John A | American journal of human genetics | 2021 10 07 | 34529933 | |
| Multiplexed drug-based selection and counterselection genetic manipulations in Drosophila. | Matinyan, Nick; Karkhanis, Mansi S; Gonzalez, Yezabel; Jain, Antrix; Saltzman, Alexander; Malovannaya, Anna; Sarrion-Perdigones, Alejandro; Dierick, Herman A; Venken, Koen J T | Cell reports | 2021 Sep 14 | 34525356 | |
| COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. | Marom, Ronit; Burrage, Lindsay C; Venditti, Rossella; Clément, Aurélie; Blanco-Sánchez, Bernardo; Jain, Mahim; Scott, Daryl A; Rosenfeld, Jill A; Sutton, V Reid; Shinawi, Marwan; Mirzaa, Ghayda; DeVile, Catherine; Roberts, Rowenna; Calder, Alistair D; Allgrove, Jeremy; Grafe, Ingo; Lanza, Denise G; Li, Xiaohui; Joeng, Kyu Sang; Lee, Yi-Chien; Song, I-Wen; Sliepka, Joseph M; Batkovskyte, Dominyka; Washington, Megan; Dawson, Brian C; Jin, Zixue; Jiang, Ming-Ming; Chen, Shan; Chen, Yuqing; Tran, Alyssa A; Emrick, Lisa T; Murdock, David R; Hanchard, Neil A; Zapata, Gladys E; Mehta, Nitesh R; Weis, Mary Ann; Scott, Abbey A; Tremp, Brenna A; Phillips, Jennifer B; Wegner, Jeremy; Taylor-Miller, Tashunka; Gibbs, Richard A; Muzny, Donna M; Jhangiani, Shalini N; Hicks, John; Stottmann, Rolf W; Dickinson, Mary E; Seavitt, John R; Heaney, Jason D; Eyre, David R; Undiagnosed Diseases Network; Westerfield, Monte; De Matteis, Maria Antonietta; Lee, Brendan | American journal of human genetics | 2021 09 02 | 34450031 | |
| Increased Menopausal Age Reduces the Risk of Parkinson's Disease: A Mendelian Randomization Approach. | Kusters, Cynthia D J; Paul, Kimberly C; Duarte Folle, Aline; Keener, Adrienne M; Bronstein, Jeff M; Bertram, Lars; Hansen, Johnni; Horvath, Steve; Sinsheimer, Janet S; Lill, Christina M; Ritz, Beate R | Movement disorders : official journal of the Movement Disorder Society | 2021 10 | 34426982 | |
| Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. | Boulin, Thomas; Itani, Omar; El Mouridi, Sonia; Leclercq-Blondel, Alice; Gendrel, Marie; Macnamara, Ellen; Soldatos, Ariane; Murphy, Jennifer L; Gorman, Mark P; Lindsey, Anika; Shimada, Shino; Turner, Darian; Silverman, Gary A; Baldridge, Dustin; Undiagnosed Diseases Network; Malicdan, May C; Schedl, Tim; Pak, Stephen C | Molecular genetics and metabolism | 2021 Sep-Oct | 34412939 | |
| Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. | Kohler, Jennefer N; Kelley, Emily G; Boyd, Brenna M; Sillari, Catherine H; Marwaha, Shruti; Undiagnosed Diseases Network; Wheeler, Matthew T | Journal of genetic counseling | 2022 04 | 34374469 | |
| TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. | Goodman, Lindsey D; Cope, Heidi; Nil, Zelha; Ravenscroft, Thomas A; Charng, Wu-Lin; Lu, Shenzhao; Tien, An-Chi; Pfundt, Rolph; Koolen, David A; Haaxma, Charlotte A; Veenstra-Knol, Hermine E; Wassink-Ruiter, Jolien S Klein; Wevers, Marijke R; Jones, Melissa; Walsh, Laurence E; Klee, Victoria H; Theunis, Miel; Legius, Eric; Steel, Dora; Barwick, Katy E S; Kurian, Manju A; Mohammad, Shekeeb S; Dale, Russell C; Terhal, Paulien A; van Binsbergen, Ellen; Kirmse, Brian; Robinette, Bethany; Cogné, Benjamin; Isidor, Bertrand; Grebe, Theresa A; Kulch, Peggy; Hainline, Bryan E; Sapp, Katherine; Morava, Eva; Klee, Eric W; Macke, Erica L; Trapane, Pamela; Spencer, Christopher; Si, Yue; Begtrup, Amber; Moulton, Matthew J; Dutta, Debdeep; Kanca, Oguz; Undiagnosed Diseases Network; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Tan, Queenie K-G | American journal of human genetics | 2021 09 02 | 34314705 | |
| Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation. | Beijer, Danique; Kim, Hong Joo; Guo, Lin; O'Donovan, Kevin; Mademan, Inès; Deconinck, Tine; Van Schil, Kristof; Fare, Charlotte M; Drake, Lauren E; Ford, Alice F; Kochański, Andrzej; Kabzińska, Dagmara; Dubuisson, Nicolas; Van den Bergh, Peter; Voermans, Nicol C; Lemmers, Richard Jlf; van der Maarel, Silvère M; Bonner, Devon; Sampson, Jacinda B; Wheeler, Matthew T; Mehrabyan, Anahit; Palmer, Steven; De Jonghe, Peter; Shorter, James; Taylor, J Paul; Baets, Jonathan | JCI insight | 2021 Jul 22 | 34291734 | |
| Opportunities and pitfalls of social media research in rare genetic diseases: a systematic review. | Miller, Emily G; Woodward, Amanda L; Flinchum, Grace; Young, Jennifer L; Tabor, Holly K; Halley, Meghan C | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Dec | 34282302 | |
| Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. | Cousin, Margot A; Creighton, Blake A; Breau, Keith A; Spillmann, Rebecca C; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J; Afriyie, Simone; Bay, Julia C; Harper, Kathryn M; Beltran, Alvaro A; Munoz, Lorena J; Falcon Rodriguez, Liset; Stankewich, Michael C; Person, Richard E; Si, Yue; Normand, Elizabeth A; Blevins, Amy; May, Alison S; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J; Brilstra, Eva; van Gassen, Koen L I; van Jaarsveld, Richard H; Oegema, Renske; Parsons, Gretchen M; Mark, Paul; Helbig, Ingo; McKeown, Sarah E; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A; Wang, Tianyun; Eichler, Evan E; van de Laar, Ingrid M B H; McConkie-Rosell, Allyn; McDonald, Marie T; Kemppainen, Jennifer; Lanpher, Brendan C; Schultz-Rogers, Laura E; Gunderson, Lauren B; Pichurin, Pavel N; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran, Adriana S; Zimmermann, Michael T; Temple, Brenda; Moy, Sheryl S; Klee, Eric W; Tan, Queenie K-G; Lorenzo, Damaris N | Nature genetics | 2021 07 | 34211179 | |
| Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. | Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; Undiagnosed Diseases Network (UDN); McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L | Annals of neurology | 2021 Aug | 34185323 | |
| Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. | Rodan, Lance H; Spillmann, Rebecca C; Kurata, Harley T; Lamothe, Shawn M; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C; Christ, Björn U; Granadillo, Jorge L; Dickson, Patricia; Donald, Kirsten A; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O'Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Undiagnosed Diseases Network; Rush, Eric; Pitt, Geoffrey S; Au, Ping Yee Billie; Shashi, Vandana | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Oct | 34163037 | |
| Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. | McConkie-Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K-G; Palmer, Christina G S; Undiagnosed Disease Network; Hooper, Stephen R; Shashi, Vandana | Journal of genetic counseling | 2021 Jun 11 | 34115423 | |
| Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. | Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Undiagnosed Diseases Network; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine S C; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Oct | 34113007 | |
| "Doctors can read about it, they can know about it, but they've never lived with it": How parents use social media throughout the diagnostic odyssey. | Deuitch, Natalie T; Beckman, Erika; Halley, Meghan C; Young, Jennifer L; Reuter, Chloe M; Kohler, Jennefer; Bernstein, Jonathan A; Wheeler, Matthew T; Undiagnosed Diseases Network; Ormond, Kelly E; Tabor, Holly K | Journal of genetic counseling | 2021 12 | 34096130 | |
| The quagmire of race, genetic ancestry, and health disparities. | Sirugo, Giorgio; Tishkoff, Sarah A; Williams, Scott M | The Journal of clinical investigation | 2021 06 01 | 34060479 | |
| TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. | Bowles, Bradley; Ferrer, Alejandro; Nishimura, Carla J; Pinto E Vairo, Filippo; Rey, Tristan; Leheup, Bruno; Sullivan, Jennifer; Schoch, Kelly; Stong, Nicholas; Agolini, Emanuele; Cocciadiferro, Dario; Williams, Abigail; Cummings, Alex; Loddo, Sara; Genovese, Silvia; Roadhouse, Chelsea; McWalter, Kirsty; Undiagnosed Diseases Network; Wentzensen, Ingrid M; Li, Chumei; Babovic-Vuksanovic, Dusica; Lanpher, Brendan C; Dentici, Maria Lisa; Ankala, Arun; Hamm, J Austin; Dallapiccola, Bruno; Radio, Francesca Clementina; Shashi, Vandana; Gérard, Benedicte; Bloch-Zupan, Agnes; Smith, Richard J; Klee, Eric W | American journal of medical genetics. Part A | 2021 08 | 34042254 | |
| WEScover: selection between clinical whole exome sequencing and gene panel testing. | Lee, In-Hee; Lin, Yufei; Alvarez, William Jefferson; Hernandez-Ferrer, Carles; Mandl, Kenneth D; Kong, Sek Won | BMC bioinformatics | 2021 May 20 | 34016036 | |
| Finding commonalities in rare diseases through the undiagnosed diseases network. | Yates, Josephine; Gutiérrez-Sacristán, Alba; Jouhet, Vianney; LeBlanc, Kimberly; Esteves, Cecilia; Undiagnosed Diseases Network; DeSain, Thomas N; Benik, Nick; Stedman, Jason; Palmer, Nathan; Mellon, Guillaume; Kohane, Isaac; Avillach, Paul | Journal of the American Medical Informatics Association : JAMIA | 2021 07 30 | 34009343 | |
| Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network. | LeBlanc, Kimberly; Kelley, Emily G; Nagy, Anna; Bater, Jorick; Berro, Tala; McGuinness, Molly A; Studwell, Courtney; Undiagnosed Diseases Network; Might, Matthew | Orphanet journal of rare diseases | 2021 05 10 | 33971915 | |
| Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy. | Burke, Elizabeth A; Sturgeon, Morgan; Zastrow, Diane B; Fernandez, Liliana; Prybol, Cameron; Marwaha, Shruti; Frothingham, Edward P; Ward, Patricia A; Eng, Christine M; Fresard, Laure; Montgomery, Stephen B; Enns, Gregory M; Fisher, Paul G; Wolfe, Lynne A; Harding, Brian; Carrington, Blake; Bishop, Kevin; Sood, Raman; Huang, Yan; Elkahloun, Abdel; Toro, Camilo; Bassuk, Alexander G; Wheeler, Matthew T; Markello, Thomas C; Gahl, William A; Malicdan, May Christine V | Journal of neurogenetics | 2021 Mar-Jun | 33970744 | |
| PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. | Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G; Rabin, Rachel; Low, Karen J; Rosenfeld, Jill A; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M; Anderson, Anne; Chau, Vann; Soler-Alfonso, Claudia; Streff, Haley; Lalani, Seema R; Mercimek-Andrews, Saadet; Undiagnosed Diseases Network; DDD Study; Bi, Weimin | Clinical genetics | 2021 08 | 33963760 | |
| Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. | Baldridge, Dustin; Wangler, Michael F; Bowman, Angela N; Yamamoto, Shinya; Undiagnosed Diseases Network; Schedl, Tim; Pak, Stephen C; Postlethwait, John H; Shin, Jimann; Solnica-Krezel, Lilianna; Bellen, Hugo J; Westerfield, Monte | Orphanet journal of rare diseases | 2021 05 07 | 33962631 | |
| Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. | Cope, Heidi; Barseghyan, Hayk; Bhattacharya, Surajit; Fu, Yulong; Hoppman, Nicole; Marcou, Cherisse; Walley, Nicole; Rehder, Catherine; Deak, Kristen; Alkelai, Anna; Undiagnosed Diseases Network; Vilain, Eric; Shashi, Vandana | Molecular genetics & genomic medicine | 2021 Jul | 33955715 | |
| A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. | Keehan, Laura; Jiang, Ming-Ming; Li, Xiaohui; Marom, Ronit; Dai, Hongzheng; Murdock, David; Liu, Pengfei; Hunter, Jill V; Heaney, Jason D; Robak, Laurie; Emrick, Lisa; Lotze, Timothy; Blieden, Lauren S; Undiagnosed Diseases Network; Lewis, Richard Alan; Levin, Alex V; Capasso, Jenina; Craigen, William J; Rosenfeld, Jill A; Lee, Brendan; Burrage, Lindsay C | American journal of medical genetics. Part A | 2021 08 | 33949769 | |
| Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. | Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A; Cope, Heidi; Shashi, Vandana; Undiagnosed Diseases Network; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M; Petit, Florence; Smol, Thomas; Le Guyader, Gwenaël; Bilan, Frédéric; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Campeau, Philippe M; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J; Lyons, Michael J; Dobson, Amy; Plomp, Astrid S; Motazacker, M Mahdi; Kaiser, Frank J; Timberlake, Andrew T; Fuchs, Sabine A; Depienne, Christel; Mignot, Cyril | Human genetics | 2021 Jul | 33944996 | |
| Epigenetic regulation during human cortical development: Seq-ing answers from the brain to the organoid. | Lewis, Emily M A; Kaushik, Komal; Sandoval, Luke A; Antony, Irene; Dietmann, Sabine; Kroll, Kristen L | Neurochemistry international | 2021 07 | 33915225 | |
| Network medicine framework for identifying drug-repurposing opportunities for COVID-19. | Morselli Gysi, Deisy; do Valle, Ítalo; Zitnik, Marinka; Ameli, Asher; Gan, Xiao; Varol, Onur; Ghiassian, Susan Dina; Patten, J J; Davey, Robert A; Loscalzo, Joseph; Barabási, Albert-László | Proceedings of the National Academy of Sciences of the United States of America | 2021 05 11 | 33906951 | |
| Immunometabolic Endothelial Phenotypes: Integrating Inflammation and Glucose Metabolism. | Xiao, Wusheng; Oldham, William M; Priolo, Carmen; Pandey, Arvind K; Loscalzo, Joseph | Circulation research | 2021 Jun 25 | 33890812 | |
| A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. | Kyle, Jennifer E; Stratton, Kelly G; Zink, Erika M; Kim, Young-Mo; Bloodsworth, Kent J; Monroe, Matthew E; Undiagnosed Diseases Network; Waters, Katrina M; Webb-Robertson, Bobbie-Jo M; Koeller, David M; Metz, Thomas O | Scientific data | 2021 04 21 | 33883556 | |
| Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features. | Luo, Xi; Schoch, Kelly; Jangam, Sharayu V; Bhavana, Venkata Hemanjani; Graves, Hillary K; Kansagra, Sujay; Jasien, Joan; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Undiagnosed Diseases Network (UDN); Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya | Human molecular genetics | 2021 Apr 16 | 33864376 | |
| Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders. | Anderson, Nickesha C; Chen, Pin-Fang; Meganathan, Kesavan; Afshar Saber, Wardiya; Petersen, Andrew J; Bhattacharyya, Anita; Kroll, Kristen L; Sahin, Mustafa; Cross-IDDRC Human Stem Cell Working Group | Stem cell reports | 2021 06 08 | 33861989 | |
| COVID-19 and Cardiovascular Disease: From Bench to Bedside. | Chung, Mina K; Zidar, David A; Bristow, Michael R; Cameron, Scott J; Chan, Timothy; Harding 3rd, Clifford V; Kwon, Deborah H; Singh, Tamanna; Tilton, John C; Tsai, Emily J; Tucker, Nathan R; Barnard, John; Loscalzo, Joseph | Circulation research | 2021 04 16 | 33856918 | |
| Mitochondrial NADP+ is essential for proline biosynthesis during cell growth. | Tran, Diem H; Kesavan, Rushendhiran; Rion, Halie; Soflaee, Mona Hoseini; Solmonson, Ashley; Bezwada, Divya; Vu, Hieu S; Cai, Feng; Phillips 3rd, John A; DeBerardinis, Ralph J; Hoxhaj, Gerta | Nature metabolism | 2021 04 | 33833463 | |
| Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. | Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F; Martinez-Agosto, Julian A; Palmer, Christina G S; Signer, Rebecca H; Undiagnosed Diseases Network; Andrews, Marisa V; Grange, Dorothy K; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiß, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Apr 08 | 33833410 | |
| Diverse genetic causes of polymicrogyria with epilepsy. | Epilepsy Phenome/Genome Project, Epi4K Consortium | Epilepsia | 2021 Apr | 33818783 | |
| A Description of Novel Variants and Review of Phenotypic Spectrum in UBA5-related Early Epileptic Encephalopathy. | Briere, Lauren C; Walker, Melissa A; High, Frances A; Rogers, Cassandra A; Callahan, Christine; Cooper, Cynthia; Ishimura, Ryosuke; Ichimura, Yoshinobu; Caruso, Paul A; Sharma, Nutan; Brokamp, Elly; Koziura, Mary E; Mohammad, Shekeeb S; Dale, Russell C; Riley, Lisa G; Network, Undiagnosed Diseases; Phillips, John A; Komatsu, Masaaki; Sweetser, David A | Cold Spring Harbor molecular case studies | 2021 Apr 02 | 33811063 | |
| Drosophila as a Model for Infectious Diseases. | Harnish, J Michael; Link, Nichole; Yamamoto, Shinya | International journal of molecular sciences | 2021 Mar 08 | 33800390 | |
| Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome. | Chen, Yin-Huai; Zastrow, Diane B; Metcalfe, Riley D; Gartner, Lisa; Krause, Freia; Morton, Craig J; Marwaha, Shruti; Fresard, Laure; Huang, Yong; Zhao, Chunli; McCormack, Colleen; Bick, David; Worthey, Elizabeth A; Eng, Christine M; Gold, Jessica; Undiagnosed Diseases Network; Montgomery, Stephen B; Fisher, Paul G; Ashley, Euan A; Wheeler, Matthew T; Parker, Michael W; Shanmugasundaram, Veerabahu; Putoczki, Tracy L; Schmidt-Arras, Dirk; Laurence, Arian; Bernstein, Jonathan A; Griffin, Michael D W; Uhlig, Holm H | The Journal of allergy and clinical immunology | 2021 Mar 23 | 33771552 | |
| The Intersection of Work and Home Challenges Faced by Physician Mothers During the Coronavirus Disease 2019 Pandemic: A Mixed-Methods Analysis. | Halley, Meghan C; Mathews, Kusum S; Diamond, Lisa C; Linos, Elizabeth; Sarkar, Urmimala; Mangurian, Christina; Sabry, Hala; Goyal, Monika K; Olazo, Kristan; Miller, Emily G; Jagsi, Reshma; Linos, Eleni | Journal of women's health (2002) | 2021 04 | 33761277 | |
| A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs. | Yan, Yi-Lin; Titus, Tom; Desvignes, Thomas; BreMiller, Ruth; Batzel, Peter; Sydes, Jason; Farnsworth, Dylan; Dillon, Danielle; Wegner, Jeremy; Phillips, Jennifer B; Peirce, Judy; Dowd, John; Undiagnosed Diseases Network; Buck, Charles Loren; Miller, Adam; Westerfield, Monte; Postlethwait, John H | Genetics | 2021 Feb 09 | 33724412 | |
| Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. | Bonder, Marc Jan; Smail, Craig; Gloudemans, Michael J; Frésard, Laure; Jakubosky, David; D'Antonio, Matteo; Li, Xin; Ferraro, Nicole M; Carcamo-Orive, Ivan; Mirauta, Bogdan; Seaton, Daniel D; Cai, Na; Vakili, Dara; Horta, Danilo; Zhao, Chunli; Zastrow, Diane B; Bonner, Devon E; HipSci Consortium; iPSCORE consortium; Undiagnosed Diseases Network; PhLiPS consortium; Wheeler, Matthew T; Kilpinen, Helena; Knowles, Joshua W; Smith, Erin N; Frazer, Kelly A; Montgomery, Stephen B; Stegle, Oliver | Nature genetics | 2021 03 | 33664507 | |
| Machine Learning of Patient Characteristics to Predict Admission Outcomes in the Undiagnosed Diseases Network. | Amiri, Hadi; Kohane, Isaac S; Undiagnosed Diseases Network | JAMA network open | 2021 02 01 | 33630084 | |
| Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. | Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R; Liu, Pengfei; Wegner, Daniel J; Paul, Alexander J; Undiagnosed Diseases Network; Sunyaev, Shamil R; Kohane, Isaac S | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Feb 12 | 33580225 | |
| Caring for the Caregivers - Covid-19 Vaccination for Essential Members of the Health Care Team. | Halley, Meghan C; Mangurian, Christina | The New England journal of medicine | 2021 Mar 04 | 33577149 | |
| Comprehensive characterization of protein-protein interactions perturbed by disease mutations. | Cheng, Feixiong; Zhao, Junfei; Wang, Yang; Lu, Weiqiang; Liu, Zehui; Zhou, Yadi; Martin, William R; Wang, Ruisheng; Huang, Jin; Hao, Tong; Yue, Hong; Ma, Jing; Hou, Yuan; Castrillon, Jessica A; Fang, Jiansong; Lathia, Justin D; Keri, Ruth A; Lightstone, Felice C; Antman, Elliott Marshall; Rabadan, Raul; Hill, David E; Eng, Charis; Vidal, Marc; Loscalzo, Joseph | Nature genetics | 2021 Feb 08 | 33558758 | |
| Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes. | Maron, Bradley A; Wang, Rui-Sheng; Shevtsov, Sergei; Drakos, Stavros G; Arons, Elena; Wever-Pinzon, Omar; Huggins, Gordon S; Samokhin, Andriy O; Oldham, William M; Aguib, Yasmine; Yacoub, Magdi H; Rowin, Ethan J; Maron, Barry J; Maron, Martin S; Loscalzo, Joseph | Nature communications | 2021 02 08 | 33558530 | |
| NEDD9 Is a Novel and Modifiable Mediator of Platelet-Endothelial Adhesion in the Pulmonary Circulation. | Alba, George A; Samokhin, Andriy O; Wang, Rui-Sheng; Zhang, Ying-Yi; Wertheim, Bradley M; Arons, Elena; Greenfield, Edward A; Lundberg Slingsby, Martina H; Ceglowski, Julia R; Haley, Kathleen J; Bowman, Frederick P; Yu, Yen-Rei; Haney, John C; Eng, George; Mitchell, Richard N; Sheets, Anthony; Vargas, Sara O; Seo, Sachiko; Channick, Richard N; Leary, Peter J; Rajagopal, Sudarshan; Loscalzo, Joseph; Battinelli, Elisabeth M; Maron, Bradley A | American journal of respiratory and critical care medicine | 2021 06 15 | 33523764 | |
| Whole-Transcriptome Profiling of Human Heart Tissues Reveals the Potential Novel Players and Regulatory Networks in Different Cardiomyopathy Subtypes of Heart Failure. | Liu, Chia-Feng; Ni, Ying; Moravec, Christine S; Morley, Michael; Ashley, Euan A; Cappola, Thomas P; Margulies, Kenneth B; Tang, W H Wilson | Circulation. Genomic and precision medicine | 2021 Feb | 33517678 | |
