Program Publications
Program Publications
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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.
| Title | Authors | Journal | PubMedID | Publication Date |
|---|---|---|---|---|
| Synthetic Assembly DNA Cloning to Build Plasmids for Multiplexed Transgenic Selection, Counterselection or Any Other Genetic Strategies Using Drosophila melanogaster. | Venken, Koen J T; Matinyan, Nick; Gonzalez, Yezabel; Sarrion-Perdigones, Alejandro; Dierick, Herman A | Current protocols | 36757602 | 2023 Feb |
| Serial Recombineering Cloning to Build Selectable and Tagged Genomic P[acman] BAC Clones for Selection Transgenesis and Functional Gene Analysis using Drosophila melanogaster. | Venken, Koen J T; Matinyan, Nick; Gonzalez, Yezabel; Dierick, Herman A | Current protocols | 36757632 | 2023 Feb |
| A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. | Spillmann, Rebecca C; Tan, Queenie K-G; Reuter, Chloe; Schoch, Kelly; Undiagnosed Diseases Network; Kohler, Jennefer; Bonner, Devon; Zastrow, Diane; Alkelai, Anna; Baugh, Evan; Cope, Heidi; Marwaha, Shruti; Wheeler, Matthew T; Bernstein, Jonathan A; Shashi, Vandana; Undiagnosed Diseases Network | Genetics in medicine : official journal of the American College of Medical Genetics | 36481303 | 2023 Apr |
| A Case Study of Dysfunctional Nicotinamide Metabolism in a 20-Year-Old Male. | DeBalsi, Karen L; Newman, John H; Sommerville, Laura J; Phillips 3rd, John A; Hamid, Rizwan; Cogan, Joy; Fessel, Joshua P; Evans, Anne M; Undiagnosed Diseases Network; Undiagnosed Diseases Network; Kennedy, Adam D | Metabolites | 36984839 | 2023 Mar 08 |
| A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome. | Lino Cardenas, Christian Lacks; Briere, Lauren C; Sweetser, David A; Lindsay, Mark E; Musolino, Patricia L | The Journal of clinical investigation | 36649075 | 2023 Mar 01 |
| GABRG2 Variants Associated with Febrile Seizures. | Hernandez, Ciria C; Shen, Yanwen; Hu, Ningning; Shen, Wangzhen; Narayanan, Vinodh; Ramsey, Keri; He, Wen; Zou, Liping; Macdonald, Robert L | Biomolecules | 36979350 | 2023 Feb 22 |
| Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. | Chong, Shuk Ching; Cao, Ye; Fung, Eva L W; Kleppe, Soledad; Gripp, Karen W; Hertecant, Jozef; El-Hattab, Ayman W; Suleiman, Jehan; Clark, Gary; von Allmen, Gretchen; Rodziyevska, Olga; Lewis, Richard A; Rosenfeld, Jill A; Dong, Jie; Undiagnosed Diseases Network; Wang, Xia; Miller, Marcus J; Bi, Weimin; Liu, Pengfei; Scaglia, Fernando | American journal of medical genetics. Part A | 36537114 | 2023 Mar |
| Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; Rosenthal, Elisabeth A; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Timms, Andrew; Wener, Mark; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad, Michael J; Hisama, Fuki M; Jarvik, Gail P; Dipple, Katrina M; Hediger, Matthias A; Stergachis, Andrew B | Annals of clinical and translational neurology | 37194416 | 2023 Jun |
| Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome. | Xing, Zhuo; Li, Yichen; Cortes-Gomez, Eduardo; Jiang, Xiaoling; Gao, Shuang; Pao, Annie; Shan, Jidong; Song, Yinghui; Perez, Amanda; Yu, Tao; Highsmith, Max R; Boadu, Frimpong; Conroy, Jeffrey M; Singh, Prashant K; Bakin, Andrei V; Cheng, Jianlin; Duan, Zhijun; Wang, Jianmin; Liu, Song; Tycko, Benjamin; Yu, Y Eugene | Human molecular genetics | 37014740 | 2023 Jun 19 |
| NKCC1 in human diseases: is the SLC12A2 gene haploinsufficient? | Delpire, Eric; Koumangoye, Rainelli | American journal of physiology. Cell physiology | 37399495 | 2023 Jul 03 |
| Drosophila as a diet discovery tool for treating amino acid disorders. | Mele, Sarah; Martelli, Felipe; Lin, Jiayi; Kanca, Oguz; Christodoulou, John; Bellen, Hugo J; Piper, Matthew D W; Johnson, Travis K | Trends in endocrinology and metabolism: TEM | 36567227 | 2023 Feb |
| Exome/Genome Sequencing in Undiagnosed Syndromes. | Sullivan, Jennifer A; Schoch, Kelly; Spillmann, Rebecca C; Shashi, Vandana | Annual review of medicine | 36706750 | 2023 Jan 27 |