| De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. | Weng, Patricia L; Majmundar, Amar J; Khan, Kamal; Lim, Tze Y; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F; Aggarwal, Vimla S; Bier, Louise E; Heinzen, Erin L; Onuchic-Whitford, Ana C; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M; Klämbt, Verena; Kolb, Amy; Mao, Youying; Moufawad El Achkar, Christelle; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B; Altmüller, Janine; Benz, Marcus R; Yano, Shoji; Mikati, Mohamad A; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Undiagnosed Diseases Network; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S; Martinez-Agosto, Julian A; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; UCLA Clinical Genomics Center; John-Kroegel, Ulrike; Tyndall, Amanda V; Parboosingh, Jillian S; Innes, A Micheil; Bierzynska, Agnieszka; Koziell, Ania B; Muorah, Mordi; Saleem, Moin A; Hoefele, Julia; Riedhammer, Korbinian M; Gharavi, Ali G; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G; O'Donnell-Luria, Anne; Rehm, Heidi L; Mane, Shrikant; D'Agati, Vivette D; Pollak, Martin R; Ghiggeri, Gian Marco; Lifton, Richard P; Goldstein, David B; Davis, Erica E; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone | American journal of human genetics | 2021 02 04 | 33508234 | |
| Expansion of NEUROD2 phenotypes to include developmental delay without seizures. | Mis, Emily K; Sega, Annalisa G; Signer, Rebecca H; Cartwright, Tracy; Ji, Weizhen; Martinez-Agosto, Julian A; Nelson, Stanley F; Palmer, Christina G S; Lee, Hane; Mitzelfelt, Thomas; Konstantino, Monica; Undiagnosed Diseases Network; Jeffries, Lauren; Khokha, Mustafa K; Marco, Elysa; Martin, Martin G; Lakhani, Saquib A | American journal of medical genetics. Part A | 2021 04 | 33438828 | |
| T cell-depleted cultured pediatric thymus tissue as a model for some aspects of human age-related thymus involution. | Hale, Laura P; Cheatham, Lynn; Macintyre, Andrew N; LaFleur, Bonnie; Sanders, Brittany; Troy, Jesse; Kurtzberg, Joanne; Sempowski, Gregory D | GeroScience | 2021 06 | 33420705 | |
| Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. | Rossetti, Linda Z; Bekheirnia, Mir Reza; Lewis, Andrea M; Mefford, Heather C; Golden-Grant, Katie; Tarczy-Hornoch, Kristina; Briere, Lauren C; Sweetser, David A; Walker, Melissa A; Kravets, Elijah; Stevenson, David A; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A; Marcogliese, Paul C; Undiagnosed Diseases Network; Wangler, Michael F | Molecular genetics & genomic medicine | 2021 01 | 33350591 | |
| Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network. | Levy, Kenneth D; Blake, Kathryn; Fletcher-Hoppe, Colette; Franciosi, James; Goto, Daisuke; Hicks, James K; Holmes, Ann M; Kanuri, Sri Harsha; Madden, Ebony B; Musty, Michael D; Orlando, Lori; Pratt, Victoria M; Ramos, Michelle; Wu, Ryanne; Ginsburg, Geoffrey S | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Oct | 33288881 | |
| A review and definition of 'usual care' in genetic counseling trials to standardize use in research. | Biesecker, Barbara B; Lillie, Sarah E; Amendola, Laura M; Donohue, Katherine E; East, Kelly M; Foreman, Ann Katherine M; Gilmore, Marian J; Greve, Veronica; Liangolou, Billie; O'Daniel, Julianne M; Odgis, Jacqueline A; Rego, Shannon; Rolf, Bradley; Scollon, Sarah; Suckiel, Sabrina A; Zepp, Jamilyn; Joseph, Galen | Journal of genetic counseling | 2021 Feb | 33278053 | |
| An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. | Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Undiagnosed Diseases Network; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 Apr | 33239752 | |
| BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. | Barish, Scott; Barakat, Tahsin Stefan; Michel, Brittany C; Mashtalir, Nazar; Phillips, Jennifer B; Valencia, Alfredo M; Ugur, Berrak; Wegner, Jeremy; Scott, Tiana M; Bostwick, Brett; Undiagnosed Diseases Network; Murdock, David R; Dai, Hongzheng; Perenthaler, Elena; Nikoncuk, Anita; van Slegtenhorst, Marjon; Brooks, Alice S; Keren, Boris; Nava, Caroline; Mignot, Cyril; Douglas, Jessica; Rodan, Lance; Nowak, Catherine; Ellard, Sian; Stals, Karen; Lynch, Sally Ann; Faoucher, Marie; Lesca, Gaetan; Edery, Patrick; Engleman, Kendra L; Zhou, Dihong; Thiffault, Isabelle; Herriges, John; Gass, Jennifer; Louie, Raymond J; Stolerman, Elliot; Washington, Camerun; Vetrini, Francesco; Otsubo, Aiko; Pratt, Victoria M; Conboy, Erin; Treat, Kayla; Shannon, Nora; Camacho, Jose; Wakeling, Emma; Yuan, Bo; Chen, Chun-An; Rosenfeld, Jill A; Westerfield, Monte; Wangler, Michael; Yamamoto, Shinya; Kadoch, Cigall; Scott, Daryl A; Bellen, Hugo J | American journal of human genetics | 2020 12 03 | 33232675 | |
| MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-γ Therapy. | Merselis, Leidy C; Jiang, Shirley Y; Nelson, Stanley F; Lee, Hane; Prabaker, Kavitha K; Baker, Jennifer L; Munson, George P; Butte, Manish J | Frontiers in immunology | 2020 | 33224153 | |
| A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. | Polovitskaya, Maya M; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L; Cole, F Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J | American journal of human genetics | 2020 12 03 | 33217309 | |
| A decision aid for additional findings in genomic sequencing: Development and pilot testing. | Freed, Amanda S; Gruß, Inga; McMullen, Carmit K; Leo, Michael C; Kauffman, Tia L; Porter, Kathryn M; Muessig, Kristin R; Eubanks, Donna; Goddard, Katrina A B; Wilfond, Benjamin S; Liles, Elizabeth G | Patient education and counseling | 2020 Nov 06 | 33191058 | |
| Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1. | Bodle, Ethan E; Zhu, Wenmiao; Velez-Bartolomei, Frances; Tesi-Rocha, Ana; Liu, Pengfei; Bernstein, Jonathan A | Pediatric neurology | 2021 01 | 33189025 | |
| Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. | Granadillo, Jorge L; Wegner, Daniel J; Paul, Alexander J; Willing, Marcia; Sisco, Kathleen; Tedder, Matthew L; Sadikovic, Bekim; Wambach, Jennifer A; Baldridge, Dustin; Cole, Francis Sessions; Undiagnosed Diseases Network | American journal of medical genetics. Part A | 2021 02 | 33184947 | |
| KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Deciphering Developmental Disorders Study; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Genomics England Research Consortium; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloé; Lee, Hane; Lesca, Gaetan; François, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; NIHR BioResource; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frédérique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Undiagnosed Diseases Network; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmão, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A | Brain : a journal of neurology. | 2020 Dec 05; | 33150406 | |
| The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. | Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N; Horvath, Rita; Høyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N; Kurth, Ingo; Laing, Nigel G; Lamont, Phillipa J; Wolfgang N, Löscher; Ludolph, Albert; Marques Jr, Wilson; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schöneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schüle, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Züchner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochański, Andrzej; Auer-Grumbach, Michaela | Neurology | 2020 12 15 | 33144514 | |
| Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. | Studwell, Courtney M; Kelley, Emily G; Undiagnosed Diseases Network; Sinsheimer, Janet S; Palmer, Christina G S; LeBlanc, Kimberly | Journal of genetic counseling | 2021 Apr | 33108040 | |
| Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. | Blanco-Sánchez, Bernardo; Clément, Aurélie; Stednitz, Sarah J; Kyle, Jennifer; Peirce, Judy L; McFadden, Marcie; Wegner, Jeremy; Phillips, Jennifer B; Macnamara, Ellen; Huang, Yan; Adams, David R; Toro, Camilo; Gahl, William A; Malicdan, May Christine V; Tifft, Cynthia J; Zink, Erika M; Bloodsworth, Kent J; Stratton, Kelly G; Undiagnosed Diseases Network; Koeller, David M; Metz, Thomas O; Washbourne, Philip; Westerfield, Monte | PLoS genetics | 2020 Oct | 33104717 | |
| Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. | Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B; Hom, Jason; Sampson, Jacinda; Wheeler, Matthew T; Undiagnosed Diseases Network; Cogan, Joy; Bernstein, Jonathan A; Adams, David R; McCray, Alexa T; Shashi, Vandana | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 Oct 23; | 33093671 | |
| Novel NUDT2 variant causes intellectual disability and polyneuropathy. | Diaz, Frank; Khosa, Shaweta; Niyazov, Dmitriy; Lee, Hane; Person, Richard; Morrow, Michelle M; Signer, Rebecca; Dorrani, Naghmeh; Zheng, Allison; Herzog, Matthew; Freundlich, Robert; Undiagnosed Diseases Network; Birath, J Brandon; Cervantes-Manzo, Yurivia; Martinez-Agosto, Julian A; Palmer, Christina; Nelson, Stanley F; Fogel, Brent L; Mishra, Shri K | Annals of clinical and translational neurology. | 2020 11; | 33058507 | |
| Early-pregnancy transcriptome signatures of preeclampsia: from peripheral blood to placenta. | Yadama, Aishwarya P; Maiorino, Enrico; Carey, Vincent J; McElrath, Thomas F; Litonjua, Augusto A; Loscalzo, Joseph; Weiss, Scott T; Mirzakhani, Hooman | Scientific reports. | 2020 10 12; | 33046794 | |
| SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. | Young, Terri L; Whisenhunt, Kristina N; Jin, Jing; LaMartina, Sarah M; Martin, Sean M; Souma, Tomokazu; Limviphuvadh, Vachiranee; Suri, Fatemeh; Souzeau, Emmanuelle; Zhang, Xue; Dan, Yongwook; Anagnos, Evie; Carmona, Susana; Jody, Nicole M; Stangel, Nickie; Higuchi, Emily C; Huang, Samuel J; Siggs, Owen M; Simões, Maria José; Lawson, Brendan M; Martin, Jacob S; Elahi, Elahe; Narooie-Nejad, Mehrnaz; Motlagh, Behzad Fallahi; Quaggin, Susan E; Potter, Heather D; Silva, Eduardo D; Craig, Jamie E; Egas, Conceição; Maroofian, Reza; Maurer-Stroh, Sebastian; Bradfield, Yasmin S; Tompson, Stuart W | Investigative ophthalmology & visual science. | 2020 Oct 01; | 33027505 | |
| Diversity, inclusion and equity in medical genetics: The time is now. | Quintero-Rivera, Fabiola; Hisama, Fuki M | American journal of medical genetics. Part A | 2020 12 | 33010189 | |
| Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. | Murdock, David R; Dai, Hongzheng; Burrage, Lindsay C; Rosenfeld, Jill A; Ketkar, Shamika; Müller, Michaela F; Yépez, Vicente A; Gagneur, Julien; Liu, Pengfei; Chen, Shan; Jain, Mahim; Zapata, Gladys; Bacino, Carlos A; Chao, Hsiao-Tuan; Moretti, Paolo; Craigen, William J; Hanchard, Neil A; Undiagnosed Diseases Network; Lee, Brendan | The Journal of clinical investigation | 2021 Jan 04 | 33001864 | |
| A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. | Ghosh, Shereen G; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C E; Lane Rutledge, S; Goodloe, Dana H; McDonald, Marie T; Shashi, Vandana; Schoch, Kelly; Undiagnosed Diseases Network; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patrícia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y; Zaki, Maha S; Maroofian, Reza; Gleeson, Joseph G | European journal of human genetics : EJHG | 2021 Feb | 32901138 | |
| A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia. | Luo, Yuan; Eran, Alal; Palmer, Nathan; Avillach, Paul; Levy-Moonshine, Ami; Szolovits, Peter; Kohane, Isaac S | Nature medicine. | 2020 Sep; | 32778826 | |
| Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. | Schneeberger, Pauline E; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D; Coci, Emanuele G; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M; Javaher-Haghighi, Poupak; Bedeschi, Maria F; Ajmone, Paola F; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodríguez Alonso, Aroa; Palomares-Bralo, María; Santos-Simarro, Fernando; Meuwissen, Marije E C; Beysen, Diane; Kooy, R Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Undiagnosed Diseases Network ; Gelb, Bruce D; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin | Brain : a journal of neurology. | 2020 Aug 01; | 32761064 | |
| Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network. | Cope, Heidi; Spillmann, Rebecca; Rosenfeld, Jill A; Brokamp, Elly; Signer, Rebecca; Schoch, Kelly; Kelley, Emily G; Sullivan, Jennifer A; Macnamara, Ellen; Lincoln, Sharyn; Golden-Grant, Katie; Undiagnosed Diseases Network; Orengo, James P; Clark, Gary; Burrage, Lindsay C; Posey, Jennifer E; Punetha, Jaya; Robertson, Amy; Cogan, Joy; Phillips 3rd, John A; Martinez-Agosto, Julian; Shashi, Vandana | Molecular genetics & genomic medicine. | 2020 Jul 30; | 32730690 | |
| De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. | Guillen Sacoto, Maria J; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller 2nd, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Undiagnosed Diseases Network; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane | American journal of human genetics. | 2020 08 06; | 32693025 | |
| Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. | Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary-Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi J L; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Serrano Russi, Alvaro H; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG); Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H | Journal of inherited metabolic disease. | 2020 Nov; | 32681751 | |
| Network determinants of cardiovascular calcification and repositioned drug treatments. | Song, Jun-Seop; Wang, Rui-Sheng; Leopold, Jane A; Loscalzo, Joseph | FASEB journal : official publication of the Federation of American Societies for Experimental Biology. | 2020 Aug; | 32638415 | |
| Post-Developmental Roles of Notch Signaling in the Nervous System. | Salazar, Jose L; Yang, Sheng-An; Yamamoto, Shinya | Biomolecules. | 2020 07 01; | 32630239 | |
| The frontiers of sequencing in undiagnosed neurodevelopmental diseases. | Lee, Hane; Nelson, Stanley F | Current opinion in genetics & development. | 2020 Jun 26; | 32599523 | |
| Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. | Johnstone, Devon L; Nguyen, Thi Tuyet Mai; Zambonin, Jessica; Kernohan, Kristin D; St-Denis, Anik; Baratang, Nissan V; Hartley, Taila; Geraghty, Michael T; Richer, Julie; Majewski, Jacek; Bareke, Eric; Guerin, Andrea; Pendziwiat, Manuela; Pena, Loren D M; Braakman, Hilde M H; Gripp, Karen W; Edmondson, Andrew C; He, Miao; Spillmann, Rebecca C; Eklund, Erik A; Bayat, Allan; McMillan, Hugh J; Boycott, Kym M; Campeau, Philippe M | Journal of inherited metabolic disease. | 2020 Nov; | 32588908 | |
| Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes. | Dainis, Alexandra; Zaleta-Rivera, Kathia; Ribeiro, Alexandre; Chang, Andrew Chia Hao; Shang, Ching; Lan, Feng; Burridge, Paul W; Liu, W Robert; Wu, Joseph C; Chang, Alex Chia Yu; Pruitt, Beth L; Wheeler, Matthew; Ashley, Euan | Physiological genomics | 2020 07 01 | 32567507 | |
| Network Medicine Framework for Identifying Drug Repurposing Opportunities for COVID-19. | Gysi, Deisy Morselli; Do Valle, Ítalo; Zitnik, Marinka; Ameli, Asher; Gan, Xiao; Varol, Onur; Sanchez, Helia; Baron, Rebecca Marlene; Ghiassian, Dina; Loscalzo, Joseph; Barabási, Albert-László | ArXiv | 2020 Apr 15 | 32550253 | |
| Simultaneous Examination of Cellular Pathways using Multiplex Hextuple Luciferase Assaying. | Sarrion-Perdigones, Alejandro; Chang, Lyra; Gonzalez, Yezabel; Gallego-Flores, Tatiana; Young, Damian W; Venken, Koen J T | Current protocols in molecular biology. | 2020 06; | 32539239 | |
| Rapid and Efficient Synthetic Assembly of Multiplex Luciferase Reporter Plasmids for the Simultaneous Monitoring of Up to Six Cellular Signaling Pathways. | Sarrion-Perdigones, Alejandro; Gonzalez, Yezabel; Venken, Koen J T | Current protocols in molecular biology. | 2020 06; | 32539183 | |
| Disseminated Coccidioidomycosis Treated with Interferon-? and Dupilumab. | Tsai, Monica; Thauland, Timothy J; Huang, Alden Y; Bun, Chantana; Fitzwater, Sean; Krogstad, Paul; Douine, Emilie D; Nelson, Stanley F; Lee, Hane; Garcia-Lloret, Maria I; Butte, Manish J | The New England journal of medicine. | 2020 06 11; | 32521134 | |
| Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila. | Kim, Jung Hwan; Singh, Monika; Pan, Geng; Lopez, Adrian; Zito, Nicholas; Bosse, Benjamin; Ye, Bing | Disease models & mechanisms. | 2020 Jun 03; | 32461240 | |
| Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis. | Sato, Mitra S; Kyriakopoulos, Marinos; James, Anthony; Marwedel, Susanne; Borsay, Clare; Gutierrez, Armandina Almanza; Blakemore, Alexandra I; Need, Anna C | Psychiatric genetics. | 2020 06; | 32404617 | |
| MDH1-mediated malate-aspartate NADH shuttle maintains the activity levels of fetal liver hematopoietic stem cells. | Gu, Hao; Chen, Chiqi; Hao, Xiaoxin; Su, Ni; Huang, Dan; Zou, Yejun; Lin, Shu-Hai; Chen, Xianjun; Zheng, Denghao; Liu, Ligen; Yu, Zhuo; Xie, Li; Zhang, Yaping; He, Xiaoxiao; Lai, Xiaoyun; Zhang, Xiaocui; Chen, Guo-Qiang; Zhao, Yuzheng; Yang, Yi; Loscalzo, Joseph; Zheng, Junke | Blood. | 2020 Jul 30; | 32396938 | |
| Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. | Cortese, Andrea; Zhu, Yi; Rebelo, Adriana P; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J; Bai, Yunhong; Bis-Brewer, Dana M; Bugiardini, Enrico; Buglo, Elena; Danzi, Matt C; Feely, Shawna M E; Athanasiou-Fragkouli, Alkyoni; Haridy, Nourelhoda A; Inherited Neuropathy Consortium; Isasi, Rosario; Khan, Alaa; Laurà, Matilde; Magri, Stefania; Pipis, Menelaos; Pisciotta, Chiara; Powell, Eric; Rossor, Alexander M; Saveri, Paola; Sowden, Janet E; Tozza, Stefano; Vandrovcova, Jana; Dallman, Julia; Grignani, Elena; Marchioni, Enrico; Scherer, Steven S; Tang, Beisha; Lin, Zhiqiang; Al-Ajmi, Abdullah; Schüle, Rebecca; Synofzik, Matthis; Maisonobe, Thierry; Stojkovic, Tanya; Auer-Grumbach, Michaela; Abdelhamed, Mohamed A; Hamed, Sherifa A; Zhang, Ruxu; Manganelli, Fiore; Santoro, Lucio; Taroni, Franco; Pareyson, Davide; Houlden, Henry; Herrmann, David N; Reilly, Mary M; Shy, Michael E; Zhai, R Grace; Zuchner, Stephan | Nature genetics. | 2020 May; | 32367058 | |
| Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses. | Schoch, Kelly; Tan, Queenie K-G; Stong, Nicholas; Deak, Kristen L; McConkie-Rosell, Allyn; McDonald, Marie T; Undiagnosed Diseases Network; Goldstein, David B; Jiang, Yong-Hui; Shashi, Vandana | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 Jul; | 32366967 | |
| De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. | Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J | Human molecular genetics. | 2020 Jun 03; | 32356556 | |
| De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. | Chung, Hyung-Lok; Mao, Xiao; Wang, Hua; Park, Ye-Jin; Marcogliese, Paul C; Rosenfeld, Jill A; Burrage, Lindsay C; Liu, Pengfei; Murdock, David R; Yamamoto, Shinya; Wangler, Michael F; Undiagnosed Diseases Network; Chao, Hsiao-Tuan; Long, Hongyu; Feng, Li; Bacino, Carlos A; Bellen, Hugo J; Xiao, Bo | American journal of human genetics. | 2020 May 07; | 32330417 | |
| Molecular networks in Network Medicine: Development and applications. | Silverman, Edwin K; Schmidt, Harald H H W; Anastasiadou, Eleni; Altucci, Lucia; Angelini, Marco; Badimon, Lina; Balligand, Jean-Luc; Benincasa, Giuditta; Capasso, Giovambattista; Conte, Federica; Di Costanzo, Antonella; Farina, Lorenzo; Fiscon, Giulia; Gatto, Laurent; Gentili, Michele; Loscalzo, Joseph; Marchese, Cinzia; Napoli, Claudio; Paci, Paola; Petti, Manuela; Quackenbush, John; Tieri, Paolo; Viggiano, Davide; Vilahur, Gemma; Glass, Kimberly; Baumbach, Jan | Wiley interdisciplinary reviews. Systems biology and medicine | 2020 11 | 32307915 | |
| A reference map of the human binary protein interactome. | Luck, Katja; Kim, Dae-Kyum; Lambourne, Luke; Spirohn, Kerstin; Begg, Bridget E; Bian, Wenting; Brignall, Ruth; Cafarelli, Tiziana; Campos-Laborie, Francisco J; Charloteaux, Benoit; Choi, Dongsic; Coté, Atina G; Daley, Meaghan; Deimling, Steven; Desbuleux, Alice; Dricot, Amélie; Gebbia, Marinella; Hardy, Madeleine F; Kishore, Nishka; Knapp, Jennifer J; Kovács, István A; Lemmens, Irma; Mee, Miles W; Mellor, Joseph C; Pollis, Carl; Pons, Carles; Richardson, Aaron D; Schlabach, Sadie; Teeking, Bridget; Yadav, Anupama; Babor, Mariana; Balcha, Dawit; Basha, Omer; Bowman-Colin, Christian; Chin, Suet-Feung; Choi, Soon Gang; Colabella, Claudia; Coppin, Georges; D'Amata, Cassandra; De Ridder, David; De Rouck, Steffi; Duran-Frigola, Miquel; Ennajdaoui, Hanane; Goebels, Florian; Goehring, Liana; Gopal, Anjali; Haddad, Ghazal; Hatchi, Elodie; Helmy, Mohamed; Jacob, Yves; Kassa, Yoseph; Landini, Serena; Li, Roujia; van Lieshout, Natascha; MacWilliams, Andrew; Markey, Dylan; Paulson, Joseph N; Rangarajan, Sudharshan; Rasla, John; Rayhan, Ashyad; Rolland, Thomas; San-Miguel, Adriana; Shen, Yun; Sheykhkarimli, Dayag; Sheynkman, Gloria M; Simonovsky, Eyal; Ta?an, Murat; Tejeda, Alexander; Tropepe, Vincent; Twizere, Jean-Claude; Wang, Yang; Weatheritt, Robert J; Weile, Jochen; Xia, Yu; Yang, Xinping; Yeger-Lotem, Esti; Zhong, Quan; Aloy, Patrick; Bader, Gary D; De Las Rivas, Javier; Gaudet, Suzanne; Hao, Tong; Rak, Janusz; Tavernier, Jan; Hill, David E; Vidal, Marc; Roth, Frederick P; Calderwood, Michael A | Nature. | 2020 04; | 32296183 | |
| Histopathologic assessment of cultured human thymus. | Hale, Laura P; Neff, Jadee; Cheatham, Lynn; Cardona, Diana; Markert, M Louise; Kurtzberg, Joanne | PloS one. | 2020; | 32208448 | |
| Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. | Béziat, Vivien; Tavernier, Simon J; Chen, Yin-Huai; Ma, Cindy S; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A; De Bruyne, Marieke; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Maglorius Renkilaraj, Majistor Raj Luxman; Seeleuthner, Yoann; Migaud, Mélanie; Rosain, Jérémie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A; Dai, Hongzheng; Burrage, Lindsay C; Murdock, David R; Lambrecht, Bart N; Avettand-Fenoel, Véronique; Vogel, Tiphanie P; Undiagnosed Diseases Network; Esther, Charles R; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachée-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noëlle; Gauvain, Clément; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J; Freeman, Alexandra F; Catherinot, Émilie; Fieschi, Claire; Chatila, Talal A; Tangye, Stuart G; Uhlig, Holm H; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne | The Journal of experimental medicine | 2020 06 01 | 32207811 | |
| De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. | Mao, Dongxue; Reuter, Chloe M; Ruzhnikov, Maura R Z; Beck, Anita E; Farrow, Emily G; Emrick, Lisa T; Rosenfeld, Jill A; Mackenzie, Katherine M; Robak, Laurie; Wheeler, Matthew T; Burrage, Lindsay C; Jain, Mahim; Liu, Pengfei; Calame, Daniel; Küry, Sébastien; Sillesen, Martin; Schmitz-Abe, Klaus; Tonduti, Davide; Spaccini, Luigina; Iascone, Maria; Genetti, Casie A; Koenig, Mary K; Graf, Madeline; Tran, Alyssa; Alejandro, Mercedes; Undiagnosed Diseases Network; Lee, Brendan H; Thiffault, Isabelle; Agrawal, Pankaj B; Bernstein, Jonathan A; Bellen, Hugo J; Chao, Hsiao-Tuan | American journal of human genetics. | 2020 04 02; | 32197074 | |
| Illuminating NAD+ Metabolism in Live Cells and In Vivo Using a Genetically Encoded Fluorescent Sensor. | Zou, Yejun; Wang, Aoxue; Huang, Li; Zhu, Xudong; Hu, Qingxun; Zhang, Yinan; Chen, Xianjun; Li, Fengwen; Wang, Qiaohui; Wang, Hu; Liu, Renmei; Zuo, Fangting; Li, Ting; Yao, Jing; Qian, Yajie; Shi, Mei; Yue, Xiao; Chen, Weicai; Zhang, Zhuo; Wang, Congrong; Zhou, Yong; Zhu, Linyong; Ju, Zhenyu; Loscalzo, Joseph; Yang, Yi; Zhao, Yuzheng | Developmental cell. | 2020 Apr 20; | 32197067 | |
| Limitations of exome sequencing in detecting rare and undiagnosed diseases. | Burdick, Kendall J; Cogan, Joy D; Rives, Lynette C; Robertson, Amy K; Koziura, Mary E; Brokamp, Elly; Duncan, Laura; Hannig, Vickie; Pfotenhauer, Jean; Vanzo, Rena; Paul, Michael S; Bican, Anna; Morgan, Thomas; Duis, Jessica; Newman, John H; Hamid, Rizwan; Phillips 3rd, John A; Undiagnosed Diseases Network | American journal of medical genetics. Part A. | 2020 06; | 32190976 | |
| Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. | Chung, Hyung-Lok; Wangler, Michael F; Marcogliese, Paul C; Jo, Juyeon; Ravenscroft, Thomas A; Zuo, Zhongyuan; Duraine, Lita; Sadeghzadeh, Sina; Li-Kroeger, David; Schmidt, Robert E; Pestronk, Alan; Rosenfeld, Jill A; Burrage, Lindsay; Herndon, Mitchell J; Chen, Shan; Members of Undiagnosed Diseases Network; Shillington, Amelle; Vawter-Lee, Marissa; Hopkin, Robert; Rodriguez-Smith, Jackeline; Henrickson, Michael; Lee, Brendan; Moser, Ann B; Jones, Richard O; Watkins, Paul; Yoo, Taekyeong; Mar, Soe; Choi, Murim; Bucelli, Robert C; Yamamoto, Shinya; Lee, Hyun Kyoung; Prada, Carlos E; Chae, Jong-Hee; Vogel, Tiphanie P; Bellen, Hugo J | Neuron. | 2020 May 20; | 32169171 | |
| Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. | Ates, Kristin M; Wang, Tong; Moreland, Trevor; Veeranan-Karmegam, Rajalakshmi; Ma, Manxiu; Jeter, Chelsi; Anand, Priya; Wenzel, Wolfgang; Kim, Hyung-Goo; Wolfe, Lynne A; Stephen, Joshi; Adams, David R; Markello, Thomas; Tifft, Cynthia J; Settlage, Robert; Gahl, William A; Gonsalvez, Graydon B; Malicdan, May Christine; Flanagan-Steet, Heather; Pan, Y Albert | Disease models & mechanisms. | 2020 May 26; | 32152089 | |
| Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. | Baldridge, Dustin; Spillmann, Rebecca C; Wegner, Daniel J; Wambach, Jennifer A; White, Frances V; Sisco, Kathleen; Toler, Tomi L; Dickson, Patricia I; Cole, F Sessions; Shashi, Vandana; Grange, Dorothy K | American journal of medical genetics. Part A. | 2020 05; | 32083401 | |
| Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome. | Lugo, Michael; Wong, Zoë C; Billington Jr, Charles J; Parrish, Phoebe C R; Muldoon, Glennis; Liu, Delong; Pober, Barbara R; Kozel, Beth A | American journal of medical genetics. Part A | 2020 05 | 32077592 | |
| Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models. | Yu, Y Eugene; Xing, Zhuo; Do, Catherine; Pao, Annie; Lee, Eun Joon; Krinsky-McHale, Sharon; Silverman, Wayne; Schupf, Nicole; Tycko, Benjamin | Progress in brain research. | 2020; | 32057305 | |
| A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism. | Omer, Salma; Koumangoye, Rainelli; Delpire, Eric | Journal of cellular physiology. | 2020 Feb 10; | 32039487 | |
| Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. | Woods, Jeremy D; Khanlou, Negar; Lee, Hane; Signer, Rebecca; Shieh, Perry; Chen, Johnathan; Herzog, Matthew; Palmer, Christina; Martinez-Agosto, Julian; Undiagnosed Diseases Network; Nelson, Stanley F | Neuropathology : official journal of the Japanese Society of Neuropathology | 2020 Jun | 32037607 | |
| GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. | Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana P G; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, M J; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D M; Undiagnosed Diseases Network; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny E V; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham Jr, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 May; | 31949314 | |
| Defining the clinical phenotype of Saul-Wilson syndrome. | Ferreira, Carlos R; Zein, Wadih M; Huryn, Laryssa A; Merker, Andrea; Berger, Seth I; Wilson, William G; Tiller, George E; Wolfe, Lynne A; Merideth, Melissa; Carvalho, Daniel R; Duker, Angela L; Bratke, Heiko; Haug, Marte Gjøl; Rohena, Luis; Hove, Hanne B; Xia, Zhi-Jie; Ng, Bobby G; Freeze, Hudson H; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L; Tham, Emma; Nishimura, Gen; Phillips 3rd, John A; Gahl, William A; Hamid, Rizwan; Jackson, Andrew P; Grigelioniene, Giedre; Bober, Michael B | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 May; | 31949312 | |
| Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. | Yamamoto, Shinya | Development, growth & differentiation. | 2020 Jan; | 31943162 | |
| The application of big data to cardiovascular disease: paths to precision medicine. | Leopold, Jane A; Maron, Bradley A; Loscalzo, Joseph | The Journal of clinical investigation | 2020 01 02 | 31895052 | |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. | Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C; van den Berg, Paul; Jacobs, Edwin H; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F J; de Valk, Walter G; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N; Bernstein, Jonathan A; Monaghan, Kristin G; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A; Salih, Mustafa A; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O; Hamad, Muddathir H A; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M; Brooks, Alice S; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J; Barakat, Tahsin Stefan | Acta neuropathologica. | 2020 Mar; | 31820119 | |
| Interpreting an apoptotic corpse as anti-inflammatory involves a chloride sensing pathway. | Perry, Justin S A; Morioka, Sho; Medina, Christopher B; Iker Etchegaray, J; Barron, Brady; Raymond, Michael H; Lucas, Christopher D; Onengut-Gumuscu, Suna; Delpire, Eric; Ravichandran, Kodi S | Nature cell biology. | 2019 12; | 31792382 | |
| The Expanding Role of Genetics in Cerebral Palsy. | Emrick, Lisa T; DiCarlo, Shannon M | Physical medicine and rehabilitation clinics of North America. | 2020 02; | 31760988 | |
| The Genetics of Neuropathic Pain from Model Organisms to Clinical Application. | Calvo, Margarita; Davies, Alexander J; Hébert, Harry L; Weir, Greg A; Chesler, Elissa J; Finnerup, Nanna B; Levitt, Roy C; Smith, Blair H; Neely, G Gregory; Costigan, Michael; Bennett, David L | Neuron. | 2019 Nov 20; | 31751545 | |
| Statistically Driven Metabolite and Lipid Profiling of Patients from the Undiagnosed Diseases Network. | Webb-Robertson, Bobbie-Jo M; Stratton, Kelly G; Kyle, Jennifer E; Kim, Young-Mo; Bramer, Lisa M; Waters, Katrina M; Koeller, David M; Metz, Thomas O | Analytical chemistry. | 2020 01 21; | 31742994 | |
| Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly. | Link, Nichole; Chung, Hyunglok; Jolly, Angad; Withers, Marjorie; Tepe, Burak; Arenkiel, Benjamin R; Shah, Priya S; Krogan, Nevan J; Aydin, Hatip; Geckinli, Bilgen B; Tos, Tulay; Isikay, Sedat; Tuysuz, Beyhan; Mochida, Ganesh H; Thomas, Ajay X; Clark, Robin D; Mirzaa, Ghayda M; Lupski, James R; Bellen, Hugo J | Developmental cell. | 2019 Dec 16; | 31735666 | |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. | Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; Morin, Gilles; Sasanfar, Roksana; Ayub, Muhammad; Vasli, Nasim; Yang, Sandra; Person, Rick; Monaghan, Kristin G; Nickerson, Deborah A; van Binsbergen, Ellen; Enns, Gregory M; Dries, Annika M; Rowe, Leah J; Tsai, Anne C H; Svihovec, Shayna; Friedman, Jennifer; Agha, Zehra; Qamar, Raheel; Rodan, Lance H; Martinez-Agosto, Julian; Ockeloen, Charlotte W; Vincent, Marie; Sunderland, William James; Bernstein, Jonathan A; Undiagnosed Diseases Network,; Eichler, Evan E; Vincent, John B; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad, Michael J | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 Mar; | 31723249 | |
| DNA double-strand breaks: a potential therapeutic target for neurodegenerative diseases. | Thadathil, Nidheesh; Hori, Roderick; Xiao, Jianfeng; Khan, Mohammad Moshahid | Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology | 2019 12 | 31707536 | |
| Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | Gu, Shen; Chen, Chun-An; Rosenfeld, Jill A; Cope, Heidi; Launay, Nathalie; Flanigan, Kevin M; Waldrop, Megan A; Schrader, Rachel; Juusola, Jane; Goker-Alpan, Ozlem; Milunsky, Aubrey; Schlüter, Agatha; Troncoso, Mónica; Pujol, Aurora; Tan, Queenie K-G; Schaaf, Christian P; Meng, Linyan | Human mutation. | 2020 Mar; | 31696996 | |
| The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. | Lee, In-Hee; Negron, Jose A; Hernandez-Ferrer, Carles; Alvarez, William Jefferson; Mandl, Kenneth D; Kong, Sek Won | Human mutation. | 2019 Nov 06; | 31691385 | |
| Systematic Discovery of Endogenous Human Ribonucleoprotein Complexes. | Mallam, Anna L; Sae-Lee, Wisath; Schaub, Jeffrey M; Tu, Fan; Battenhouse, Anna; Jang, Yu Jin; Kim, Jonghwan; Wallingford, John B; Finkelstein, Ilya J; Marcotte, Edward M; Drew, Kevin | Cell reports. | 2019 Oct 29; | 31665645 | |
| Novel Human NKCC1 Mutations Cause Defects in Goblet Cell Mucus Secretion and Chronic Inflammation. | Koumangoye, Rainelli; Omer, Salma; Kabeer, Mustafa H; Delpire, Eric | Cellular and molecular gastroenterology and hepatology. | 2020; | 31655271 | |
| Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. | Guo, Hui; Bettella, Elisa; Marcogliese, Paul C; Zhao, Rongjuan; Andrews, Jonathan C; Nowakowski, Tomasz J; Gillentine, Madelyn A; Hoekzema, Kendra; Wang, Tianyun; Wu, Huidan; Jangam, Sharayu; Liu, Cenying; Ni, Hailun; Willemsen, Marjolein H; van Bon, Bregje W; Rinne, Tuula; Stevens, Servi J C; Kleefstra, Tjitske; Brunner, Han G; Yntema, Helger G; Long, Min; Zhao, Wenjing; Hu, Zhengmao; Colson, Cindy; Richard, Nicolas; Schwartz, Charles E; Romano, Corrado; Castiglia, Lucia; Bottitta, Maria; Dhar, Shweta U; Erwin, Deanna J; Emrick, Lisa; Keren, Boris; Afenjar, Alexandra; Zhu, Baosheng; Bai, Bing; Stankiewicz, Pawel; Herman, Kristin; University of Washington Center for Mendelian Genomics; Mercimek-Andrews, Saadet; Juusola, Jane; Wilfert, Amy B; Abou Jamra, Rami; Büttner, Benjamin; Mefford, Heather C; Muir, Alison M; Scheffer, Ingrid E; Regan, Brigid M; Malone, Stephen; Gecz, Jozef; Cobben, Jan; Weiss, Marjan M; Waisfisz, Quinten; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ruivenkamp, Claudia A L; Sartori, Stefano; Xia, Fan; Rosenfeld, Jill A; Bernier, Raphael A; Wangler, Michael F; Yamamoto, Shinya; Xia, Kun; Stegmann, Alexander P A; Bellen, Hugo J; Murgia, Alessandra; Eichler, Evan E | Nature communications. | 2019 10 15; | 31616000 | |
| VarSight: prioritizing clinically reported variants with binary classification algorithms. | Holt, James M; Wilk, Brandon; Birch, Camille L; Brown, Donna M; Gajapathy, Manavalan; Moss, Alexander C; Sosonkina, Nadiya; Wilk, Melissa A; Anderson, Julie A; Harris, Jeremy M; Kelly, Jacob M; Shaterferdosian, Fariba; Uno-Antonison, Angelina E; Weborg, Arthur; Undiagnosed Diseases Network; Worthey, Elizabeth A | BMC bioinformatics. | 2019 Oct 15; | 31615419 | |
| Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. | Lee, Hane; Huang, Alden Y; Wang, Lee-Kai; Yoon, Amanda J; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D; Woods, Jeremy D; Dell'Angelica, Esteban C; Fogel, Brent L; Martin, Martin G; Butte, Manish J; Parker, Neil H; Wang, Richard T; Shieh, Perry B; Wong, Derek A; Gallant, Natalie; Singh, Kathryn E; Tavyev Asher, Y Jane; Sinsheimer, Janet S; Krakow, Deborah; Loo, Sandra K; Allard, Patrick; Papp, Jeanette C; Undiagnosed Diseases Network; Palmer, Christina G S; Martinez-Agosto, Julian A; Nelson, Stanley F | Genetics in medicine : official journal of the American College of Medical Genetics. | 2020 03; | 31607746 | |
| De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. | Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; Undiagnosed Diseases Network; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F; Rivière, Jean-Baptiste; Lafond-Lapalme, Joël; Simpson, Brittany N; Hopkin, Robert J; Trimouille, Aurélien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H; Severino, Mariasavina; Rouleau, Guy A; Yam, Patricia T; Charron, Frédéric; Srour, Myriam | American journal of human genetics. | 2019 10 03; | 31585109 | |
| Drosophila Heterochromatin Stabilization Requires the Zinc-Finger Protein Small Ovary. | Benner, Leif; Castro, Elias A; Whitworth, Cale; Venken, Koen J T; Yang, Haiwang; Fang, Junnan; Oliver, Brian; Cook, Kevin R; Lerit, Dorothy A | Genetics. | 2019 11; | 31558581 | |
| Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma. | Wang, Rui-Sheng; Croteau-Chonka, Damien C; Silverman, Edwin K; Loscalzo, J; Weiss, Scott T; Hall, Kathryn T | Clinical pharmacology and therapeutics. | 2019 Dec; | 31557306 | |
| Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. | Wang, Julia; Mao, Dongxue; Fazal, Fatima; Kim, Seon-Young; Yamamoto, Shinya; Bellen, Hugo; Liu, Zhandong | Current protocols in bioinformatics. | 2019 Sep; | 31524990 | |
| Drug-Placebo Additivity in Randomized Clinical Trials. | Hall, Kathryn T; Loscalzo, Joseph | Clinical pharmacology and therapeutics. | 2019 12; | 31502253 | |
| In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. | Harnish, J Michael; Deal, Samantha L; Chao, Hsiao-Tuan; Wangler, Michael F; Yamamoto, Shinya | Journal of visualized experiments : JoVE. | 2019 08 20; | 31498321 | |
| Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. | Reuter, Chloe M; Kohler, Jennefer N; Bonner, Devon; Zastrow, Diane; Fernandez, Liliana; Dries, Annika; Marwaha, Shruti; Davidson, Jean; Brokamp, Elly; Herzog, Matthew; Hong, Joyce; Macnamara, Ellen; Rosenfeld, Jill A; Schoch, Kelly; Spillmann, Rebecca; Undiagnosed Diseases Network; Loscalzo, Joseph; Krier, Joel; Stoler, Joan; Sweetser, David; Palmer, Christina G S; Phillips, John A; Shashi, Vandana; Adams, David A; Yang, Yaping; Ashley, Euan A; Fisher, Paul G; Mulvihill, John J; Bernstein, Jonathan A; Wheeler, Matthew T | Journal of genetic counseling. | 2019 Dec; | 31478310 | |
| Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information. | Wang, Julia; Liu, Zhandong; Bellen, Hugo J; Yamamoto, Shinya | Journal of visualized experiments : JoVE. | 2019 08 15; | 31475990 | |
| The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. | McConkie-Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Cope, Heidi; Spillmann, Rebecca; Palmer, Christina G S; Pena, Loren; Jiang, Yong-Hui; Daniels, Nicole; Walley, Nicole; Tan, Khoon G; Undiagnosed Diseases Network; Hooper, Stephen R; Shashi, Vandana | Clinical genetics. | 2019 Dec; | 31448412 | |
| Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor ? Signaling. | Johnson, Brett V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Grønborg, Sabine; Mercier, Sandra; Küry, Sébastien; Bézieau, Stéphane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; Billette de Villemeur, Thierry; Keren, Boris; Désir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A; VanHasselt, Peter M; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; López-Otín, Carlos; Santiago-Fernández, Olaya; Fernández-Jaén, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Undiagnosed Diseases Network; Schoch, Kelly; Sullivan, Jennifer A; Pinto E Vairo, Filippo; Pichurin, Pavel N; Ewing, Sarah A; Barnett, Sarah S; Klee, Eric W; Perry, M Scott; Koenig, Mary Kay; Keegan, Catherine E; Schuette, Jane L; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D; Rosenfeld, Jill A; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E; Steeves, Marcie A; Hollander, Nicolette den; Hoffer, Mariëtte J V; Reijnders, Margot R F; Demirdas, Serwet; Koboldt, Daniel C; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E; Shieh, Christine; Sanchez-Lara, Pedro A; Graham Jr, John M; Tezcan, Kamer; Schaefer, G B; Danylchuk, Noelle R; Asamoah, Alexander; Jackson, Kelly E; Yachelevich, Naomi; Au, Margaret; Pérez-Jurado, Luis A; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gécz, Jozef; Jolly, Lachlan A | Biological psychiatry. | 2020 Jan 15; | 31443933 | |
| Genomics in medicine: a novel elective rotation for internal medicine residents. | Geng, Linda N; Kohler, Jennefer N; Levonian, Peter; Members of the Undiagnosed Diseases Network; Bernstein, Jonathan A; Ford, James M; Ahuja, Neera; Witteles, Ronald; Hom, Jason; Wheeler, Matthew | Postgraduate medical journal | 2019 Oct | 31439813 | |
| Closing the 'phenotype gap' in precision medicine: improving what we measure to understand complex disease mechanisms. | MacRae, Calum A | Mammalian genome : official journal of the International Mammalian Genome Society. | 2019 Aug; | 31428846 | |
| Fine-Tuning of PGC1? Expression Regulates Cardiac Function and Longevity. | Zhu, Xudong; Shen, Weiyan; Yao, Ke; Wang, Hu; Liu, Bo; Li, Tangliang; Song, Lijuan; Diao, Daojun; Mao, Genxiang; Huang, Ping; Li, Chengtao; Zhang, Hongbo; Zou, Yejun; Qiu, Yugang; Zhao, Yuzheng; Wang, Wengong; Yang, Yi; Hu, Zeping; Auwerx, Johan; Loscalzo, Joseph; Zhou, Yong; Ju, Zhenyu | Circulation research. | 2019 Sep 13; | 31412728 | |
| Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. | Niu, Xin; Amendola, Laura M; Hart, Ragan; Bennette, Caroline S; Heagerty, Patrick; Horike-Pyne, Martha; Trinidad, Susan B; Rosenthal, Elisabeth A; Comstock, Bryan; Nefcy, Chris; Hisama, Fuki M; Bennett, Robin L; Grady, William M; Gallego, Carlos J; Tarczy-Hornoch, Peter; Fullerton, Stephanie M; Burke, Wylie; Regier, Dean A; Dorschner, Michael O; Shirts, Brian H; Robertson, Peggy D; Nickerson, Deborah A; Patrick, Donald L; Jarvik, Gail P; Veenstra, David L | Contemporary clinical trials. | 2019 Sep; | 31400517 | |