| RNA Sequencing as a Diagnostic Tool. | Ketkar, Shamika; Burrage, Lindsay C; Lee, Brendan | JAMA | 36525251 | 2023 Jan 03 |
| SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. | Srivastava, Siddharth; Shaked, Hagar Mor; Gable, Kenneth; Gupta, Sita D; Pan, Xueyang; Somashekarappa, Niranjanakumari; Han, Gongshe; Mohassel, Payam; Gotkine, Marc; Doney, Elizabeth; Goldenberg, Paula; Tan, Queenie K G; Gong, Yi; Kleinstiver, Benjamin; Wishart, Brian; Cope, Heidi; Pires, Claudia Brito; Stutzman, Hannah; Spillmann, Rebecca C; Undiagnosed Disease Network; Sadjadi, Reza; Elpeleg, Orly; Lee, Chia-Hsueh; Bellen, Hugo J; Edvardson, Simon; Eichler, Florian; Dunn, Teresa M | Brain : a journal of neurology | 36718090 | 2023 Apr 19 |
| Autolysosomal exocytosis of lipids protect neurons from ferroptosis. | Ralhan, Isha; Chang, Jinlan; Moulton, Matthew J; Goodman, Lindsey D; Lee, Nathanael Y J; Plummer, Greg; Pasolli, H Amalia; Matthies, Doreen; Bellen, Hugo J; Ioannou, Maria S | The Journal of cell biology | 37036445 | 2023 Jun 05 |
| Bi-allelic variants in INTS11 are associated with a complex neurological disorder. | Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Undiagnosed Diseases Network; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J | American journal of human genetics | 37054711 | 2023 May 04 |
| Participation in a national diagnostic research study: assessing the patient experience. | Rosenfeld, Lindsay E; LeBlanc, Kimberly; Nagy, Anna; Ego, Braeden K; Undiagnosed Diseases Network; McCray, Alexa T | Orphanet journal of rare diseases | 37032333 | 2023 Apr 10 |
| 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 | 36574677 | 2023 Jan 03 |
| A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster. | Jangam, Sharayu; Briere, Lauren C; Jay, Kristy; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Undiagnosed Diseases Network; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael | medRxiv : the preprint server for health sciences | 36778246 | 2023 Feb 03 |
| Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases. | Wang, Rui-Sheng; Maron, Bradley A; Loscalzo, Joseph | Arteriosclerosis, thrombosis, and vascular biology | 36794589 | 2023 Apr |
| Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. | AlAbdi, Lama; Desbois, Muriel; Rusnac, Domniţa-Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Undiagnosed Diseases Network; Billie Au, Ping Yee; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A; Christensen, Elyse L; Opperman, Karla J; Giles, Andrew C; Helaby, Rana; Kania, Artur; Zheng, Ning; Grill, Brock; Alkuraya, Fowzan S | Brain : a journal of neurology | 36200388 | 2023 Apr 19 |
| Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. | Halley, Meghan C; Young, Jennifer L; Tang, Charis; Mintz, Kevin T; Lucas-Griffin, Sawyer; Maghiro, AudreyStephannie; Ashley, Euan A; Tabor, Holly K; Undiagnosed Diseases Network | The Journal of pediatrics | 37271495 | 2023 Jun 02 |
| De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. | Andrews, Jonathan C; Mok, Jung-Wan; Kanca, Oguz; Jangam, Sharayu; Tifft, Cynthia; Macnamara, Ellen F; Russell, Bianca E; Wang, Lee-Kai; Undiagnosed Diseases Network; Nelson, Stanley F; Bellen, Hugo J; Yamamoto, Shinya; Malicdan, May Christine V; Wangler, Michael F | Genetics in medicine : official journal of the American College of Medical Genetics | 37013900 | 2023 Jun |
| Spastin is an essential regulator of male meiosis, acrosome formation, manchette structure and nuclear integrity. | Cheers, Samuel R; O'Connor, Anne E; Johnson, Travis K; Merriner, D Jo; O'Bryan, Moira K; Dunleavy, Jessica E M | Development (Cambridge, England) | 36971361 | 2023 Mar 15 |
| Polygenic Contributions to Chronic Overlapping Pain Conditions in a Large Electronic Health Record Sample. | Schirle, Lori; Samuels, David C; Faucon, Annika; Cox, Nancy J; Bruehl, Stephen | The journal of pain | 36736868 | 2023 Jun |
| Assessment of community efforts to advance network-based prediction of protein-protein interactions. | Wang, Xu-Wen; Madeddu, Lorenzo; Spirohn, Kerstin; Martini, Leonardo; Fazzone, Adriano; Becchetti, Luca; Wytock, Thomas P; Kovács, István A; Balogh, Olivér M; Benczik, Bettina; Pétervári, Mátyás; Ágg, Bence; Ferdinandy, Péter; Vulliard, Loan; Menche, Jörg; Colonnese, Stefania; Petti, Manuela; Scarano, Gaetano; Cuomo, Francesca; Hao, Tong; Laval, Florent; Willems, Luc; Twizere, Jean-Claude; Vidal, Marc; Calderwood, Michael A; Petrillo, Enrico; Barabási, Albert-László; Silverman, Edwin K; Loscalzo, Joseph; Velardi, Paola; Liu, Yang-Yu | Nature communications | 36949045 | 2023 Mar 22 |
| Repurposing Drugs for the Treatment of COVID-19 and Its Cardiovascular Manifestations. | Wang, Rui-Sheng; Loscalzo, Joseph | Circulation research | 37167362 | 2023 May 12 |
| Rare Disease, Advocacy and Justice: Intersecting Disparities in Research and Clinical Care. | Halley, Meghan C; Halverson, Colin M E; Tabor, Holly K; Goldenberg, Aaron J | The American journal of bioethics : AJOB | 37204146 | 2023 Jul |
| 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 | 35913761 | 2023 Jan 01 |
| The contribution of mosaicism to genetic diseases and de novo pathogenic variants. | Tinker, Rory J; Bastarache, Lisa; Ezell, Kimberly; Kobren, Shilpa Nadimpalli; Esteves, Cecilia; Rosenfeld, Jill A; Macnamara, Ellen F; Hamid, Rizwan; Cogan, Joy D; Rinker, David; Mukharjee, Souhrid; Glass, Ian; Dipple, Katrina; Phillips 3rd, John A; Undiagnosed Diseases Network | American journal of medical genetics. Part A | 37246601 | 2023 May 29 |
| H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. | Borja, Nicholas; Borjas-Mendoza, Paulo; Bivona, Stephanie; Peart, LéShon; Gonzalez, Joanna; Johnson, Brittney Keira; Guo, Shengru; Yusupov, Roman; Undiagnosed Diseases Network; Bademci, Guney; Tekin, Mustafa | American journal of medical genetics. Part A | 36987712 | 2023 Jul |
| Very-long-chain fatty acids induce glial-derived sphingosine-1-phosphate synthesis, secretion, and neuroinflammation. | Chung, Hyung-Lok; Ye, Qi; Park, Ye-Jin; Zuo, Zhongyuan; Mok, Jung-Wan; Kanca, Oguz; Tattikota, Sudhir Gopal; Lu, Shenzhao; Perrimon, Nobert; Lee, Hyun Kyoung; Bellen, Hugo J | Cell metabolism | 37084732 | 2023 May 02 |
| Adhesion G protein-coupled receptors: structure, signaling, physiology, and pathophysiology. | Lala, Trisha; Hall, Randy A | Physiological reviews | 35468004 | 2022 Oct 01 |
| 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 | 34374469 | 2022 04 |
| 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 | 35848209 | 2022 Sep |
| 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 | 36317458 | 2022 Dec |
| 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 | 35924558 | 2022 Sep |
| 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 | 35194938 | 2022 Jun |
| 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 | 35934918 | 2022 Dec |
| Supporting undiagnosed participants when clinical genomics studies end. | Halley, Meghan C; Ashley, Euan A; Tabor, Holly K | Nature genetics | 35902745 | 2022 Aug |
| 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.) | 35821491 | 2022 |
| 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 | 35405010 | 2022 Aug 25 |
| Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. | 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; Rady Children's Institute for Genomic Medicine; 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 | 35737950 | 2022 Oct 21 |
| 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 | 35482014 | 2022 Jul |
| The role of glutathione peroxidase-1 in health and disease. | Handy, Diane E; Loscalzo, Joseph | Free radical biology & medicine | 35691509 | 2022 Aug 01 |
| 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 | 35587600 | 2022 Aug 18 |
| 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 | 35084988 | 2022 Jan 27 |
| 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 | 35361529 | 2022 May |