| De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. | Kanca, Oguz; Andrews, Jonathan C; Lee, Pei-Tseng; Patel, Chirag; Braddock, Stephen R; Slavotinek, Anne M; Cohen, Julie S; Gubbels, Cynthia S; Aldinger, Kimberly A; Williams, Judy; Indaram, Maanasa; Fatemi, Ali; Yu, Timothy W; Agrawal, Pankaj B; Vezina, Gilbert; Simons, Cas; Crawford, Joanna; Lau, C Christopher; Undiagnosed Diseases Network; Chung, Wendy K; Markello, Thomas C; Dobyns, William B; Adams, David R; Gahl, William A; Wangler, Michael F; Yamamoto, Shinya; Bellen, Hugo J; Malicdan, May Christine V | American journal of human genetics. | 2019 Aug 01; | 31327508 | |
| Insurance coverage does not predict outcomes of genetic testing: The search for meaning in payer decisions for germline cancer tests. | Amendola, Laura M; Hart, M Ragan; Bennett, Robin L; Horike-Pyne, Martha; Dorschner, Michael; Shirts, Brian; Jarvik, Gail P | Journal of genetic counseling. | 2019 Dec; | 31317629 | |
| The Undiagnosed Diseases Network as a Tool for Graduate Medical Education. | Aday, Aaron W; Krier, Joel B; Pallais, J Carl; Fieg, Elizabeth L; MacRae, Calum A; Loscalzo, Joseph; Members of the UDN | The American journal of medicine. | 2020 02; | 31301294 | |
| Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. | Bhatia, Aashim; Mobley, Bret C; Cogan, Joy; Koziura, Mary E; Brokamp, Elly; Phillips, John; Newman, John; Undiagnosed Diseases Network (UDN); Moore, Steven A; Hamid, Rizwan; Members of the Undiagnosed Diseases Network | Clinical imaging. | 2019 Nov - Dec; | 31299614 | |
| Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia. | Fernandez, Hubert H; Stamler, David; Davis, Mat D; Factor, Stewart A; Hauser, Robert A; Jimenez-Shahed, Joohi; Ondo, William G; Jarskog, L Fredrik; Woods, Scott W; Bega, Danny; LeDoux, Mark S; Shprecher, David R; Anderson, Karen E | Journal of neurology, neurosurgery, and psychiatry. | 2019 Dec; | 31296586 | |
| Using the Delphi method to identify clinicians' perceived importance of pediatric exome sequencing results. | Stevens Smith, Hadley; Russell, Heidi V; Lee, Brendan H; Morain, Stephanie R; and the Value of Exome Sequencing Delphi Panel | Genetics in medicine : official journal of the American College of Medical Genetics. | 2019 Jul 05; | 31273346 | |
| Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. | Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Undiagnosed Diseases Network; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T; Choi, Murim; Kontrogianni-Konstantopoulos, Aikaterini | Human mutation. | 2019 Aug; | 31264822 | |
| The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. | Bellen, Hugo J; Wangler, Michael F; Yamamoto, Shinya | Human molecular genetics. | 2019 11 21; | 31227826 | |
| Unweaving the role of nuclear Lamins in neural circuit integrity. | Deal, Samantha L; Yamamoto, Shinya | Cell stress. | 2018 Sep 10; | 31223139 | |
| Metabolic Responses to Reductive Stress. | Xiao, Wusheng; Loscalzo, Joseph | Antioxidants & redox signaling. | 2020 Jun; | 31218894 | |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. | Frésard, Laure; Smail, Craig; Ferraro, Nicole M; Teran, Nicole A; Li, Xin; Smith, Kevin S; Bonner, Devon; Kernohan, Kristin D; Marwaha, Shruti; Zappala, Zachary; Balliu, Brunilda; Davis, Joe R; Liu, Boxiang; Prybol, Cameron J; Kohler, Jennefer N; Zastrow, Diane B; Reuter, Chloe M; Fisk, Dianna G; Grove, Megan E; Davidson, Jean M; Hartley, Taila; Joshi, Ruchi; Strober, Benjamin J; Utiramerur, Sowmithri; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind, Lars; Ingelsson, Erik; Battle, Alexis; Bejerano, Gill; Bernstein, Jonathan A; Ashley, Euan A; Boycott, Kym M; Merker, Jason D; Wheeler, Matthew T; Montgomery, Stephen B | Nature medicine. | 2019 Jun; | 31160820 | |
| Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3. | Dainis, Alexandra; Tseng, Elizabeth; Clark, Tyson A; Hon, Ting; Wheeler, Matthew; Ashley, Euan | Circulation. Genomic and precision medicine. | 2019 05; | 31112421 | |
| Gnal haploinsufficiency causes genomic instability and increased sensitivity to haloperidol. | Khan, Mohammad Moshahid; Xiao, Jianfeng; Hollingsworth, T J; Patel, Damini; Selley, Dana E; Ring, Trevor L; LeDoux, Mark S | Experimental neurology | 2019 08 | 31034808 | |
| Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms. | Cassini, Thomas A; Duncan, Laura; Rives, Lynette C; Newman, John H; Phillips, John A; Koziura, Mary E; Brault, Jennifer; Hamid, Rizwan; Cogan, Joy; Undiagnosed Diseases Network | Molecular genetics & genomic medicine. | 2019 Jun; | 31020813 | |
| Network Medicine in Pathobiology. | Lee, Laurel Yong-Hwa; Loscalzo, Joseph | The American journal of pathology. | 2019 07; | 31014954 | |
| Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy: JACC Review Topic of the Week. | Maron, Barry J; Maron, Martin S; Maron, Bradley A; Loscalzo, Joseph | Journal of the American College of Cardiology. | 2019 Apr 23; | 31000001 | |
| IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells. | Newman, John H; Shaver, Aaron; Sheehan, Jonathan H; Mallal, Simon; Stone, John H; Pillai, Shiv; Bastarache, Lisa; Riebau, Derek; Allard-Chamard, Hugues; Stone, William M; Perugino, Cory; Pilkinton, Mark; Smith, Scott A; McDonnell, Wyatt J; Capra, John A; Meiler, Jens; Cogan, Joy; Xing, Kelly; Mahajan, Vinay S; Mattoo, Hamid; Hamid, Rizwan; Phillips 3rd, John A; Undiagnosed Disease Network | Molecular genetics & genomic medicine. | 2019 Apr 16; | 30993913 | |
| A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. | Zastrow, Diane B; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe M; Fernandez, Liliana; Grove, Megan E; Fisk, Dianna G; Undiagnosed Diseases Network; Yang, Yaping; Eng, Christine M; Ward, Patricia A; Bick, David; Worthey, Elizabeth A; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler 3rd, Matthew T | Journal of genetic counseling. | 2019 Apr; | 30964584 | |
| A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. | Gelfman, Sahar; Dugger, Sarah; de Araujo Martins Moreno, Cristiane; Ren, Zhong; Wolock, Charles J; Shneider, Neil A; Phatnani, Hemali; Cirulli, Elizabeth T; Lasseigne, Brittany N; Harris, Tim; Maniatis, Tom; Rouleau, Guy A; Brown Jr, Robert H; Gitler, Aaron D; Myers, Richard M; Petrovski, Slavé; Allen, Andrew; Goldstein, David B; Harms, Matthew B | Genome research. | 2019 05; | 30940688 | |
| Precision Medicine. | Loscalzo, Joseph | Circulation research. | 2019 Mar 29; | 30920923 | |
| Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. | Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura R Z; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Undiagnosed Diseases Network; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A | American journal of medical genetics. Part A. | 2019 Jun; | 30920161 | |
| CemOrange2 fusions facilitate multifluorophore subcellular imaging in C. elegans. | Thomas, Brian J; Wight, Ira E; Chou, Wendy Y Y; Moreno, Marco; Dawson, Zachary; Homayouni, Arielle; Huang, Huiyan; Kim, Hyori; Jia, Hanna; Buland, Justin R; Wambach, Jennifer A; Cole, F Sessions; Pak, Stephen C; Silverman, Gary A; Luke, Cliff J | PloS one. | 2019; | 30913273 | |
| Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network. | Silverman, Edwin K; Allard, Patrick; Loscalzo, Joseph; Mulvihill, John J; Korrick, Susan A; Undiagnosed Diseases Network | American journal of medical genetics. Part A. | 2019 Jun; | 30903737 | |
| A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis. | Hom, Jason; Marwaha, Shruti; Postolova, Anna; Kittle, Jessie; Vasquez, Rosaline; Davidson, Jean; Kohler, Jennefer; Dries, Annika; Fernandez-Betancourt, Liliana; Majcherska, Marta; Dearlove, Joanna; Raghavan, Shyam; Vogel, Hannes; Bernstein, Jonathan A; Fisher, Paul; Ashley, Euan; Sampson, Jacinda; Wheeler, Matthew; Undiagnosed Diseases Network | Journal of general internal medicine. | 2019 Mar 18; | 30887439 | |
| A dileucine motif in the COOH-terminal domain of NKCC1 targets the cotransporter to the plasma membrane. | Koumangoye, Rainelli; Omer, Salma; Delpire, Eric | American journal of physiology. Cell physiology. | 2019 Apr 01; | 30865516 | |
| Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly. | Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Undiagnosed Diseases Network (UDN); Passemard, Sandrine; Drunat, Séverine; Verloes, Alain; Horn, Anselm H C; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita | Genetics in medicine : official journal of the American College of Medical Genetics. | 2019 Sep; | 30842647 | |
| Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. | Gonorazky, Hernan D; Naumenko, Sergey; Ramani, Arun K; Nelakuditi, Viswateja; Mashouri, Pouria; Wang, Peiqui; Kao, Dennis; Ohri, Krish; Viththiyapaskaran, Senthuri; Tarnopolsky, Mark A; Mathews, Katherine D; Moore, Steven A; Osorio, Andres N; Villanova, David; Kemaladewi, Dwi U; Cohn, Ronald D; Brudno, Michael; Dowling, James J | American journal of human genetics. | 2019 Mar 07; | 30827497 | |
| Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. | Hwang, Kyu-Baek; Lee, In-Hee; Li, Honglan; Won, Dhong-Geon; Hernandez-Ferrer, Carles; Negron, Jose Alberto; Kong, Sek Won | Scientific reports. | 2019 Mar 01; | 30824715 | |
| SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. | Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C Y; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina G S; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Guillen Sacoto, Maria J; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H | Human mutation. | 2019 Feb 28; | 30817854 | |
| Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. | Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola, Débora; Yamamoto, Guilherme L; Baratela, Wagner A R; Butler, Merlin G; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H; Krakow, Deborah; Jackson, Andrew P; Lees, Melissa; Offiah, Amaka C; Carlston, Colleen M; Carey, John C; Stewart, Grant S; Bacino, Carlos A; Campeau, Philippe M; Lee, Brendan | American journal of human genetics. | 2019 Mar 07; | 30773277 | |
| Risk-factors Associated with Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review. | Lekbua, Asama; Ouahed, Jodie; O'Connell, Amy E; Kahn, Stacy A; Goldsmith, Jeffrey D; Imamura, Toshihiko; Duncan, Christine N; Kelsen, Judith R; Worthey, Elizabeth; Snapper, Scott B; Softic, Samir | Journal of pediatric gastroenterology and nutrition. | 2019 Feb 07; | 30747812 | |
| Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. | Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Undiagnosed Diseases Network; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J | Human mutation. | 2019 May; | 30740830 | |
| Epigenetic Inheritance Underlying Pulmonary Arterial Hypertension. | Napoli, Claudio; Benincasa, Giuditta; Loscalzo, Joseph | Arteriosclerosis, thrombosis, and vascular biology. | 2019 Apr; | 30727752 | |
| Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students. | Grove, Megan E; White, Shana; Fisk, Dianna G; Rego, Shannon; Dagan-Rosenfeld, Orit; Kohler, Jennefer N; Reuter, Chloe M; Bonner, Devon; Undiagnosed Diseases Network; Wheeler, Matthew T; Bernstein, Jonathan A; Ormond, Kelly E; Hanson-Kahn, Andrea K | Journal of genetic counseling. | 2019 Apr; | 30706981 | |
| Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. | Deal, Samantha L; Yamamoto, Shinya | Frontiers in genetics. | 2018; | 30693015 | |
| Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. | Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Pérez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C; High, Frances A; Sweetser, David A; Undiagnosed Diseases Network; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E; Yang, Edward; Waugh, Jeff L; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna | Epilepsia. | 2019 Mar; | 30682224 | |
| Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. | Macnamara, Ellen F; Schoch, Kelly; Kelley, Emily G; Fieg, Elizabeth; Brokamp, Elly; Undiagnosed Diseases Network; Signer, Rebecca; LeBlanc, Kimberly; McConkie-Rosell, Allyn; Palmer, Christina G S | Journal of genetic counseling. | 2019 Jan 24; | 30680851 | |
| Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. | Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P | Genetics in medicine : official journal of the American College of Medical Genetics. | 2019 08; | 30679821 | |
| Analysis of mutations in primary and metastatic synovial sarcoma. | Xing, Zhuo; Wei, Lei; Jiang, Xiaoling; Conroy, Jeffrey; Glenn, Sean; Bshara, Wiam; Yu, Tao; Pao, Annie; Tanaka, Shinya; Kawai, Akira; Choi, Christopher; Wang, Jianmin; Liu, Song; Morrison, Carl; Yu, Y Eugene | Oncotarget. | 2018 Dec 07; | 30627328 | |
| Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss. | Li, Chong; Bademci, Guney; Subasioglu, Asli; Diaz-Horta, Oscar; Zhu, Yi; Liu, Jiaqi; Mitchell, Timothy Gavin; Abad, Clemer; Seyhan, Serhat; Duman, Duygu; Cengiz, Filiz Basak; Tokgoz-Yilmaz, Suna; Blanton, Susan H; Farooq, Amjad; Walz, Katherina; Zhai, R Grace; Tekin, Mustafa | Proceedings of the National Academy of Sciences of the United States of America. | 2019 Jan 22; | 30610177 | |
| Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. | Machol, Keren; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Nguyen, Thi Tuyet Mai; Spillmann, Rebecca C; Sullivan, Jennifer A; Shashi, Vandana; Jiang, Yong-Hui; Stong, Nicholas; Fiala, Elise; Willing, Marcia; Pfundt, Rolph; Kleefstra, Tjitske; Cho, Megan T; McLaughlin, Heather; Rosello Piera, Monica; Orellana, Carmen; Martínez, Francisco; Caro-Llopis, Alfonso; Monfort, Sandra; Roscioli, Tony; Nixon, Cheng Yee; Buckley, Michael F; Turner, Anne; Jones, Wendy D; van Hasselt, Peter M; Hofstede, Floris C; van Gassen, Koen L I; Brooks, Alice S; van Slegtenhorst, Marjon A; Lachlan, Katherine; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Sonal, Desai; Sakkubai, Naidu; Thevenon, Julien; Faivre, Laurence; Maurel, Alice; Petrovski, Slavé; Krantz, Ian D; Tarpinian, Jennifer M; Rosenfeld, Jill A; Lee, Brendan H; Undiagnosed Diseases Network; Campeau, Philippe M | American journal of human genetics. | 2019 01 03; | 30580808 | |
| Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. | Handoko, Maureen; Emrick, Lisa T; Rosenfeld, Jill A; Wang, Xia; Tran, Alyssa A; Turner, Alicia; Belmont, John W; Undiagnosed Diseases Network; Lee, Brendan H; Bacino, Carlos A; Chao, Hsiao-Tuan | American journal of medical genetics. Part A | 2019 03 | 30569621 | |
| Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. | Emrick, Lisa T; Rosenfeld, Jill A; Lalani, Seema R; Jain, Mahim; Desai, Nilesh K; Larson, Austin; Kripps, Kimberly; Vanderver, Adeline; Taft, Ryan J; Bluske, Krista; Perry, Denise; Nagakura, Honey; Immken, LaDonna L; Burrage, Lindsay C; Bacino, Carlos A; Belmont, John W; Network, Undiagnosed Diseases; Lee, Brendan | Genetics in medicine : official journal of the American College of Medical Genetics. | 2018 Dec 20; | 30568308 | |
| A liquid-like organelle at the root of motile ciliopathy. | Huizar, Ryan L; Lee, Chanjae; Boulgakov, Alexander A; Horani, Amjad; Tu, Fan; Marcotte, Edward M; Brody, Steven L; Wallingford, John B | eLife. | 2018 12 18; | 30561330 | |
| Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis. | Shah, Priya S; Link, Nichole; Jang, Gwendolyn M; Sharp, Phillip P; Zhu, Tongtong; Swaney, Danielle L; Johnson, Jeffrey R; Von Dollen, John; Ramage, Holly R; Satkamp, Laura; Newton, Billy; Hüttenhain, Ruth; Petit, Marine J; Baum, Tierney; Everitt, Amanda; Laufman, Orly; Tassetto, Michel; Shales, Michael; Stevenson, Erica; Iglesias, Gabriel N; Shokat, Leila; Tripathi, Shashank; Balasubramaniam, Vinod; Webb, Laurence G; Aguirre, Sebastian; Willsey, A Jeremy; Garcia-Sastre, Adolfo; Pollard, Katherine S; Cherry, Sara; Gamarnik, Andrea V; Marazzi, Ivan; Taunton, Jack; Fernandez-Sesma, Ana; Bellen, Hugo J; Andino, Raul; Krogan, Nevan J | Cell. | 2018 Dec 13; | 30550790 | |
| Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. | Stephen, Joshi; Maddirevula, Sateesh; Nampoothiri, Sheela; Burke, John D; Herzog, Matthew; Shukla, Anju; Steindl, Katharina; Eskin, Ascia; Patil, Siddaramappa J; Joset, Pascal; Lee, Hane; Garrett, Lisa J; Yokoyama, Tadafumi; Balanda, Nicholas; Bodine, Steven P; Tolman, Nathanial J; Zerfas, Patricia M; Zheng, Allison; Ramantani, Georgia; Girisha, Katta M; Rivas, Cecilia; Suresh, Pujar V; Elkahloun, Abdel; Alsaif, Hessa S; Wakil, Salma M; Mahmoud, Laila; Ali, Rehab; Prochazkova, Michaela; Undiagnosed Diseases Network members; Kulkarni, Ashok B; Ben-Omran, Tawfeg; Colak, Dilek; Morris, H Douglas; Rauch, Anita; Martinez-Agosto, Julian A; Nelson, Stanley F; Alkuraya, Fowzan S; Gahl, William A; Malicdan, May Christine V | American journal of human genetics. | 2018 Dec 06; | 30526868 | |
| ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis. | Deisseroth, Cole A; Birgmeier, Johannes; Bodle, Ethan E; Kohler, Jennefer N; Matalon, Dena R; Nazarenko, Yelena; Genetti, Casie A; Brownstein, Catherine A; Schmitz-Abe, Klaus; Schoch, Kelly; Cope, Heidi; Signer, Rebecca; Undiagnosed Diseases Network; Martinez-Agosto, Julian A; Shashi, Vandana; Beggs, Alan H; Wheeler, Matthew T; Bernstein, Jonathan A; Bejerano, Gill | Genetics in medicine : official journal of the American College of Medical Genetics. | 2018 Dec 05; | 30514889 | |
| Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. | Ng, Bobby G; Rosenfeld, Jill A; Emrick, Lisa; Jain, Mahim; Burrage, Lindsay C; Lee, Brendan; Undiagnosed Diseases Network; Craigen, William J; Bearden, David R; Graham, Brett H; Freeze, Hudson H | American journal of human genetics. | 2018 Dec 06; | 30503518 | |
| Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. | Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius O B; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley J F; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan; Zhang, Xingmin A; Gómez-Andrés, David; Lochmüller, Hanns; Dollfus, Hélène; Rosenzweig, Sergio; Marwaha, Shruti; Rath, Ana; Sullivan, Kathleen; Smith, Cynthia; Milner, Joshua D; Leroux, Dorothée; Boerkoel, Cornelius F; Klion, Amy; Carter, Melody C; Groza, Tudor; Smedley, Damian; Haendel, Melissa A; Mungall, Chris; Robinson, Peter N | Nucleic acids research. | 2019 Jan 08; | 30476213 | |
| Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. | Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; Mohassel, Payam; Foley, A Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G; Wentzensen, Ingrid M; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S; Goldstein, David B; Undiagnosed Diseases Network; Schoser, Benedikt; Rösler, Kai M; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M; Kamsteeg, Erik-Jan; Bönnemann, Carsten G; Gleeson, Joseph G; Martini, Rudolf; Janke, Carsten; Senderek, Jan | The EMBO journal. | 2018 Dec 03; | 30420557 | |
| Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. | Han C, O’Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. | Am J Med Genet A. | 2018 Oct 4 | 30369044 | |
| Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. | Wang, Xia; Posey, Jennifer E; Rosenfeld, Jill A; Bacino, Carlos A; Scaglia, Fernando; Immken, LaDonna; Harris, Jill M; Hickey, Scott E; Mosher, Theresa M; Slavotinek, Anne; Zhang, Jing; Beuten, Joke; Leduc, Magalie S; He, Weimin; Vetrini, Francesco; Walkiewicz, Magdalena A; Bi, Weimin; Xiao, Rui; Liu, Pengfei; Shao, Yunru; Gezdirici, Alper; Gulec, Elif Y; Jiang, Yunyun; Darilek, Sandra A; Hansen, Adam W; Khayat, Michael M; Pehlivan, Davut; Piard, Juliette; Muzny, Donna M; Hanchard, Neil; Belmont, John W; Van Maldergem, Lionel; Gibbs, Richard A; Eldomery, Mohammad K; Akdemir, Zeynep C; Adesina, Adekunle M; Chen, Shan; Lee, Yi-Chien; Undiagnosed Diseases Network; Lee, Brendan; Lupski, James R; Eng, Christine M; Xia, Fan; Yang, Yaping; Graham, Brett H; Moretti, Paolo | Annals of clinical and translational neurology. | 2018 Oct; | 30349862 | |
| Predictors of alcohol responsiveness in dystonia. | Junker, Johanna; Brandt, Valerie; Berman, Brian D; Vidailhet, Marie; Roze, Emmanuel; Weissbach, Anne; Comella, Cynthia; Malaty, Irene A; Jankovic, Joseph; LeDoux, Mark S; Berardelli, Alfredo; Barbano, Richard; Reich, Stephen G; Perlmutter, Joel S; Jinnah, H A; Brüggemann, Norbert | Neurology | 2018 11 20 | 30341158 | |
| Inflammation, Immunity, and Infection in Atherothrombosis: JACC Review Topic of the Week. | Libby, Peter; Loscalzo, Joseph; Ridker, Paul M; Farkouh, Michael E; Hsue, Priscilla Y; Fuster, Valentin; Hasan, Ahmed A; Amar, Salomon | Journal of the American College of Cardiology. | 2018 Oct 23; | 30336831 | |
| A highly parallel strategy for storage of digital information in living cells. | Akhmetov, Azat; Ellington, Andrew D; Marcotte, Edward M | BMC biotechnology. | 2018 10 17; | 30333005 | |
| Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. | Splinter, Kimberly; Adams, David R; Bacino, Carlos A; Bellen, Hugo J; Bernstein, Jonathan A; Cheatle-Jarvela, Alys M; Eng, Christine M; Esteves, Cecilia; Gahl, William A; Hamid, Rizwan; Jacob, Howard J; Kikani, Bijal; Koeller, David M; Kohane, Isaac S; Lee, Brendan H; Loscalzo, Joseph; Luo, Xi; McCray, Alexa T; Metz, Thomas O; Mulvihill, John J; Nelson, Stanley F; Palmer, Christina G S; Phillips 3rd, John A; Pick, Leslie; Postlethwait, John H; Reuter, Chloe; Shashi, Vandana; Sweetser, David A; Tifft, Cynthia J; Walley, Nicole M; Wangler, Michael F; Westerfield, Monte; Wheeler, Matthew T; Wise, Anastasia L; Worthey, Elizabeth A; Yamamoto, Shinya; Ashley, Euan A; Undiagnosed Diseases Network | The New England journal of medicine. | 2018 11 29; | 30304647 | |
| Very early-onset inflammatory bowel disease: an integrated approach. | Sullivan, Kathleen E; Conrad, Maire; Kelsen, Judith R | Current opinion in allergy and clinical immunology. | 2018 12; | 30299395 | |
| A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. | Ferreira, Carlos R; Xia, Zhi-Jie; Clément, Aurélie; Parry, David A; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T; Blanco-Sánchez, Bernardo; Ng, Bobby G; Logan, Clare V; Wolfe, Lynne A; Solomon, Benjamin D; Cho, Megan T; Douglas, Ga | American journal of human genetics. | 2018 Oct 04; | 30290151 | |
| Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Hart, M Ragan; Biesecker, Barbara B; Blout, Carrie L; Christensen, Kurt D; Amendola, Laura M; Bergstrom, Katie L; Biswas, Sawona; Bowling, Kevin M; Brothers, Kyle B; Conlin, Laura K; Cooper, Greg M; Dulik, Matthew C; East, Kelly M; Everett, Jessica N; Finnila, Candice R; Ghazani, Arezou A; Gilmore, Marian J; Goddard, Katrina A B; Jarvik, Gail P; Johnston, Jennifer J; Kauffman, Tia L; Kelley, Whitley V; Krier, Joel B; Lewis, Katie L; McGuire, Amy L; McMullen, Carmit; Ou, Jeffrey; Plon, Sharon E; Rehm, Heidi L; Richards, C Sue; Romasko, Edward J; Miren Sagardia, Ane; Spinner, Nancy B; Thompson, Michelle L; Turbitt, Erin; Vassy, Jason L; Wilfond, Benjamin S; Veenstra, David L; Berg, Jonathan S; Green, Robert C; Biesecker, Leslie G; Hindorff, Lucia A | Genetics in medicine : official journal of the American College of Medical Genetics. | 2019 05; | 30287922 | |
| Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals. | Clément, Aurélie; Blanco-Sánchez, Bernardo; Peirce, Judy L; Westerfield, Monte | Mechanisms of development. | 2018 Oct 01; | 30287385 | |
| Next-generation sequencing to diagnose suspected genetic disorders. | Adams DR, Eng CM. | N Engl J Med | 2018 Oct 4 | 30281996 | |
| Analysis of redox landscapes and dynamics in living cells and in vivo using genetically encoded fluorescent sensors. | Zou, Yejun; Wang, Aoxue; Shi, Mei; Chen, Xianjun; Liu, Renmei; Li, Ting; Zhang, Chenxia; Zhang, Zhuo; Zhu, Linyong; Ju, Zhenyu; Loscalzo, Joseph; Yang, Yi; Zhao, Yuzheng | Nature protocols. | 2018 10; | 30258175 | |
| Water Homeostasis and Cell Volume Maintenance and Regulation. | Delpire, Eric; Gagnon, Kenneth B | Current topics in membranes. | 2018; | 30243436 | |
| GAPDH inhibits intracellular pathways during starvation for cellular energy homeostasis. | Yang, Jia-Shu; Hsu, Jia-Wei; Park, Seung-Yeol; Li, Jian; Oldham, William M; Beznoussenko, Galina V; Mironov, Alexander A; Loscalzo, Joseph; Hsu, Victor W | Nature. | ; | 30209366 | |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham Jr, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M | American journal of human genetics. | 2018 Sep 06; | 30193138 | |
| novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data. | Mohanty, Anwoy Kumar; Vuzman, Dana; Francioli, Laurent; Cassa, Christopher; Brigham Genomic Medicine; Undiagnosed Diseases Network; Brigham and Women?s Hospital FaceBase Project; Toth-Petroczy, Agnes; Sunyaev, Shamil | Bioinformatics (Oxford, England). | 2019 Apr 01; | 30169785 | |
| Characteristics of undiagnosed diseases network applicants: implications for referring providers. | Walley, Nicole M; Pena, Loren D M; Hooper, Stephen R; Cope, Heidi; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Sanders, Camilla; Schoch, Kelly; Spillmann, Rebecca C; Strong, Kimberly; McCray, Alexa T; Mazur, Paul; Esteves, Cecilia; LeBlanc, Kimberly; Undiagnosed Diseases Network; Wise, Anastasia L; Shashi, Vandana | BMC health services research. | 2018 Aug 22; | 30134969 | |
| An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery. | Haghighi, Alireza; Krier, Joel B; Toth-Petroczy, Agnes; Cassa, Christopher A; Frank, Natasha Y; Carmichael, Nikkola; Fieg, Elizabeth; Bjonnes, Andrew; Mohanty, Anwoy; Briere, Lauren C; Lincoln, Sharyn; Lucia, Stephanie; Gupta, Vandana A; Söylemez, Onuralp; Sutti, Sheila; Kooshesh, Kameron; Qiu, Haiyan; Fay, Christopher J; Perroni, Victoria; Valerius, Jamie; Hanna, Meredith; Frank, Alexander; Ouahed, Jodie; Snapper, Scott B; Pantazi, Angeliki; Chopra, Sameer S; Leshchiner, Ignaty; Stitziel, Nathan O; Feldweg, Anna; Mannstadt, Michael; Loscalzo, Joseph; Sweetser, David A; Liao, Eric; Stoler, Joan M; Nowak, Catherine B; Sanchez-Lara, Pedro A; Klein, Ophir D; Perry, Hazel; Patsopoulos, Nikolaos A; Raychaudhuri, Soumya; Goessling, Wolfram; Green, Robert C; Seidman, Christine E; MacRae, Calum A; Sunyaev, Shamil R; Maas, Richard L; Vuzman, Dana; Undiagnosed Diseases Network, Brigham and Women?s Hospital FaceBase Project, Brigham Genomic Medicine (BGM) | NPJ genomic medicine. | 2018; | 30131872 | |
| Quantitative Cell Biology of Neurodegeneration in Drosophila Through Unbiased Analysis of Fluorescently Tagged Proteins Using ImageJ. | Brazill, Jennifer M; Zhu, Yi; Li, Chong; Zhai, R Grace | Journal of visualized experiments : JoVE. | 2018 08 03; | 30124668 | |
| Consequences of Cre-mediated deletion of Ciz1 exon 5 in mice. | Xiao, Jianfeng; Khan, Mohammad Moshahid; Vemula, Satya; Tian, Jun; LeDoux, Mark S | FEBS letters. | 2018 Sep; | 30098009 | |
| Cardiovascular Precision Medicine in the Genomics Era. | Dainis, Alexandra M; Ashley, Euan A | JACC. Basic to translational science. | 2018 Apr; | 30062216 | |
| IRF2BPL Is Associated with Neurological Phenotypes. | Marcogliese, Paul C; Shashi, Vandana; Spillmann, Rebecca C; Stong, Nicholas; Rosenfeld, Jill A; Koenig, Mary Kay; Martínez-Agosto, Julián A; Herzog, Matthew; Chen, Agnes H; Dickson, Patricia I; Lin, Henry J; Vera, Moin U; Salamon, Noriko; Graham Jr, John M; Ortiz, Damara; Infante, Elena; Steyaert, Wouter; Dermaut, Bart; Poppe, Bruce; Chung, Hyung-Lok; Zuo, Zhongyuan; Lee, Pei-Tseng; Kanca, Oguz; Xia, Fan; Yang, Yaping; Smith, Edward C; Jasien, Joan; Kansagra, Sujay; Spiridigliozzi, Gail; El-Dairi, Mays; Lark, Robert; Riley, Kacie; Koeberl, Dwight D; Golden-Grant, Katie; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto, Shinya; Wangler, Michael F; Mirzaa, Ghayda; Hemelsoet, Dimitri; Lee, Brendan; Nelson, Stanley F; Goldstein, David B; Bellen, Hugo J; Pena, Loren D M | American journal of human genetics. | 2018 Aug 02; | 30057031 | |
| 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. | Rodan, Lance H; Qi, Wanshu; Ducker, Gregory S; Demirbas, Didem; Laine, Regina; Yang, Edward; Walker, Melissa A; Eichler, Florian; Rabinowitz, Joshua D; Anselm, Irina; Berry, Gerard T; Undiagnosed Diseases Network (UDN) | Molecular genetics and metabolism. | 2018 09; | 30031689 | |
| Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. | Salazar, Jose L; Yamamoto, Shinya | Advances in experimental medicine and biology. | 2018; | 30030826 | |
| Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease. | Raghavan, Neha S; Brickman, Adam M; Andrews, Howard; Manly, Jennifer J; Schupf, Nicole; Lantigua, Rafael; Wolock, Charles J; Kamalakaran, Sitharthan; Petrovski, Slave; Tosto, Giuseppe; Vardarajan, Badri N; Goldstein, David B; Mayeux, Richard; Alzheimer's Disease Sequencing Project | Annals of clinical and translational neurology. | 2018 Jul; | 30009200 | |
| Network-based approach to prediction and population-based validation of in silico drug repurposing. | Cheng, Feixiong; Desai, Rishi J; Handy, Diane E; Wang, Ruisheng; Schneeweiss, Sebastian; Barabási, Albert-László; Loscalzo, Joseph | Nature communications. | 2018 Jul 12; | 30002366 | |
| Classification of Single Particles from Human Cell Extract Reveals Distinct Structures. | Verbeke, Eric J; Mallam, Anna L; Drew, Kevin; Marcotte, Edward M; Taylor, David W | Cell reports. | 2018 07 03; | 29972786 | |
| Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. | Tan, Queenie K-G; Cope, Heidi; Spillmann, Rebecca C; Stong, Nicholas; Jiang, Yong-Hui; McDonald, Marie T; Rothman, Jennifer A; Butler, Megan W; Frush, Donald P; Lachman, Ralph S; Lee, Brendan; Bacino, Carlos A; Bonner, Melanie J; McCall, Chad M; Pendse, Avani A; Walley, Nicole; Undiagnosed Diseases Network; Shashi, Vandana; Pena, Loren D M | Cold Spring Harbor molecular case studies. | 2018 10; | 29970384 | |
| De novo missense variants in TRAF7 cause developmental delay, congenital anomalies, and dysmorphic features. | Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X. | Am J Hum Genet | 2018 Jul 5 | 29961569 | |
| A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. | Shashi, Vandana; Schoch, Kelly; Spillmann, Rebecca; Cope, Heidi; Tan, Queenie K-G; Walley, Nicole; Pena, Loren; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Stong, Nicholas; Need, Anna C; Goldstein, David B; Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics. | ; | 29907797 | |
| Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F | Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C. | Neurol Genet. | 2018 Jun 8 | 29892709 | |
| Childhood Arthritis and Rheumatology Research Alliance consensus treatment plans for juvenile idiopathic arthritis-associated and idiopathic chronic anterior uveitis. | Angeles-Han, Sheila T; Lo, Mindy S; Henderson, Lauren A; Lerman, Melissa A; Abramson, Leslie; Cooper, Ashley M; Parsa, Miriam F; Zemel, Lawrence S; Ronis, Tova; Beukelman, Timothy; Cox, Erika; Sen, H Nida; Holland, Gary N; Brunner, Hermine I; Lasky, Andrew; Rabinovich, C Egla; Juvenile Idiopathic Arthritis Disease-Specific Uveitis Subcommittee of Childhood Arthritis Rheumatology Research Alliance. | Arthritis care & research. | 2018 May 28; | 29806733 | |
| Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. | Poli, M Cecilia; Ebstein, Frédéric; Nicholas, Sarah K; de Guzman, Marietta M; Forbes, Lisa R; Chinn, Ivan K; Mace, Emily M; Vogel, Tiphanie P; Carisey, Alexandre F; Benavides, Felipe; Coban-Akdemir, Zeynep H; Gibbs, Richard A; Jhangiani, Shalini N; Muzny, Donna M; Carvalho, Claudia M B; Schady, Deborah A; Jain, Mahim; Rosenfeld, Jill A; Emrick, Lisa; Lewis, Richard A; Lee, Brendan; Undiagnosed Diseases Network members; Zieba, Barbara A; Küry, Sébastien; Krüger, Elke; Lupski, James R; Bostwick, Bret L; Orange, Jordan S | American journal of human genetics. | 2018 Jun 07; | 29805043 | |
| Network-Based Disease Module Discovery by a Novel Seed Connector Algorithm with Pathobiological Implications. | Wang, Rui-Sheng; Loscalzo, Joseph | Journal of molecular biology. | 2018 May 20; | 29791871 | |
| Whole-exome sequencing for variant discovery in blepharospasm. | Tian, Jun; Vemula, Satya R; Xiao, Jianfeng; Valente, Enza Maria; Defazio, Giovanni; Petrucci, Simona; Gigante, Angelo Fabio; Rudzi?ska-Bar, Monika; Wszolek, Zbigniew K; Kennelly, Kathleen D; Uitti, Ryan J; van Gerpen, Jay A; Hedera, Peter; Trimble, Elizabeth J; LeDoux, Mark S | Molecular genetics & genomic medicine. | ; | 29770609 | |
| Single-step Precision Genome Editing in Yeast Using CRISPR-Cas9. | Akhmetov, Azat; Laurent, Jon M; Gollihar, Jimmy; Gardner, Elizabeth C; Garge, Riddhiman K; Ellington, Andrew D; Kachroo, Aashiq H; Marcotte, Edward M | Bio-protocol. | ; | 29770349 | |
| Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. | Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. | BMC Med Genet | 2018 May 16 | 29769041 | |
| MicroRNA Dysregulation in Pulmonary Arteries from Chronic Obstructive Pulmonary Disease. Relationships with Vascular Remodeling. | Musri, Melina M; Coll-Bonfill, Núria; Maron, Bradley A; Peinado, Víctor I; Wang, Rui-Sheng; Altirriba, Jordi; Blanco, Isabel; Oldham, William M; Tura-Ceide, Olga; García-Lucio, Jessica; de la Cruz-Thea, Benjamin; Meister, Gunter; Loscalzo, Joseph; Barberà, Joan A | American journal of respiratory cell and molecular biology. | 2018 Oct; | 29757677 | |
| De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. | Heinzen, Erin L; O'Neill, Adam C; Zhu, Xiaolin; Allen, Andrew S; Bahlo, Melanie; Chelly, Jamel; Chen, Ming Hui; Dobyns, William B; Freytag, Saskia; Guerrini, Renzo; Leventer, Richard J; Poduri, Annapurna; Robertson, Stephen P; Walsh, Christopher A; Zhang, Mengqi; Epi4K Consortium; Epilepsy Phenome/Genome Project | PLoS genetics. | 2018 05; | 29738522 | |
| Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. | Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David; Amaral, Michelle D; Worthey, Elizabeth A; Levy, Shawn; Undiagnosed Diseases Network (UDN); Wangler, Michael F; Bellen, Hugo J; Shashi, Vandana; Yamamoto, Shinya | Human molecular genetics. | 2018 Jul 15; | 29726930 | |
| Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells. | Koumangoye, Rainelli; Omer, Salma; Delpire, Eric | American journal of physiology. Cell physiology. | 2018 08 01; | 29719172 | |
| High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy. | Fuller, Tyson D; Westfall, Trudi A; Das, Tirthasree; Dawson, Deborah V; Slusarski, Diane C | Journal of neurogenetics. | 2018 Mar - Jun; | 29718741 | |
| Emerging Role of Precision Medicine in Cardiovascular Disease. | Leopold, Jane A; Loscalzo, Joseph | Circulation research. | 2018 Apr 27; | 29700074 | |
| Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy. | Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. | Human Genet | 2018 Apr | 29691655 | |
| Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. | DeBoever, Christopher; Tanigawa, Yosuke; Lindholm, Malene E; McInnes, Greg; Lavertu, Adam; Ingelsson, Erik; Chang, Chris; Ashley, Euan A; Bustamante, Carlos D; Daly, Mark J; Rivas, Manuel A | Nature communications. | 2018 Apr 24; | 29691392 | |
| Na+ -K+ -2Cl- Cotransporter (NKCC) Physiological Function in Nonpolarized Cells and Transporting Epithelia. | Delpire, Eric; Gagnon, Kenneth B | Comprehensive Physiology. | 2018 03 25; | 29687903 | |
| Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. | Winawer, Melodie R; Griffin, Nicole G; Samanamud, Jorge; Baugh, Evan H; Rathakrishnan, Dinesh; Ramalingam, Senthilmurugan; Zagzag, David; Schevon, Catherine A; Dugan, Patricia; Hegde, Manu; Sheth, Sameer A; McKhann, Guy M; Doyle, Werner K; Grant, Gerald A; Porter, Brenda E; Mikati, Mohamad A; Muh, Carrie R; Malone, Colin D; Bergin, Ann Marie R; Peters, Jurriaan M; McBrian, Danielle K; Pack, Alison M; Akman, Cigdem I; LaCoursiere, Christopher M; Keever, Katherine M; Madsen, Joseph R; Yang, Edward; Lidov, Hart G W; Shain, Catherine; Allen, Andrew S; Canoll, Peter D; Crino, Peter B; Poduri, Annapurna H; Heinzen, Erin L | Annals of neurology. | 2018 Jun; | 29679388 | |
| MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease. | Rips, Jonathan; Meyer-Schuman, Rebecca; Breuer, Oded; Tsabari, Reuven; Shaag, Avraham; Revel-Vilk, Shoshana; Reif, Shimon; Elpeleg, Orly; Antonellis, Anthony; Harel, Tamar | European journal of medical genetics. | 2018 Apr 12; | 29655802 | |
| Plain-language medical vocabulary for precision diagnosis. | Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA. | Nat Genet | 2018 Apr | 29632381 | |
| Cardiovascular disease: The rise of the genetic risk score. | Knowles, Joshua W; Ashley, Euan A | PLoS medicine. | 2018 03; | 29601582 | |
| Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. | Bastarache, Lisa; Hughey, Jacob J; Hebbring, Scott; Marlo, Joy; Zhao, Wanke; Ho, Wanting T; Van Driest, Sara L; McGregor, Tracy L; Mosley, Jonathan D; Wells, Quinn S; Temple, Michael; Ramirez, Andrea H; Carroll, Robert; Osterman, Travis; Edwards, Todd; Ruderfer, Douglas; Velez Edwards, Digna R; Hamid, Rizwan; Cogan, Joy; Glazer, Andrew; Wei, Wei-Qi; Feng, QiPing; Brilliant, Murray; Zhao, Zhizhuang J; Cox, Nancy J; Roden, Dan M; Denny, Joshua C | Science (New York, N.Y.). | 2018 03 16; | 29590070 | |
| Oculogyric crises in PLA2G6 associated neurodegeneration. | Rohani M, Shahidi G, Vali F, Lang AE, Slow E, Gahl WA, Behnam B. | Parkinsonism Related Disorders | 2018 Jul | 29574084 | |
| A gene-specific T2A-GAL4 library for Drosophila. | Lee, Pei-Tseng; Zirin, Jonathan; Kanca, Oguz; Lin, Wen-Wen; Schulze, Karen L; Li-Kroeger, David; Tao, Rong; Devereaux, Colby; Hu, Yanhui; Chung, Verena; Fang, Ying; He, Yuchun; Pan, Hongling; Ge, Ming; Zuo, Zhongyuan; Housden, Benjamin E; Mohr, Stephanie E; Yamamoto, Shinya; Levis, Robert W; Spradling, Allan C; Perrimon, Norbert; Bellen, Hugo J | eLife. | 2018 03 22; | 29565247 | |
| Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. | Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. | Mol Genet Metab | 2018 May 16 | 29550355 | |
| Efficient Computational Modeling of Human Ventricular Activation and Its Electrocardiographic Representation: A Sensitivity Study. | Cranford, Jonathan P; O'Hara, Thomas J; Villongco, Christopher T; Hafez, Omar M; Blake, Robert C; Loscalzo, Joseph; Fattebert, Jean-Luc; Richards, David F; Zhang, Xiaohua; Glosli, James N; McCulloch, Andrew D; Krummen, David E; Lightstone, Felice C; Wong, Sergio E | Cardiovascular engineering and technology. | 2018 Sep; | 29549620 | |
| Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. | Palmer, Christina G S; McConkie-Rosell, Allyn; Holm, Ingrid A; LeBlanc, Kimberly; Sinsheimer, Janet S; Briere, Lauren C; Dorrani, Naghmeh; Herzog, Matthew R; Lincoln, Sharyn; Schoch, Kelly; Spillmann, Rebecca C; Brokamp, Elly; Undiagnosed Diseases Network | Journal of genetic counseling. | 2018 Sep; | 29497923 | |
| Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. | Oláhová, Monika; Yoon, Wan Hee; Thompson, Kyle; Jangam, Sharayu; Fernandez, Liliana; Davidson, Jean M; Kyle, Jennifer E; Grove, Megan E; Fisk, Dianna G; Kohler, Jennefer N; Holmes, Matthew; Dries, Annika M; Huang, Yong; Zhao, Chunli; Contrepois, Kévin; Zappala, Zachary; Frésard, Laure; Waggott, Daryl; Zink, Erika M; Kim, Young-Mo; Heyman, Heino M; Stratton, Kelly G; Webb-Robertson, Bobbie-Jo M; Undiagnosed Diseases Network; Snyder, Michael; Merker, Jason D; Montgomery, Stephen B; Fisher, Paul G; Feichtinger, René G; Mayr, Johannes A; Hall, Julie; Barbosa, Ines A; Simpson, Michael A; Deshpande, Charu; Waters, Katrina M; Koeller, David M; Metz, Thomas O; Morris, Andrew A; Schelley, Susan; Cowan, Tina; Friederich, Marisa W; McFarland, Robert; Van Hove, Johan L K; Enns, Gregory M; Yamamoto, Shinya; Ashley, Euan A; Wangler, Michael F; Taylor, Robert W; Bellen, Hugo J; Bernstein, Jonathan A; Wheeler, Matthew T | American journal of human genetics. | 2018 Mar 01; | 29478781 | |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. | Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A; Pagnamenta, Alistair T; Alswaid, Abdulrahman; Baker, Eva H; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David B; van Gassen, Koen L; Gulsuner, Suleyman; Harr, Margaret H; Jain, Mahim; Kuechler, Alma; Leppig, Kathleen A; McDonald-McGinn, Donna M; Can, Ngoc Thi Bich; Peleg, Amir; Roeder, Elizabeth R; Rogers, R Curtis; Sagi-Dain, Lena; Sapp, Julie C; Schäffer, Alejandro A; Schanze, Denny; Stewart, Helen; Taylor, Jenny C; Verbeek, Nienke E; Walkiewicz, Magdalena A; Zackai, Elaine H; Zweier, Christiane; Members of the Undiagnosed Diseases Network; Zenker, Martin; Lee, Brendan; Biesecker, Leslie G | Genetics in medicine : official journal of the American College of Medical Genetics. | 2018 10; | 29469822 | |
| Network Analysis to Risk Stratify Patients With Exercise Intolerance. | Oldham, William M; Oliveira, Rudolf K F; Wang, Rui-Sheng; Opotowsky, Alexander R; Rubins, David M; Hainer, Jon; Wertheim, Bradley M; Alba, George A; Choudhary, Gaurav; Tornyos, Adrienn; MacRae, Calum A; Loscalzo, Joseph; Leopold, Jane A; Waxman, Aaron B; Olschewski, Horst; Kovacs, Gabor; Systrom, David M; Maron, Bradley A | Circulation research. | 2018 Mar 16; | 29437835 | |