| 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 | 35256804 | 2022 Mar |
| 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 | 35224820 | 2022 Jun |
| 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 | 35723254 | 2022 Jun 20 |
| 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 | 36125045 | 2022 Sep 01 |
| 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.) | 35821490 | 2022 |
| 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 | 35044823 | 2022 Jan 21 |
| 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 | 35032048 | 2022 Mar |
| 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 | 35362483 | 2022 Apr 01 |
| 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 | 35687855 | 2022 Aug 03 |
| 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 | 35621276 | 2022 Sep |
| 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 | 35868845 | 2022 Oct |
| 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 | 35234901 | 2022 Sep 29 |
| 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 | 34767620 | 2022 02 17 |
| 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 | 35671065 | 2022 Aug |
| 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 | 35247231 | 2022 Apr |
| 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 | 35044814 | 2022 Jan 21 |
| 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 | 35396900 | 2022 Jul |
| 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 | 35051358 | 2022 Feb 03 |
| 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 | 35108495 | 2022 Mar 03 |
| 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 | 35843734 | 2022 Sep 15 |
| 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 | 36043417 | 2022 Sep 16 |
| 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 | 34115423 | 2022 Feb |
| 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 | 35217565 | 2022 Feb |
| 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 | 36072659 | 2022 |
| Beyond Race: A Wake-up Call for Drug Therapy Informed by Genotyping. | Sirugo, Giorgio; Wonkam, Ambroise | Annals of internal medicine | 35724383 | 2022 Aug |
| 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 | 34788397 | 2022 Jun 03 |
| 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 | 35121658 | 2022 Feb 08 |
| 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 | 35139074 | 2022 Feb |
| 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 | 35973608 | 2022 Oct 15 |
| 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 | 35443763 | 2022 Apr 20 |
| 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 | 36205747 | 2022 Oct |
| 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 | 34981646 | 2022 Apr |
| 'Fly-ing' from rare to common neurodegenerative disease mechanisms. | Ma, Mengqi; Moulton, Matthew J; Lu, Shenzhao; Bellen, Hugo J | Trends in genetics : TIG | 35484057 | 2022 Sep |
| Drosophila as a Model for Infectious Diseases. | Harnish, J Michael; Link, Nichole; Yamamoto, Shinya | International journal of molecular sciences | 33800390 | 2021 Mar 08 |
| 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 | 33970744 | 2021 Mar-Jun |
| 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 | 34009343 | 2021 07 30 |
| Patients as Partners in Rare Disease Diagnosis and Research. | McCray, Alexa T; LeBlanc, Kimberly; Undiagnosed Diseases Network | The Yale journal of biology and medicine | 34970107 | 2021 Dec |
| 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 | 33508234 | 2021 02 04 |
| 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 M; Stong, Nicholas; Keren, Boris; Mignot, Cyril; Ravelli, Claudia; Undiagnosed Diseases Network; Bellen, Hugo J; Wangler, Michael F; Shashi, Vandana; Yamamoto, Shinya | Human molecular genetics | 33864376 | 2021 Jun 26 |
| 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 | 33580225 | 2021 06 |
| 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 | 34529933 | 2021 Oct 07 |
| 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 | 33350591 | 2021 01 |