| Triplications of human chromosome 21 orthologous regions in mice result in expansion of megakaryocyte-erythroid progenitors and reduction of granulocyte-macrophage progenitors. | Liu, Chunhong; Yu, Tao; Xing, Zhuo; Jiang, Xiaoling; Li, Yichen; Pao, Annie; Mu, Justin; Wallace, Paul K; Stoica, George; Bakin, Andrei V; Yu, Y Eugene | Oncotarget. | 2018 Jan 12; | 29435140 | |
| Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. | Pomerantz, Daniel J; Ferdinandusse, Sacha; Cogan, Joy; Cooper, David N; Reimschisel, Tyler; Robertson, Amy; Bican, Anna; McGregor, Tracy; Gauthier, Jackie; Millington, David S; Andrae, Jaime L W; Tschannen, Michael R; Helbling, Daniel C; Demos, Wendy M; Denis, Simone; Wanders, Ronald J A; Newman, John N; Hamid, Rizwan; Phillips 3rd, John A; Collaborators of UDN | American journal of medical genetics. Part A. | 2018 Mar; | 29388319 | |
| Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia. | Sivley, R Michael; Sheehan, Jonathan H; Kropski, Jonathan A; Cogan, Joy; Blackwell, Timothy S; Phillips, John A; Bush, William S; Meiler, Jens; Capra, John A | BMC bioinformatics. | 2018 Jan 23; | 29361909 | |
| Phenotypic heterogeneity of ZMPSTE24 deficiency. | Cassini, Thomas A; Robertson, Amy K; Bican, Anna G; Cogan, Joy D; Hannig, Vickie L; Newman, John H; Hamid, Rizwan; Phillips 3rd, John A; Undiagnosed Diseases Network | American journal of medical genetics. Part A. | 2018 Jan 17; | 29341437 | |
| A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. | Reuter, Chloe M; Brimble, Elise; DeFilippo, Colette; Dries, Annika M; Undiagnosed Diseases Network; Enns, Gregory M; Ashley, Euan A; Bernstein, Jonathan A; Fisher, Paul Graham; Wheeler, Matthew T | The Journal of pediatrics. | 2018 Jan 11; | 29331327 | |
| Genotype-phenotype correlations in individuals with pathogenic RERE variants. | Jordan, Valerie K; Fregeau, Brieana; Ge, Xiaoyan; Giordano, Jessica; Wapner, Ronald J; Balci, Tugce B; Carter, Melissa T; Bernat, John A; Moccia, Amanda N; Srivastava, Anshika; Martin, Donna M; Bielas, Stephanie L; Pappas, John; Svoboda, Melissa D; Rio, Marlène; Boddaert, Nathalie; Cantagrel, Vincent; Lewis, Andrea M; Scaglia, Fernando; Undiagnosed Diseases Network; Kohler, Jennefer N; Bernstein, Jonathan A; Dries, Annika M; Rosenfeld, Jill A; DeFilippo, Colette; Thorson, Willa; Yang, Yaping; Sherr, Elliott H; Bi, Weimin; Scott, Daryl A | Human mutation. | 2018 05; | 29330883 | |
| Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. | Larson, Austin A; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C; Marom, Ronit; Graham, Brett H; Diaz, George A; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Lane Rutledge, S; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K L; Weisfeld-Adams, James D | Mitochondrion. | 2019 01; | 29307858 | |
| A recurrent de novo missense mutation in UBTF causes developmental neuroregression. | Toro, Camilo; Hori, Roderick T; Malicdan, May Christine V; Tifft, Cynthia J; Goldstein, Amy; Gahl, William A; Adams, David R; Harper, Fauni; Wolfe, Lynne A; Xiao, Jianfeng; Khan, Mohammad M; Tian, Jun; Hope, Kevin A; Reiter, Lawrence T; Tremblay, Michel G; Moss, Tom; Franks, Alexis L; Balak, Chris; C4RCD Research Group; LeDoux, Mark S | Human molecular genetics. | 2018 Feb 15; | 29300972 | |
| Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? | McConkie-Rosell, Allyn; Hooper, Stephen R; Pena, Loren D M; Schoch, Kelly; Spillmann, Rebecca C; Jiang, Yong-Hui; Cope, Heidi; Undiagnosed Diseases Network; Palmer, Christina; Shashi, Vandana | Journal of genetic counseling. | 2018 Jan 02; | 29297108 | |
| FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. | Piard, Juliette; Hu, Jia-Hua; Campeau, Philippe M; Rzonca, Sylwia; Van Esch, Hilde; Vincent, Elizabeth; Han, Mei; Rossignol, Elsa; Castaneda, Jennifer; Chelly, Jamel; Skinner, Cindy; Kalscheuer, Vera M; Wang, Ruihua; Lemyre, Emmanuelle; Kosinska, Joanna; Stawinski, Piotr; Bal, Jerzy; Hoffman, Dax A; Schwartz, Charles E; Van Maldergem, Lionel; Wang, Tao; Worley, Paul F | Human molecular genetics. | 2018 Feb 15; | 29267967 | |
| Undiagnosed diseases: Italy-US collaboration and international efforts to tackle rare and common diseases lacking a diagnosis. | Taruscio D, Floridia G, Salvatore M, Groft S, Gahl WA | Adv Exp Med Biol | 29214564 | ||
| A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. | Zhu, Xiaolin; Padmanabhan, Raghavendra; Copeland, Brett; Bridgers, Joshua; Ren, Zhong; Kamalakaran, Sitharthan; O'Driscoll-Collins, Ailbhe; Berkovic, Samuel F; Scheffer, Ingrid E; Poduri, Annapurna; Mei, Davide; Guerrini, Renzo; Lowenstein, Daniel H; Allen, Andrew S; Heinzen, Erin L; Goldstein, David B | PLoS genetics. | 2017 Nov; | 29186148 | |
| Patients with rare diseases: From therapeutic orphans to pioneers of personalized treatments. | Klein C, Gahl WA. | EMBO J | 2018 Jan | 29180354 | |
| DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. | Khan, Mohammad Moshahid; Xiao, Jianfeng; Patel, Damini; LeDoux, Mark S | Neurobiology of aging. | 2018 Feb; | 29154038 | |
| Genetic strategies to tackle neurological diseases in fruit flies. | ?entürk, Mümine; Bellen, Hugo J | Current opinion in neurobiology. | 2017 Nov 08; | 29128849 | |
| Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. | Mori, Mari; Haskell, Gloria; Kazi, Zoheb; Zhu, Xiaolin; DeArmey, Stephanie M; Goldstein, Jennifer L; Bali, Deeksha; Rehder, Catherine; Cirulli, Elizabeth T; Kishnani, Priya S | Molecular genetics and metabolism. | 2017 Dec; | 29122469 | |
| Systems Biology Approaches to Redox Metabolism in Stress and Disease States. | Wang, Rui-Sheng; Oldham, William M; Maron, Bradley A; Loscalzo, Joseph | Antioxidants & redox signaling. | 2018 10 01; | 29121773 | |
| Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause levodopa-responsive infantile-onset parkinsonism. | Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV. | Clin Genet | 2018 Mar | 29120065 | |
| Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. | Li, Chong; Brazill, Jennifer M; Liu, Sha; Bello, Christofer; Zhu, Yi; Morimoto, Marie; Cascio, Lauren; Pauly, Rini; Diaz-Perez, Zoraida; Malicdan, May Christine V; Wang, Hongbo; Boccuto, Luigi; Schwartz, Charles E; Gahl, William A; Boerkoel, Cornelius F; Zhai, R Grace | Nature communications. | 2017 Nov 02; | 29097652 | |
| Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. | Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. | Brain. | 2017 Nov 1 | 29053833 | |
| Defective ciliogenesis in INPP5E-related Joubert syndrome. | Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira C, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara E, Gunay-Aygun M, Zein WM, Gahl W, Malicdan MCV. | Am J Med Genet A | 10/20/2017 | 29052317 | |
| A novel inborn error of the Coenzyme Q10 biosynthesis pathway: Cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency. | Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira C, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. | Hum. Mutat. | 10/16/2017 | 29044765 | |
| Closing the Genotype-Phenotype Loop for Precision Medicine. | MacRae, Calum A; Seidman, Christine E | Circulation. | 2017 Oct 17; | 29038206 | |
| Rodent models in Down syndrome research: impact and future opportunities. | Herault, Yann; Delabar, Jean M; Fisher, Elizabeth M C; Tybulewicz, Victor L J; Yu, Eugene; Brault, Veronique | Disease models & mechanisms. | 2017 Oct 01; | 28993310 | |
| Adhesion G Protein-Coupled Receptors as Drug Targets. | Purcell, Ryan H; Hall, Randy A | Annual review of pharmacology and toxicology. | 2018 01 06; | 28968187 | |
| Y Not? Sex Chromosomes May Modify Sexual Dimorphism in Pulmonary Hypertension. | Austin, Eric D; Hamid, Rizwan | American journal of respiratory and critical care medicine. | 2018 Apr 01; | 28968140 | |
| Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. | Splinter, Kimberly; Hull, Sara Chandros; Holm, Ingrid A; McDonough, Tara L; Wise, Anastasia L; Ramoni, Rachel B; Members of the Undiagnosed Diseases Network | Clinical and translational science. | 2018 Jan; | 28945957 | |
| Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. | Pena, Loren D M; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G; Noel, Richard; Nagaraj, Shashi K; Lark, Robert K; Wechsler, Daniel S G; Del Gaudio, Daniela; Leung, Marco L; Hendon, Laura G; Parker, Collette C; Jones, Kelly L; Undiagnosed Diseases Network Members; Goldstein, David B; Shashi, Vandana | Genetics in medicine : official journal of the American College of Medical Genetics. | 2017 Sep 14; | 28914269 | |
| A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. | Purcell, Ryan H;Toro, Camilo;Gahl, William A;Hall, Randy A | Hum. Mutat. | 2017-09-10 | 28891236 | |
| Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na(+)/K(+) pump ATP?. | Hope, Kevin A; LeDoux, Mark S; Reiter, Lawrence T | Neurobiology of disease. | 2017 Dec; | 28888970 | |
| Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. | Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan; Posey, Jennifer E; Westerfield, Monte; Postlethwait, John; Members of the Undiagnosed Diseases Network (UDN); Hieter, Philip; Boycott, Kym M; Campeau, Philippe M; Bellen, Hugo J | Genetics. | 2017 Sep; | 28874452 | |
| Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders. | Feiglin, Ariel; Allen, Bryce K; Kohane, Isaac S; Kong, Sek Won | Cell systems. | 2017 Aug 23; | 28822752 | |
| Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. | Bostwick, Bret L; McLean, Scott; Posey, Jennifer E; Streff, Haley E; Gripp, Karen W; Blesson, Alyssa; Powell-Hamilton, Nina; Tusi, Jessica; Stevenson, David A; Farrelly, Ellyn; Hudgins, Louanne; Yang, Yaping; Xia, Fan; Wang, Xia; Liu, Pengfei; Walkiewicz, Magdalena; McGuire, Marianne; Grange, Dorothy K; Andrews, Marisa V; Hummel, Marybeth; Madan-Khetarpal, Suneeta; Infante, Elena; Coban-Akdemir, Zeynep; Miszalski-Jamka, Karol; Jefferies, John L; Members of the Undiagnosed Diseases Network; Rosenfeld, Jill A; Emrick, Lisa; Nugent, Kimberly M; Lupski, James R; Belmont, John W; Lee, Brendan; Lalani, Seema R | Genome medicine. | 2017 Aug 14; | 28807008 | |
| Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics. | Gussow, Ayal B; Copeland, Brett R; Dhindsa, Ryan S; Wang, Quanli; Petrovski, Slavé; Majoros, William H; Allen, Andrew S; Goldstein, David B | PloS one. | 2017; | 28797091 | |
| Annotating pathogenic non-coding variants in genic regions. | Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B | Nature communications. | 2017 Aug 09; | 28794409 | |
| Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? | Svingen, Leah;Goheen, Mitchell;Godfrey, Rena;Wahl, Colleen;Baker, Eva H;Gahl, William A;Malicdan, May Christine V;Toro, Camilo | Dev Med Child Neurol | 2017-08-01 | 28762473 | |
| Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. | Luo, Xi; Rosenfeld, Jill A; Yamamoto, Shinya; Harel, Tamar; Zuo, Zhongyuan; Hall, Melissa; Wierenga, Klaas J; Pastore, Matthew T; Bartholomew, Dennis; Delgado, Mauricio R; Rotenberg, Joshua; Lewis, Richard Alan; Emrick, Lisa; Bacino, Carlos A; Eldomery, Mohammad K; Coban Akdemir, Zeynep; Xia, Fan; Yang, Yaping; Lalani, Seema R; Lotze, Timothy; Lupski, James R; Lee, Brendan; Bellen, Hugo J; Wangler, Michael F; Members of the UDN | PLoS genetics. | 2017 Jul; | 28742085 | |
| Programmable base editing of zebrafish genome using a modified CRISPR-Cas9 system. | Zhang, Yihan; Qin, Wei; Lu, Xiaochan; Xu, Jason; Huang, Haigen; Bai, Haipeng; Li, Song; Lin, Shuo | Nature communications. | 2017 07 25; | 28740134 | |
| Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. | Armangue, Thais;Orsini, Joseph J;Takanohashi, Asako;Gavazzi, Francesco;Conant, Alex;Ulrick, Nicole;Morrissey, Mark A;Nahhas, Norah;Helman, Guy;Gordish-Dressman, Heather;Orcesi, Simona;Tonduti, Davide;Stutterd, Chloe;van Haren, Keith;Toro, Camilo;Iglesias, Alejandro D;van der Knaap, Marjo S;Goldbach Mansky, Raphaela;Moser, Anne B;Jones, Richard O;Vanderver, Adeline | Mol. Genet. Metab. | 2017-07-20 | 28739201 | |
| Serotonergic Modulation Enables Pathway-Specific Plasticity in a Developing Sensory Circuit in Drosophila. | Kaneko, Takuya; Macara, Ann Marie; Li, Ruonan; Hu, Yujia; Iwasaki, Kenichi; Dunnings, Zane; Firestone, Ethan; Horvatic, Shawn; Guntur, Ananya; Shafer, Orie T; Yang, Chung-Hui; Zhou, Jie; Ye, Bing | Neuron. | 2017 Aug 02; | 28712652 | |
| Pharmacological targeting of SPAK kinase in disorders of impaired epithelial transport. | Zhang, Jinwei; Karimy, Jason K; Delpire, Eric; Kahle, Kristopher T | Expert opinion on therapeutic targets. | 2017 Aug; | 28679296 | |
| Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. | Oprescu, Stephanie N; Chepa-Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C; Adams, David R; Toro, Camilo; Gropman, Andrea L; Hou, Ya-Ming; Malicdan, May Christine V; Gahl, William A; Tifft, Cynthia J; Antonellis, Anthony | Human mutation. | 2017 Jul 04; | 28675565 | |
| Systematic bacterialization of yeast genes identifies a near-universally swappable pathway. | Kachroo, Aashiq H; Laurent, Jon M; Akhmetov, Azat; Szilagyi-Jones, Madelyn; McWhite, Claire D; Zhao, Alice; Marcotte, Edward M | eLife. | 2017 Jun 29; | 28661399 | |
| The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. | Vassy, Jason L; Christensen, Kurt D; Schonman, Erica F; Blout, Carrie L; Robinson, Jill O; Krier, Joel B; Diamond, Pamela M; Lebo, Matthew; Machini, Kalotina; Azzariti, Danielle R; Dukhovny, Dmitry; Bates, David W; MacRae, Calum A; Murray, Michael F; Rehm, Heidi L; McGuire, Amy L; Green, Robert C; MedSeq Project | Annals of internal medicine. | 2017 Jun 27; | 28654958 | |
| Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy. | Xu X, Wang A, Latham LL, Celeste F, Ciccone C, Malicdan MC, Goldspiel B, Terse P, Cradock J, Yang N, Yorke S. McKew JC, Gahl WA, Huizing M, Carrillo N. | Mol Genet Metab | 2017 Sep | 28641925 | |
| Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. | Gall, Timothy;Valkanas, Elise;Bello, Christofer;Markello, Thomas;Adams, Christopher;Bone, William P;Brandt, Alexander J;Brazill, Jennifer M;Carmichael, Lynn;Davids, Mariska;Davis, Joie;Diaz-Perez, Zoraida;Draper, David;Elson, Jeremy;Flynn, Elise D;Godfrey, Rena;Groden, Catherine;Hsieh, Cheng-Kang;Fischer, Roxanne;Golas, Gretchen A;Guzman, Jessica;Huang, Yan;Kane, Megan S;Lee, Elizabeth;Li, Chong;Links, Amanda E;Maduro, Valerie;Malicdan, May Christine V;Malik, Fayeza S;Nehrebecky, Michele;Park, Joun;Pemberton, Paul;Schaffer, Katherine;Simeonov, Dimitre;Sincan, Murat;Smedley, Damian;Valivullah, Zaheer;Wahl, Colleen;Washington, Nicole;Wolfe, Lynne A;Xu, Karen;Zhu, Yi;Gahl, William A;Tifft, Cynthia J;Toro, Camillo;Adams, David R;He, Miao;Robinson, Peter N;Haendel, Melissa A;Zhai, R Grace;Boerkoel, Cornelius F | Front Med (Lausanne) | 2017-01-01 | 28603714 | |
| Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. | Drew, Kevin; Lee, Chanjae; Huizar, Ryan L; Tu, Fan; Borgeson, Blake; McWhite, Claire D; Ma, Yun; Wallingford, John B; Marcotte, Edward M | Molecular systems biology. | 2017 Jun 08; | 28596423 | |
| Genetically encoded fluorescent sensors reveal dynamic regulation of NADPH metabolism. | Tao, Rongkun; Zhao, Yuzheng; Chu, Huanyu; Wang, Aoxue; Zhu, Jiahuan; Chen, Xianjun; Zou, Yejun; Shi, Mei; Liu, Renmei; Su, Ni; Du, Jiulin; Zhou, Hai-Meng; Zhu, Linyong; Qian, Xuhong; Liu, Haiyan; Loscalzo, Joseph; Yang, Yi | Nature methods. | 2017 Jul; | 28581494 | |
| Building dialogues between clinical and biomedical research through cross-species collaborations. | Chao, Hsiao-Tuan; Liu, Lucy; Bellen, Hugo J | Seminars in cell & developmental biology. | 2017 Jun 01; | 28579453 | |
| A cell cycle-independent, conditional gene inactivation strategy for differentially tagging wild-type and mutant cells. | Nagarkar-Jaiswal, Sonal; Manivannan, Sathiya N; Zuo, Zhongyuan; Bellen, Hugo J | eLife. | 2017 May 31; | 28561736 | |
| Neutral Competition for Drosophila Follicle and Cyst Stem Cell Niches Requires Vesicle Trafficking Genes. | Cook, Matthew S; Cazin, Coralie; Amoyel, Marc; Yamamoto, Shinya; Bach, Erika; Nystul, Todd | Genetics. | 2017 Jul; | 28512187 | |
| Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy. | Cho, Anna;Christine, May;Malicdan, V;Miyakawa, Miho;Nonaka, Ikuya;Nishino, Ichizo;Noguchi, Satoru | Hum. Mol. Genet. | 2017-08-15 | 28505249 | |
| MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. | Wang, Julia; Al-Ouran, Rami; Hu, Yanhui; Kim, Seon-Young; Wan, Ying-Wooi; Wangler, Michael F; Yamamoto, Shinya; Chao, Hsiao-Tuan; Comjean, Aram; Mohr, Stephanie E; UDN; Perrimon, Norbert; Liu, Zhandong; Bellen, Hugo J | American journal of human genetics. | 2017 Jun 01; | 28502612 | |
| Initiating an undiagnosed diseases program in the Western Australian public health system. | Baynam, Gareth;Broley, Stephanie;Bauskis, Alicia;Pachter, Nicholas;McKenzie, Fiona;Townshend, Sharron;Slee, Jennie;Kiraly-Borri, Cathy;Vasudevan, Anand;Hawkins, Anne;Schofield, Lyn;Helmholz, Petra;Palmer, Richard;Kung, Stefanie;Walker, Caroline E;Molster, Caron;Lewis, Barry;Mina, Kym;Beilby, John;Pathak, Gargi;Poulton, Cathryn;Groza, Tudor;Zankl, Andreas;Roscioli, Tony;Dinger, Marcel E;Mattick, John S;Gahl, William;Groft, Stephen;Tifft, Cynthia;Taruscio, Domenica;Lasko, Paul;Kosaki, Kenjiro;Wilhelm, Helene;Melegh, Bela;Carapetis, Jonathan;Jana, Sayanta;Chaney, Gervase;Johns, Allison;Owen, Peter Wynn;Daly, Frank;Weeramanthri, Tarun;Dawkins, Hugh;Goldblatt, Jack | Orphanet J Rare Dis | 2017-05-03 | 28468665 | |
| Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. | Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D; Lincoln, Sharyn; Sweetser, David A; Briere, Lauren C; Harini, Chellamani; Members of the Undiagnosed Diseases Network; Marsh, Eric; Medne, Livija; Wang, Raymond Y; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L; van der Smagt, Jasper; Yousaf, Adeel; Tennison, Michael; Shanmugham, Anita; Butler, Elizabeth; Richard, Gabriele; McKnight, Dianalee | Journal of neurogenetics. | 2017 Mar - Jun; | 28460589 | |
| Chloride Dysregulation, Seizures, and Cerebral Edema: A Relationship with Therapeutic Potential. | Glykys, Joseph; Dzhala, Volodymyr; Egawa, Kiyoshi; Kahle, Kristopher T; Delpire, Eric; Staley, Kevin | Trends in neurosciences. | 2017 May; | 28431741 | |
| A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network. | Spillmann, Rebecca C; McConkie-Rosell, Allyn; Pena, Loren; Jiang, Yong-Hui; Undiagnosed Diseases Network; Schoch, Kelly; Walley, Nicole; Sanders, Camilla; Sullivan, Jennifer; Hooper, Stephen R; Shashi, Vandana | Orphanet journal of rare diseases. | 2017 Apr 17; | 28416019 | |
| Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy. | Barel, Ortal;Christine V Malicdan, May;Ben-Zeev, Bruria;Kandel, Judith;Pri-Chen, Hadass;Stephen, Joshi;Castro, Inês G;Metz, Jeremy;Atawa, Osama;Moshkovitz, Sharon;Ganelin, Eti;Barshack, Iris;Polak-Charcon, Sylvie;Nass, Dvora;Marek-Yagel, Dina;Amariglio, Ninette;Shalva, Nechama;Vilboux, Thierry;Ferreira, Carlos;Pode-Shakked, Ben;Heimer, Gali;Hoffmann, Chen;Yardeni, Tal;Nissenkorn, Andreea;Avivi, Camila;Eyal, Eran;Kol, Nitzan;Glick Saar, Efrat;Wallace, Douglas C;Gahl, William A;Rechavi, Gideon;Schrader, Michael;Eckmann, David M;Anikster, Yair | Brain | 2017-03-01 | 28364549 | |
| Induced Pluripotent Stem Cells in Pulmonary Arterial Hypertension. | Hamid, Rizwan; Yan, Ling | American journal of respiratory and critical care medicine. | 2017 04 01; | 28362194 | |
| Abnormal glycosylation in Joubert syndrome type 10. | Kane, Megan S;Davids, Mariska;Bond, Michelle R;Adams, Christopher J;Grout, Megan E;Phelps, Ian G;O'Day, Diana R;Dempsey, Jennifer C;Li, Xeuli;Golas, Gretchen;Vezina, Gilbert;Gunay-Aygun, Meral;Hanover, John A;Doherty, Dan;He, Miao;Malicdan, May Christine V;Gahl, William A;Boerkoel, Cornelius F | Cilia | 2017-01-01 | 28344780 | |
| Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. | Manolio, Teri A; Fowler, Douglas M; Starita, Lea M; Haendel, Melissa A; MacArthur, Daniel G; Biesecker, Leslie G; Worthey, Elizabeth; Chisholm, Rex L; Green, Eric D; Jacob, Howard J; McLeod, Howard L; Roden, Dan; Rodriguez, Laura Lyman; Williams, Marc S; Cooper, Gregory M; Cox, Nancy J; Herman, Gail E; Kingsmore, Stephen; Lo, Cecilia; Lutz, Cathleen; MacRae, Calum A; Nussbaum, Robert L; Ordovas, Jose M; Ramos, Erin M; Robinson, Peter N; Rubinstein, Wendy S; Seidman, Christine; Stranger, Barbara E; Wang, Haoyi; Westerfield, Monte; Bult, Carol | Cell. | 2017 Mar 23; | 28340351 | |
| Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. | Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A; Al Shamsi, Aisha; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L; Qu, Chunjing; Ding, Yan; Muzny, Donna M; Gibbs, Richard A; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E; Lupski, James R; Schaaf, Christian P; Yang, Yaping | Nature genetics. | 2017 Apr; | 28288113 | |
| Current Genetic Testing Tools in Neonatal Medicine. | Lalani, Seema R | Pediatrics and neonatology. | ; | 28277305 | |
| Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. | Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A; Balwi, Mohammed Al; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Shamsi, Aisha M Al; Komara, Makanko; Ali, Bassam R; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S; Manchester, David K; Magoulas, Pilar; King, Lauren E; Hannig, Vickie; Bonneau, Dominique; Denommé-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bézieau, Stéphane; Cogné, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M; Lupski, James R; Yang, Yaping; Patel, Ankita; Lalani, Seema R; Xia, Fan; Stankiewicz, Pawe? | Human genetics. | 2017 Apr; | 28251352 | |
| Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. | Stephen, Joshi;Vilboux, Thierry;Mian, Luhe;Kuptanon, Chulaluck;Sinclair, Courtney M;Yildirimli, Deniz;Maynard, Dawn M;Bryant, Joy;Fischer, Roxanne;Vemulapalli, Meghana;Mullikin, James C;;Huizing, Marjan;Gahl, William A;Malicdan, May Christine V;Gunay-Aygun, Meral | Hum. Genet. | 2017-02-20 | 28220259 | |
| Exome analysis of Smith-Magenis-like Syndrome cohort identifies de novo likely pathogenic variants. | Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC, NISC Comparative Sequencing Program, Gahl WA, Huizing M, Smith ACM. | Human Genet | 2017 Apr | 28213671 | |
| Molecular modeling in the age of clinical genomics, the enterprise of the next generation. | Prokop, Jeremy W; Lazar, Jozef; Crapitto, Gabrielle; Smith, D Casey; Worthey, Elizabeth A; Jacob, Howard J | Journal of molecular modeling. | 2017 Mar; | 28204942 | |
| ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13. | Zhang, Yihan;Huang, Haigen;Zhao, Gexin;Yokoyama, Tadafumi;Vega, Hugo;Huang, Yan;Sood, Raman;Bishop, Kevin;Maduro, Valerie;Accardi, John;Toro, Camilo;Boerkoel, Cornelius F;Lyons, Karen;Gahl, William A;Duan, Xiaohong;Malicdan, May Christine V;Lin, Shuo | PLoS Genet. | 2017-02-01 | 28158191 | |
| The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. | Ramoni, Rachel B; Mulvihill, John J; Adams, David R; Allard, Patrick; Ashley, Euan A; Bernstein, Jonathan A; Gahl, William A; Hamid, Rizwan; Loscalzo, Joseph; McCray, Alexa T; Shashi, Vandana; Tifft, Cynthia J; Undiagnosed Diseases Network; Wise, Anastasia L | American journal of human genetics. | 2017 Feb 02; | 28157539 | |
| A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. | Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana | American journal of human genetics. | 2017 Feb 02; | 28132692 | |
| Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. | Anikster, Yair;Haack, Tobias B;Vilboux, Thierry;Pode-Shakked, Ben;Thöny, Beat;Shen, Nan;Guarani, Virginia;Meissner, Thomas;Mayatepek, Ertan;Trefz, Friedrich K;Marek-Yagel, Dina;Martinez, Aurora;Huttlin, Edward L;Paulo, Joao A;Berutti, Riccardo;Benoist, Jean-François;Imbard, Apolline;Dorboz, Imen;Heimer, Gali;Landau, Yuval;Ziv-Strasser, Limor;Malicdan, May Christine V;Gemperle-Britschgi, Corinne;Cremer, Kirsten;Engels, Hartmut;Meili, David;Keller, Irene;Bruggmann, Rémy;Strom, Tim M;Meitinger, Thomas;Mullikin, James C;Schwartz, Gerard;Ben-Zeev, Bruria;Gahl, William A;Harper, J Wade;Blau, Nenad;Hoffmann, Georg F;Prokisch, Holger;Opladen, Thomas;Schiff, Manuel | Am. J. Hum. Genet. | 2017-01-26 | 28132689 | |
| Molecular genetic findings and clinical correlations in 100 patients with Joubert Syndrome and related disorders prospectively evaluated at a single center | Vilboux T, Doherty D, Glass IA, Parisi MA, Malicdan MC, Phelps IG, Cullinane AR, Zein W, Heller T, Soldatos A, Brooks BP, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, NIH Intramural Sequencing Center (NISC), Gahl WA, Gunay-Aygun M. | Genet Med | 2017 Aug | 28125082 | |
| New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. | Roohi, Jasmin; Crowe, Jennifer; Loredan, Denis; Anyane-Yeboa, Kwame; Mansukhani, Mahesh M; Omesi, Lenore; Levine, Jennifer; Revah Politi, Anya; Zha, Shan | Journal of human genetics. | 2017 Jan 26; | 28123174 | |
| Joubert syndrome: Neuroimaging findings in 110 patients with cognitive function and genetic cause. | Poretti A, Snow J, Summers A, Tekes A, Huisman T, Aygun N, Carson KA, Doherty, Parisi MA, Toro C, Yildrimili D, Vemalapalli M, Mullikin JC, NISC Comparative Sequencing Program, Cullinane A, Vilboux T, Gahl WA, Gunay-Aygun M. | J Med Genet | 2017 Aug | 28087721 | |
| Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. | Kambouris, Marios;Thevenon, Julien;Soldatos, Ariane;Cox, Allison;Stephen, Joshi;Ben-Omran, Tawfeg;Al-Sarraj, Yasser;Boulos, Hala;Bone, William;Mullikin, James C;;Masurel-Paulet, Alice;St-Onge, Judith;Dufford, Yannis;Chantegret, Corrine;Thauvin-Robinet, Christel;Al-Alami, Jamil;Faivre, Laurence;Riviere, Jean Baptiste;Gahl, William A;Bassuk, Alexander G;Malicdan, May Christine V;El-Shanti, Hatem | Ann Clin Transl Neurol | 2017-01-01 | 28078312 | |
| De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Undiagnosed Diseases Network; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny | American journal of human genetics. | 2017 Jan 05; | 28061364 | |
| CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency. | Vilboux T, Malicdan MC, Roney J, Cullinane A, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin J, Comparative Seqeuncing Program, NISC, Steinbach P, Gahl W, Gunay-Aygun M. | Am J Med Genet A | 2017 Mar | 28052552 | |
| Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype. | Zastrow, Diane B; Zornio, Patricia A; Dries, Annika; Kohler, Jennefer; Fernandez, Liliana; Waggott, Daryl; Walkiewicz, Magdalena; Eng, Christine M; Manning, Melanie A; Farrelly, Ellyn; Undiagnosed Diseases Network; Fisher, Paul G; Ashley, Euan A; Bernstein, Jonathan A; Wheeler, Matthew T | Cold Spring Harbor molecular case studies. | 2017 Jan; | 28050602 | |
| Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy. | Noguchi, Satoru;Ogawa, Megumu;Malicdan, May Christine;Nonaka, Ikuya;Nishino, Ichizo | EBioMedicine | 2017-02-01 | 28043812 | |
| Combined alpha-delta platelet storge pool deficiency is associated with mutations in GFI1B. | Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. | Mol Genet Metab | 2017 Mar | 28041820 | |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Bashamboo, Anu; Donohoue, Patricia A; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Members of UDN; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P; de Silva, Ksh; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F; McElreavey, Ken; Achermann, John C | Human molecular genetics. | 2016 Dec 27; | 28031288 | |
| The KCC3 cotransporter as a therapeutic target for peripheral neuropathy. | Delpire, Eric; Kahle, Kristopher T | Expert opinion on therapeutic targets. | 2017 Feb; | 28019725 | |
| Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers. | Gu, Mingxia; Shao, Ning-Yi; Sa, Silin; Li, Dan; Termglinchan, Vittavat; Ameen, Mohamed; Karakikes, Ioannis; Sosa, Gustavo; Grubert, Fabian; Lee, Jaecheol; Cao, Aiqin; Taylor, Shalina; Ma, Yu; Zhao, Zhixin; Chappell, James; Hamid, Rizwan; Austin, Eric D; Gold, Joseph D; Wu, Joseph C; Snyder, Michael P; Rabinovitch, Marlene | Cell stem cell. | 2017 04 06; | 28017794 | |
| A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. | Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G; Rosenfeld, Jill A; McCarty, Alexandra J; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K; Warr, Coral G; Undiagnosed Diseases Network; Yamamoto, Shinya; Adams, David R; Markello, Thomas C; Gahl, William A; Bellen, Hugo J; Wangler, Michael F; Malicdan, May Christine V | American journal of human genetics. | 2017 Jan 05; | 28017372 | |
| Challenges of Finding Novel Drugs Targeting the K-Cl Cotransporter. | Delpire, Eric; Weaver, C David | ACS chemical neuroscience. | 2016 Dec 21; | 27998063 | |
| Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. | Meyer, Esther;Carss, Keren J;Rankin, Julia;Nichols, John M E;Grozeva, Detelina;Joseph, Agnel P;Mencacci, Niccolo E;Papandreou, Apostolos;Ng, Joanne;Barral, Serena;Ngoh, Adeline;Ben-Pazi, Hilla;Willemsen, Michel A;Arkadir, David;Barnicoat, Angela;Bergman, Hagai;Bhate, Sanjay;Boys, Amber;Darin, Niklas;Foulds, Nicola;Gutowski, Nicholas;Hills, Alison;Houlden, Henry;Hurst, Jane A;Israel, Zvi;Kaminska, Margaret;Limousin, Patricia;Lumsden, Daniel;McKee, Shane;Misra, Shibalik;Mohammed, Shekeeb S;Nakou, Vasiliki;Nicolai, Joost;Nilsson, Magnus;Pall, Hardev;Peall, Kathryn J;Peters, Gregory B;Prabhakar, Prab;Reuter, Miriam S;Rump, Patrick;Segel, Reeval;Sinnema, Margje;Smith, Martin;Turnpenny, Peter;White, Susan M;Wieczorek, Dagmar;Wiethoff, Sarah;Wilson, Brian T;Winter, Gidon;Wragg, Christopher;Pope, Simon;Heales, Simon J H;Morrogh, Deborah;;;;Pittman, Alan;Carr, Lucinda J;Perez-Dueñas, Belen;Lin, Jean-Pierre;Reis, Andre;Gahl, William A;Toro, Camilo;Bhatia, Kailash P;Wood, Nicholas W;Kamsteeg, Erik-Jan;Chong, Wui K;Gissen, Paul;Topf, Maya;Dale, Russell C;Chubb, Jonathan R;Raymond, F Lucy;Kurian, Manju A | Nat. Genet. | 2017-02-01 | 27992417 | |
| Genetic screening in Iranian patients with retinoblastoma. | Shahraki, K;Ahani, A;Sharma, P;Faranoush, M;Bahoush, G;Torktaz, I;Gahl, W A;Naseripour, M;Behnam, B | Eye (Lond) | 2016-12-16 | 27983729 | |
| Responses to reductive stress in the cardiovascular system. | Handy, Diane E; Loscalzo, Joseph | Free radical biology & medicine. | 2016 Dec 08; | 27940350 | |
| A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1. | Delpire, Eric; Wolfe, Lynne; Flores, Bianca; Koumangoye, Rainelli; Schornak, Cara C; Omer, Salma; Pusey, Barbara; Lau, Christopher; Markello, Thomas; Adams, David R | Cold Spring Harbor molecular case studies. | 2016 Nov; | 27900370 | |
| Bi-allelic IARS Mutations in a Child with Intra-Uterine Growth Retardation, Neonatal Cholestasis, and Mild Developmental Delay. | Orenstein, Naama; Weiss, Karin; Oprescu, Stephanie N; Shapira, Rivka; Kidron, Dvora; Vanagaite-Basel, Lina; Antonellis, Anthony; Muenke, Maximilian | Clinical genetics. | ; | 27891590 | |
| Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. | Xiao, Jianfeng; Vemula, Satya R; Xue, Yi; Khan, Mohammad M; Carlisle, Francesca A; Waite, Adrian J; Blake, Derek J; Dragatsis, Ioannis; Zhao, Yu; LeDoux, Mark S | Neurobiology of disease. | 2017 Feb; | 27890709 | |
| Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. | Oprescu, Stephanie N; Griffin, Laurie B; Beg, Asim A; Antonellis, Anthony | Methods (San Diego, Calif.). | ; | 27876679 | |
| Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. | Swanger, Sharon A;Chen, Wenjuan;Wells, Gordon;Burger, Pieter B;Tankovic, Anel;Bhattacharya, Subhrajit;Strong, Katie L;Hu, Chun;Kusumoto, Hirofumi;Zhang, Jing;Adams, David R;Millichap, John J;Petrovski, Slavé;Traynelis, Stephen F;Yuan, Hongjie | Am. J. Hum. Genet. | 2016-12-01 | 27839871 | |
| Zebrafish Genome Engineering Using the CRISPR-Cas9 System. | Li, Mingyu; Zhao, Liyuan; Page-McCaw, Patrick S; Chen, Wenbiao | Trends in genetics : TIG. | 2016 Dec; | 27836208 | |
| Sudden infant death "syndrome"-Insights and future directions from a Utah population database analysis. | Christensen ED, Berger J, Alashari MM, Coon H, Robison C, Ho HT, Adams DR, Gahl WA, Smith KR, Opitz JM, Johnson DR. | Am J Med Genet A | 2016 Oct | 27792857 | |
| Mouse-based genetic modeling and analysis of Down syndrome. | Xing, Zhuo; Li, Yichen; Pao, Annie; Bennett, Abigail S; Tycko, Benjamin; Mobley, William C; Yu, Y Eugene | British medical bulletin. | 2016 12; | 27789459 | |
| Genome-wide significance testing of variation from single case exomes. | Wilfert AB, Chao KR, Kaushal M, Jain S, Zollner S, Adams DR, Conrad DF. | Nat Genet | 2016 Oct | 27776118 | |
| Genome evolution in the allotetraploid frog Xenopus laevis. | Session, Adam M; Uno, Yoshinobu; Kwon, Taejoon; Chapman, Jarrod A; Toyoda, Atsushi; Takahashi, Shuji; Fukui, Akimasa; Hikosaka, Akira; Suzuki, Atsushi; Kondo, Mariko; van Heeringen, Simon J; Quigley, Ian; Heinz, Sven; Ogino, Hajime; Ochi, Haruki; Hellsten, Uffe; Lyons, Jessica B; Simakov, Oleg; Putnam, Nicholas; Stites, Jonathan; Kuroki, Yoko; Tanaka, Toshiaki; Michiue, Tatsuo; Watanabe, Minoru; Bogdanovic, Ozren; Lister, Ryan; Georgiou, Georgios; Paranjpe, Sarita S; van Kruijsbergen, Ila; Shu, Shengquiang; Carlson, Joseph; Kinoshita, Tsutomu; Ohta, Yuko; Mawaribuchi, Shuuji; Jenkins, Jerry; Grimwood, Jane; Schmutz, Jeremy; Mitros, Therese; Mozaffari, Sahar V; Suzuki, Yutaka; Haramoto, Yoshikazu; Yamamoto, Takamasa S; Takagi, Chiyo; Heald, Rebecca; Miller, Kelly; Haudenschild, Christian; Kitzman, Jacob; Nakayama, Takuya; Izutsu, Yumi; Robert, Jacques; Fortriede, Joshua; Burns, Kevin; Lotay, Vaneet; Karimi, Kamran; Yasuoka, Yuuri; Dichmann, Darwin S; Flajnik, Martin F; Houston, Douglas W; Shendure, Jay; DuPasquier, Louis; Vize, Peter D; Zorn, Aaron M; Ito, Michihiko; Marcotte, Edward M; Wallingford, John B; Ito, Yuzuru; Asashima, Makoto; Ueno, Naoto; Matsuda, Yoichi; Veenstra, Gert Jan C; Fujiyama, Asao; Harland, Richard M; Taira, Masanori; Rokhsar, Daniel S | Nature. | 2016 10 20; | 27762356 | |
| Genomic sequencing in clinical practice: applications, challenges, and opportunities. | Krier, Joel B; Kalia, Sarah S; Green, Robert C | Dialogues in clinical neuroscience. | 2016 Sep; | 27757064 | |
| Tissue Specificity of Human Disease Module. | Kitsak, Maksim; Sharma, Amitabh; Menche, Jörg; Guney, Emre; Ghiassian, Susan Dina; Loscalzo, Joseph; Barabási, Albert-László | Scientific reports. | 2016 Oct 17; | 27748412 | |
| De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. | Shashi, Vandana; Pena, Loren D M; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M; Cho, Megan; Stong, Nicholas; Hickey, Scott E; Shuss, Christine M; Undiagnosed Diseases Network; Freemark, Michael S; Bellet, Jane S; Keels, Martha Ann; Bonner, Melanie J; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G; Stumpel, Constance T R M; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; Petrovski, Slavé; Kuismin, Outi; Korpi-Heikkilä, Satu; Pietilainen, Olli; Aarno, Palotie; Kurki, Mitja I; Hoischen, Alexander; Need, Anna C; Goldstein, David B; Kortüm, Fanny | American journal of human genetics. | 2016 Oct 06; | 27693232 | |
| Early somatic mosaicism is a rare cause of long-QT syndrome. | Priest, James Rush; Gawad, Charles; Kahlig, Kristopher M; Yu, Joseph K; O'Hara, Thomas; Boyle, Patrick M; Rajamani, Sridharan; Clark, Michael J; Garcia, Sarah T K; Ceresnak, Scott; Harris, Jason; Boyle, Sean; Dewey, Frederick E; Malloy-Walton, Lindsey; Dunn, Kyla; Grove, Megan; Perez, Marco V; Neff, Norma F; Chen, Richard; Maeda, Katsuhide; Dubin, Anne; Belardinelli, Luiz; West, John; Antolik, Christian; Macaya, Daniela; Quertermous, Thomas; Trayanova, Natalia A; Quake, Stephen R; Ashley, Euan A | Proceedings of the National Academy of Sciences of the United States of America. | 2016 Oct 11; | 27681629 | |
| Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B. | Mohammad S, Wolfe LA, Stöbe P, Biskup S, Wainwright MS, Melin-Aldana H, Malladi P, Muenke M, Gahl WA, Whitington PF. | J Pediatr | 2016 Sep | 27640355 | |
| Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. | Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Gu, Shen; Coban-Akdemir, Zeynep; Eldomery, Mohammad K; Posey, Jennifer E; Jhangiani, Shalini N; Rosenfeld, Jill A; Cho, Megan T; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A; Smith, Joshua D; McLaughlin, Heather M; Eng, Christine M; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M; Lotze, Timothy E; Boerwinkle, Eric; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics; Gibbs, Richard A; Hickey, Scott E; Graham, Brett H; Yang, Yaping; Buhas, Daniela; Martin, Donna M; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J; Lupski, James R | American journal of human genetics. | 2016 Oct 06; | 27640307 | |
| Comparison of Protein N-Homocysteinylation in Rat Plasma under Elevated Homocysteine Using a Specific Chemical Labeling Method. | Zang, Tianzhu; Pottenplackel, Ligi Paul; Handy, Diane E; Loscalzo, Joseph; Dai, Shujia; Deth, Richard C; Zhou, Zhaohui Sunny; Ma, Jisheng | Molecules (Basel, Switzerland). | 2016 Sep 08; | 27617989 | |
| The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons. | Hope, Kevin A; LeDoux, Mark S; Reiter, Lawrence T | Epigenetics. | 2016 09; | 27599063 | |
| Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. | Shahrour, M A;Staretz-Chacham, O;Dayan, D;Stephen, J;Weech, A;Damseh, N;Pri Chen, H;Edvardson, S;Mazaheri, S;Saada, A;;Hershkovitz, E;Shaag, A;Huizing, M;Abu-Libdeh, B;Gahl, W A;Azem, A;Anikster, Y;Vilboux, T;Elpeleg, O;Malicdan, M C | Clin. Genet. | 2017-05-01 | 27573165 | |
| Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD. | Wagner, Erin K; Raychaudhuri, Soumya; Villalonga, Mercedes B; Java, Anuja; Triebwasser, Michael P; Daly, Mark J; Atkinson, John P; Seddon, Johanna M | Scientific reports. | 2016 Aug 30; | 27572114 | |
| Genetic Misdiagnoses and the Potential for Health Disparities. | Manrai, Arjun K; Funke, Birgit H; Rehm, Heidi L; Olesen, Morten S; Maron, Bradley A; Szolovits, Peter; Margulies, David M; Loscalzo, Joseph; Kohane, Isaac S | The New England journal of medicine. | 2016 Aug 18; | 27532831 | |
| Phenotypic evolution of UNC80 loss of function. | Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. | Am J Med Genet A | 2016 Aug | 27513830 | |
| Adaptions to Hypoxia and Redox Stress: Essential Concepts Confounded by Misleading Terminology. | Loscalzo, Joseph | Circulation research. | 2016 Aug 5; | 27492841 | |
| Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. | Donti, Taraka R; Masand, Ruchi; Scott, Daryl A; Craigen, William J; Graham, Brett H | Molecular genetics and metabolism | 2016 Sep | 27484306 | |
| Multiplex conditional mutagenesis in zebrafish using the CRISPR/Cas system. | Yin, L; Maddison, L A; Chen, W | Methods in cell biology. | 2016; | 27443918 | |
| The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families. | Guzman J, Lee E, Draper D, Valivullah Z, Yu G, Sincan M, Gahl WA, Adams DR. | Children | 2015 Jul | 27417368 | |
| De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. | Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bonnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. | J Med Genet | 2016 Jul | 27389779 | |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. | Lam, Christina;Ferreira, Carlos;Krasnewich, Donna;Toro, Camilo;Latham, Lea;Zein, Wadih M;Lehky, Tanya;Brewer, Carmen;Baker, Eva H;Thurm, Audrey;Farmer, Cristan A;Rosenzweig, Sergio D;Lyons, Jonathan J;Schreiber, John M;Gropman, Andrea;Lingala, Shilpa;Ghany, Marc G;Solomon, Beth;Macnamara, Ellen;Davids, Mariska;Stratakis, Constantine A;Kimonis, Virginia;Gahl, William A;Wolfe, Lynne | Genet. Med. | 2017-02-01 | 27388694 | |
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. | Bashamboo, Anu; Donohoue, Patricia A; Vilain, Eric; Rojo, Sandra; Calvel, Pierre; Seneviratne, Sumudu N; Buonocore, Federica; Barseghyan, Hayk; Bingham, Nathan; Rosenfeld, Jill A; Mulukutla, Surya Narayan; Jain, Mahim; Burrage, Lindsay; Dhar, Shweta; Balasubramanyam, Ashok; Lee, Brendan; Members of UDN; Dumargne, Marie-Charlotte; Eozenou, Caroline; Suntharalingham, Jenifer P; de Silva, Ksh; Lin, Lin; Bignon-Topalovic, Joelle; Poulat, Francis; Lagos, Carlos F; McElreavey, Ken; Achermann, John C | Human molecular genetics. | 2016 Aug 15; | 27378692 | |
| Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome. | Kane MS, Vilboux T, Wolfe LA, Lee PR, Wang Y, Huddleston KC, Vockley JG, Niederhuber JE, Solomon BD | Brain | 2016 Sep | 27343256 | |
| The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine. | MacRae, Calum A; Vasan, Ramachandran S | Circulation. | 2016 Jun 21; | 27324359 | |
| Endophenotype Network Models: Common Core of Complex Diseases. | Ghiassian, Susan Dina; Menche, Jörg; Chasman, Daniel I; Giulianini, Franco; Wang, Ruisheng; Ricchiuto, Piero; Aikawa, Masanori; Iwata, Hiroshi; Müller, Christian; Zeller, Tania; Sharma, Amitabh; Wild, Philipp; Lackner, Karl; Singh, Sasha; Ridker, Paul M; Blankenberg, Stefan; Barabási, Albert-László; Loscalzo, Joseph | Scientific reports. | 2016 Jun 09; | 27278246 | |
| Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. | Lee EM, Xu K, Mosbrook E, Links A, Guzman J, Adams DR, Flynn E, Valkanas E, Toro C, Tifft CJ, Boerkoel CF, Gahl WA, Sincan M. | Genet Med | 2016 Jun | 27253732 | |
| Multidimensional structure-function relationships in human ?-cardiac myosin from population-scale genetic variation. | Homburger, Julian R; Green, Eric M; Caleshu, Colleen; Sunitha, Margaret S; Taylor, Rebecca E; Ruppel, Kathleen M; Metpally, Raghu Prasad Rao; Colan, Steven D; Michels, Michelle; Day, Sharlene M; Olivotto, Iacopo; Bustamante, Carlos D; Dewey, Frederick E; Ho, Carolyn Y; Spudich, James A; Ashley, Euan A | Proceedings of the National Academy of Sciences of the United States of America. | 2016 Jun 14; | 27247418 | |
| Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. | Maduro, Valerie; Pusey, Barbara N; Cherukuri, Praveen F; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David R; Bhatt, Samarth S; Eydoux, Patrice; Links, Amanda E; Lehman, Anna; Malicdan, May C; Mason, Christopher E; Mor | Orphanet journal of rare diseases. | 2016 May 14; | 27179618 | |
| Motor phenotypes and molecular networks associated with germline deficiency of Ciz1. | Xiao, Jianfeng; Vemula, Satya R; Xue, Yi; Khan, Mohammad M; Kuruvilla, Korah P; Marquez-Lona, Esther M; Cobb, Madison R; LeDoux, Mark S | Experimental neurology. | 2016 May 7; | 27163549 | |
| The Undiagnosed Diseases Program--Reply. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA. | 2016 May 03; | 27139070 | |
| Illuminating drug action by network integration of disease genes: a case study of myocardial infarction. | Wang, Rui-Sheng; Loscalzo, Joseph | Molecular bioSystems. | 2016 Apr 26; | 27004607 | |
| Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. | Sadat, Roa; Barca, Emanuele; Masand, Ruchi; Donti, Taraka R; Naini, Ali; De Vivo, Darryl C; DiMauro, Salvatore; Hanchard, Neil A; Graham, Brett H | Molecular genetics and metabolism. | 2016 May; | 26992325 | |
| Leptin signaling regulates glucose homeostasis, but not adipostasis, in the zebrafish. | Michel, Maximilian; Page-McCaw, Patrick S; Chen, Wenbiao; Cone, Roger D | Proceedings of the National Academy of Sciences of the United States of America. | 2016 Mar 15; | 26903647 | |
| Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders. | Rosell, Allyn McConkie; Pena, Loren D M; Schoch, Kelly; Spillmann, Rebecca; Sullivan, Jennifer; Hooper, Stephen R; Jiang, Yong-Hui; Mathey-Andrews, Nicolas; Goldstein, David B; Shashi, Vandana | Journal of genetic counseling. | 2016 Oct; | 26868367 | |
| The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. | Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN.. | Mol Genet Metab | 2016 Apr | 26846157 | |
| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. | Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program., Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF. | Am J Hum Genet | 2016 Feb | 26805780 | |
| A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers | Schernthaner-Reiter MH, Adams D, Trivellin G, Ramnitz MS, Raygada M, Golas G, Faucz FR Nilsson LA, Nella A, Dileepan K, Lodish M, Lee P, Tifft C, Markello T, Gahl W, Stratakis CA | Eur J Pediatr | 2016 May | 26795631 | |
| Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration. | Davids M, Kane MS, He M, Wolfe LA, Li X, Raihan MA, Chao KR, Bone WP, Boerkoel CF, Gahl WA, Toro C. | J Med Genet | 2016 Mar | 26668131 | |
| Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data. | Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K; NISC Comparative Sequencing Program, Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF. | BMC Genomics | 2015 Nov 25 | 26602380 | |
| Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. | Burrage, Lindsay C; Miller, Marcus J; Wong, Lee-Jun; Kennedy, Adam D; Sutton, V Reid; Sun, Qin; Elsea, Sarah H; Graham, Brett H | The Journal of pediatrics. | 2016 Feb; | 208-213.e2 | 26602010 |
| Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. | Taruscio D, Groft S, Cederroth H, Melegh B, Lasko P, Kosaki K, Baynam G, McCray A, Gahl WA. | Mol Genet Metab | 2015 Dec | 26596705 | |
| Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. | Bone, William P; Washington, Nicole L; Buske, Orion J; Adams, David R; Davis, Joie; Draper, David; Flynn, Elise D; Girdea, Marta; Godfrey, Rena; Golas, Gretchen; Groden, Catherine; Jacobsen, Julius; Köhler, Sebastian; Lee, Elizabeth M J; Links, Amanda E; Markello, Thomas C; Mungall, Christopher J; Nehrebecky, Michele; Robinson, Peter N; Sincan, Murat; Soldatos, Ariane G; Tifft, Cynthia J; Toro, Camilo; Trang, Heather; Valkanas, Elise; Vasilevsky, Nicole; Wahl, Colleen; Wolfe, Lynne A; Boerkoel, Cornelius F; Brudno, Michael; Haendel, Melissa A; Gahl, William A; Smedley, Damian | Genetics in medicine : official journal of the American College of Medical Genetics. | 2016 Jun; | 26562225 | |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease. | Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, Aksoy A, De Vivo DC, Jain P, Geckinli BB, Sezer O, Gul D, Durmaz B, Cogulu O, Ozkinay F, Topcu V, Candan S, Cebi AH, Ikbal M, Yilmaz Gulec E, Gezdirici A, Koparir E, Ekici F, Coskun S, Cicek S, Karaer K, Koparir A, Duz MB, Kirat E, Fenercioglu E, Ulucan H, Seven M, Guran T, Elcioglu N, Yildirim MS, Aktas D, Alikaşifoğlu M, Ture M, Yakut T, Overton JD, Yuksel A, Ozen M, Muzny DM, Adams DR, Boerwinkle E, Chung WK, Gibbs RA, Lupski JR. | Neuron | 2015 Nov 4 | 26539891 | |
| Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration. | Triebwasser, Michael P; Roberson, Elisha D O; Yu, Yi; Schramm, Elizabeth C; Wagner, Erin K; Raychaudhuri, Soumya; Seddon, Johanna M; Atkinson, John P | Investigative ophthalmology & visual science. | 2015 Oct; | 6873-8 | 26501415 |
| An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. | Cassa, Christopher A; Smith, Stacy E; Docken, William; Hoffman, Erin; McLaughlin, Heather; Chun, Sung; Leshchiner, Ignaty; Miraoui, Hichem; Raychaudhuri, Soumya; Frank, Natasha Y; Wilson, Brian J; Sunyaev, Shamil R; Maas, Richard L; Brigham Genomic Medicine; Vuzman, Dana | Rheumatology (Oxford, England). | 2016 Mar; | 26493744 | |
| Estrogen Metabolite 16?-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism. | Chen, Xinping; Talati, Megha; Fessel, Joshua P; Hemnes, Anna R; Gladson, Santhi; French, Jaketa; Shay, Sheila; Trammell, Aaron; Phillips, John A; Hamid, Rizwan; Cogan, Joy D; Dawson, Elliott P; Womble, Kristie E; Hedges, Lora K; Martinez, Elizabeth G; Wheeler, Lisa A; Loyd, James E; Majka, Susan J; West, James; Austin, Eric D | Circulation. | 2016 Jan 5; | 82-97 | 26487756 |
| Genome engineering: Drosophila melanogaster and beyond. | Venken, Koen J T; Sarrion-Perdigones, Alejandro; Vandeventer, Paul J; Abel, Nicholas S; Christiansen, Audrey E; Hoffman, Kristi L | Wiley interdisciplinary reviews. Developmental biology. | 2016 Mar; | 233-67 | 26447401 |
| Glucagon receptor inactivation leads to ?-cell hyperplasia in zebrafish. | Li, Mingyu; Dean, E Danielle; Zhao, Liyuan; Nicholson, Wendell E; Powers, Alvin C; Chen, Wenbiao | The Journal of endocrinology. | 2015 Nov; | 93-103 | 26446275 |
| Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. | Chopra, Sameer S; Leshchiner, Ignaty; Duzkale, Hatice; McLaughlin, Heather; Giovanni, Monica; Zhang, Chengsheng; Stitziel, Nathan; Fingeroth, Joyce; Joyce, Robin M; Lebo, Matthew; Rehm, Heidi; Vuzman, Dana; Maas, Richard; Sunyaev, Shamil R; Murray, Michael; Cassa, Christopher A | Molecular genetics & genomic medicine. | ; | 26436107 | |
| FGF1 Mediates Overnutrition-Induced Compensatory ?-Cell Differentiation. | Li, Mingyu; Page-McCaw, Patrick; Chen, Wenbiao | Diabetes. | 2016 Jan; | 96-109 | 26420862 |
| The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA. | 2015 Nov 3; | 1797-8 | 26375289 |
| Genetic dissection of the Down syndrome critical region. | Jiang, Xiaoling; Liu, Chunhong; Yu, Tao; Zhang, Li; Meng, Kai; Xing, Zhuo; Belichenko, Pavel V; Kleschevnikov, Alexander M; Pao, Annie; Peresie, Jennifer; Wie, Sarah; Mobley, William C; Yu, Y Eugene | Human molecular genetics. | 2015 Nov 15; | 6540-51 | 26374847 |
| The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. | Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B. | Am J Med Genet A | 2016 Jan | 26373698 | |
| The Matchmaker Exchange: a platform for rare disease gene discovery. | Philippakis, Anthony A; Azzariti, Danielle R; Beltran, Sergi; Brookes, Anthony J; Brownstein, Catherine A; Brudno, Michael; Brunner, Han G; Buske, Orion J; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O M; den Dunnen, Johan T; Firth, Helen V; Gibbs, Richard A; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A; Hamosh, Ada; Holm, Ingrid A; Huang, Lijia; Hurles, Matthew E; Hutton, Ben; Krier, Joel B; Misyura, Andriy; Mungall, Christopher J; Paschall, Justin; Paten, Benedict; Robinson, Peter N; Schiettecatte, François; Sobreira, Nara L; Swaminathan, Ganesh J; Taschner, Peter E; Terry, Sharon F; Washington, Nicole L; Züchner, Stephan; Boycott, Kym M; Rehm, Heidi L | Human mutation. | 2015 Oct; | 915-21 | 26295439 |
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. | Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, Adams D, Gahl WA, Boycott KM, Brudno M. | Hum Mutat | 2015 Oct | 26251998 | |
| Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells. | Paull D, Sevilla A, Zhou H, Hahn AK, Kim H, Napolitano C, Tsankov A, Shang L, Krumholz K, Jagadeesan P, Woodard CM, Sun B, Vilboux T, Zimmer M, Forero E, Moroziewicz DN, Martinez H, Malicdan MC, Weiss KA, Vensand LB, Dusenberry CR, Polus H, et al. | Nat Methods | 2015 Sep | 26237226 | |
| Data sharing in the undiagnosed diseases network. | Brownstein, Catherine A; Holm, Ingrid A; Ramoni, Rachel; Goldstein, David B; Members of the Undiagnosed Diseases Network | Human mutation. | 2015 Oct; | 985-8 | 26220576 |
| Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. | Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T; Wolfe, Lynne A; Tifft, Cynthia J; Zerfas, Patricia M; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G; Lee, Chyi-Chia R; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J; Chung, Hon-Yin Brian; Le Caignec, Cédric; Martins, Fabiana; Jacyk, Witold K; Mazzanti, Laura; Brunner, Han G; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V; Boerkoel, Cornelius F; Gahl, William A; de Vries, Bert B A; van Haelst, Mieke M; Zenker, Martin; Markello, Thomas C | American journal of human genetics. | 2015 Jul 2; | 99-110 | 26119818 |
| High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. | Varshney, Gaurav K; Pei, Wuhong; LaFave, Matthew C; Idol, Jennifer; Xu, Lisha; Gallardo, Viviana; Carrington, Blake; Bishop, Kevin; Jones, MaryPat; Li, Mingyu; Harper, Ursula; Huang, Sunny C; Prakash, Anupam; Chen, Wenbiao; Sood, Raman; Ledin, Johan; Burgess, Shawn M | Genome research. | 2015 Jul; | 1030-42 | 26048245 |
| Hhex is Required at Multiple Stages of Adult Hematopoietic Stem and Progenitor Cell Differentiation. | Goodings, Charnise; Smith, Elizabeth; Mathias, Elizabeth; Elliott, Natalina; Cleveland, Susan M; Tripathi, Rati M; Layer, Justin H; Chen, Xi; Guo, Yan; Shyr, Yu; Hamid, Rizwan; Du, Yang; Davé, Utpal P | Stem cells (Dayton, Ohio). | 2015 Aug; | 25968920 | |
| Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. | Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MC, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, et al. | Mol Genet Metab | 2015 Jun-Jul | 25943031 | |
| Systems medicine: evolution of systems biology from bench to bedside. | Wang, Rui-Sheng; Maron, Bradley A; Loscalzo, Joseph | Wiley interdisciplinary reviews. Systems biology and medicine. | 2015 Jul-Aug; | 141-61 | 25891169 |
| Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome. | Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF. | Orphanet J Rare Dis | 2015 Mar 7 | 25888122 | |
| Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension. | Newman, John H; Holt, Timothy N; Cogan, Joy D; Womack, Bethany; Phillips 3rd, John A; Li, Chun; Kendall, Zachary; Stenmark, Kurt R; Thomas, Milton G; Brown, R Dale; Riddle, Suzette R; West, James D; Hamid, Rizwan | Nature communications. | 2015; | 25873470 | |
| Multiplex Conditional Mutagenesis Using Transgenic Expression of Cas9 and sgRNAs. | Yin, Linlin; Maddison, Lisette A; Li, Mingyu; Kara, Nergis; LaFave, Matthew C; Varshney, Gaurav K; Burgess, Shawn M; Patton, James G; Chen, Wenbiao | Genetics. | 2015 Jun; | 431-41 | 25855067 |
| MED23-associated intellectual disability in a non-consanguineous family. | Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. | Am J Med Genet A | 2015 Jun | 25845469 | |
| A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila. | Nagarkar-Jaiswal, Sonal; Lee, Pei-Tseng; Campbell, Megan E; Chen, Kuchuan; Anguiano-Zarate, Stephanie; Gutierrez, Manuel Cantu; Busby, Theodore; Lin, Wen-Wen; He, Yuchun; Schulze, Karen L; Booth, Benjamin W; Evans-Holm, Martha; Venken, Koen J T; Levis, Robert W; Spradling, Allan C; Hoskins, Roger A; Bellen, Hugo J | eLife. | 2015; | 25824290 | |
| Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. | Simons, Cas; Griffin, Laurie B; Helman, Guy; Golas, Gretchen; Pizzino, Amy; Bloom, Miriam; Murphy, Jennifer L P; Crawford, Joanna; Evans, Sarah H; Topper, Scott; Whitehead, Matthew T; Schreiber, John M; Chapman, Kimberly A; Tifft, Cyndi; Lu, Katrina B; Gamper, Howard; Shigematsu, Megumi; Taft, Ryan J; Antonellis, Anthony; Hou, Ya-Ming; Vanderver, Adeline | American journal of human genetics. | 2015 Apr 2; | 675-81 | 25817015 |
| Gene-specific cell labeling using MiMIC transposons. | Gnerer, Joshua P; Venken, Koen J T; Dierick, Herman A | Nucleic acids research. | 2015 Apr 30; | e56 | 25712101 |
| Disease networks. Uncovering disease-disease relationships through the incomplete interactome. | Menche, Jörg; Sharma, Amitabh; Kitsak, Maksim; Ghiassian, Susan Dina; Vidal, Marc; Loscalzo, Joseph; Barabási, Albert-László | Science (New York, N.Y.). | 2015 Feb 20; | 25700523 | |
| Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. | Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH. | Hum Mol Genet | 2015 Jun 1 | 25678555 | |
| Rare variants in RTEL1 are associated with familial interstitial pneumonia. | Cogan, Joy D; Kropski, Jonathan A; Zhao, Min; Mitchell, Daphne B; Rives, Lynette; Markin, Cheryl; Garnett, Errine T; Montgomery, Keri H; Mason, Wendi R; McKean, David F; Powers, Julia; Murphy, Elissa; Olson, Lana M; Choi, Leena; Cheng, Dong-Sheng; Blue, Elizabeth Marchani; Young, Lisa R; Lancaster, Lisa H; Steele, Mark P; Brown, Kevin K; Schwarz, Marvin I; Fingerlin, Tasha E; Schwartz, David A; Lawson, William E; Loyd, James E; Zhao, Zhongming; Phillips 3rd, John A; Blackwell, Timothy S | American journal of respiratory and critical care medicine. | 2015 Mar 15; | 646-55 | 25607374 |
| York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. | Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M. | Mol Genet Metab | 2015 Mar | 25577287 | |
| DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. | Wolf NI, Toro C, Kister I, Latif KA, Leventer R, Pizzino A, Simons C, Abbink TE, Taft RJ, van der Knaap MS, Vanderver A. | Neurology | 2015 Jan 20 | 25527264 | |
| Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease. | Kropski, Jonathan A; Pritchett, Jason M; Zoz, Donald F; Crossno, Peter F; Markin, Cheryl; Garnett, Errine T; Degryse, Amber L; Mitchell, Daphne B; Polosukhin, Vasiliy V; Rickman, Otis B; Choi, Leena; Cheng, Dong-Sheng; McConaha, Melinda E; Jones, Brittany R; Gleaves, Linda A; McMahon, Frank B; Worrell, John A; Solus, Joseph F; Ware, Lorraine B; Lee, Jae Woo; Massion, Pierre P; Zaynagetdinov, Rinat; White, Eric S; Kurtis, Jonathan D; Johnson, Joyce E; Groshong, Steve D; Lancaster, Lisa H; Young, Lisa R; Steele, Mark P; Phillips Iii, John A; Cogan, Joy D; Loyd, James E; Lawson, William E; Blackwell, Timothy S | American journal of respiratory and critical care medicine. | 2015 Feb 15; | 417-26 | 25389906 |
| The National Institutes of Health undiagnosed diseases program. | Tifft CJ, Adams DR. | Curr Opin Pediatr | 2014 Dec | 25313974 | |
| ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination. | Shehata L, Simeonov DR, Raams A, Wolfe L, Vanderver A, Li X, Huang Y, Garner S, Boerkoel CF, Thurm A, Herman GE, Tifft CJ, He M, Jaspers NG, Gahl WA. | Am J Med Genet A | 2014 Nov | 25251875 | |
| A Novel SHOC2 Variant in Rasopathy. | Hannig, Vickie; Jeoung, Myoungkun; Jang, Eun Ryoung; Phillips 3rd, John A; Galperin, Emilia | Human mutation. | 2014 Nov; | 1290-4 | 25137548 |
| Important role of translational science in rare disease innovation, discovery, and drug development. | Pariser AR, Gahl WA. | J Gen Intern Med | 2014 Aug | 25029971 | |
| Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. | Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, et al. | Mol Genet Metab | 2014 Nov | 24863970 | |
| GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine. | Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA. | Ann Clin Transl Neurol | 2014 Mar 1 | 24839611 | |
| The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. | Lawrence L, Sincan M, Markello T, Adams DR, Gill F, Godfrey R, Golas G, Groden C, Landis D, Nehrebecky M, Park G, Soldatos A, Tifft C, Toro C, Wahl C, Wolfe L, Gahl WA, Boerkoel CF. | Genet Med | 2014 Oct | 24784157 | |
| Early-onset stroke and vasculopathy associated with mutations in ADA2. | Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, et al. | N Engl J Med | 2014 Mar 6 | 24552284 | |
| Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. | Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. | J Immunol | 2014 Mar 15 | 24510966 | |
| Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy. | Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. | Nat Commun | 24504326 | ||
| iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls. | Prilutsky, Daria; Palmer, Nathan P; Smedemark-Margulies, Niklas; Schlaeger, Thorsten M; Margulies, David M; Kohane, Isaac S | Trends in molecular medicine | 2014 Feb | 91-104 | 24374161 |
| Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. | Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, et al. | Hum Mol Genet | 2014 Jan 15 | 24006476 | |
| Idiopathic basal ganglia calcifications: an atypical presentation of PKAN. | Wu YW, Hess CP, Singhal NS, Groden C, Toro C. | Pediatr Neurol | 2013 Nov | 23968566 | |
| The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. | Shashi, Vandana; McConkie-Rosell, Allyn; Rosell, Bruce; Schoch, Kelly; Vellore, Kasturi; McDonald, Marie; Jiang, Yong-Hui; Xie, Pingxing; Need, Anna; Goldstein, David B; Goldstein, David G | Genetics in medicine : official journal of the American College of Medical Genetics. | 2014 Feb; | 23928913 | |
| Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. | Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; et al. | Hum Mutat | 2013 Oct | 23857908 | |
| Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. | Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. | Front Med | 2013 Sep | 23856975 | |
| A congenital neutrophil defect syndrome associated with mutations in VPS45. | Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, et al. | N Engl J Med | 2013 Jul 4 | 23738510 | |
| Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. | Brady J, Trehan A, Landis D, Toro C. | BMJ Case Rep | 2013 May 8 | 23661660 | |
| Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. | Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, et al. | Hum Mutat | 2013 Aug | 23649844 | |
| Chronic myopathy due to immunoglobulin light chain amyloidosis. | Manoli I, Kwan JY, Wang Q, Rushing EJ, Tsokos M, Arai AE, Burch WM, Dispenzieri A, McPherron AC, Gahl WA. | Mol Genet Metab | 2013 Apr | 23465863 | |
| Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). | Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. | Neuromuscul Disord | 2013 Jun | 23453856 | |
| Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. | Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos RF, Menghrajani K, Ahaghotu C, Sutherland DP, Fortuno ES 3rd, Kollmann TR, Demos M, Friedman JM, Speert DP, Gahl WA, Boerkoel CF. | Eur J Hum Genet | 2013 Nov | 23443029 | |
| Kearns-Sayre syndrome presenting as isolated growth failure. | Holloman CM, Wolfe LA, Gahl WA, Boerkoel CF. | BMJ Case Rep | 2013 Feb 18 | 23420719 | |
| 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. | Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R, Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, Gahl WA. | Clin J Am Soc Nephrol | 2013 Apr | 23293122 |