| 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; Cooper, Cynthia; Rogers, Cassandra A; Callahan, Christine J; Ishimura, Ryosuke; Ichimura, Yoshinobu; Caruso, Paul A; Sharma, Nutan; Brokamp, Elly; Koziura, Mary E; Mohammad, Shekeeb S; Dale, Russell C; Riley, Lisa G; Undiagnosed Diseases Network; Phillips, John A; Komatsu, Masaaki; Sweetser, David A | Cold Spring Harbor molecular case studies | 33811063 | 2021 06 |
| Immunometabolic Endothelial Phenotypes: Integrating Inflammation and Glucose Metabolism. | Xiao, Wusheng; Oldham, William M; Priolo, Carmen; Pandey, Arvind K; Loscalzo, Joseph | Circulation research | 33890812 | 2021 06 25 |
| 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 | 34185323 | 2021 08 |
| 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 | 34775044 | 2021 Dec 15 |
| 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 | 33833410 | 2021 08 |
| 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 | 33771552 | 2021 08 |
| 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 | 33191058 | 2021 05 |
| 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 | 33724412 | 2021 02 09 |
| 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 | 34314705 | 2021 Sep 02 |
| Diverse genetic causes of polymicrogyria with epilepsy. | Epilepsy Phenome/Genome Project, Epi4K Consortium | Epilepsia | 33818783 | 2021 Apr |
| 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 | 34211179 | 2021 07 |
| 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 | 33239752 | 2021 04 |
| 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 | 33949769 | 2021 08 |
| 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 | 34450031 | 2021 09 02 |
| 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 | 33189025 | 2021 01 |
| 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 | 33093671 | 2021 02 |
| 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 | 33664507 | 2021 03 |
| "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 | 34096130 | 2021 Dec |
| 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 | 33962631 | 2021 05 07 |
| 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 | 34525356 | 2021 09 14 |
| 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 | 33861989 | 2021 06 08 |
| 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 | 33971915 | 2021 05 10 |
| 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 | 33558758 | 2021 03 |
| 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 | 34113007 | 2021 10 |
| 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 | 33963760 | 2021 08 |
| 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 | 33517678 | 2021 02 |
| 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 | 34282302 | 2021 12 |
| The quagmire of race, genetic ancestry, and health disparities. | Sirugo, Giorgio; Tishkoff, Sarah A; Williams, Scott M | The Journal of clinical investigation | 34060479 | 2021 06 01 |
| 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 | 33278053 | 2021 02 |
| 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 | 34723967 | 2021 11 |
| 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 | 32901138 | 2021 02 |
| 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 | 33420705 | 2021 06 |
| 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 | 33955715 | 2021 07 |
| 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 | 34042254 | 2021 08 |
| 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 | 34163037 | 2021 10 |
| 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 | 33558530 | 2021 Feb 08 |
| 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 | 34426982 | 2021 Oct |
| 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 | 34587765 | 2021 Nov 16 |
| 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 | 33001864 | 2021 01 04 |
| 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 | 33577149 | 2021 Mar 04 |
| 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) | 33761277 | 2021 04 |
| 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 | 33883556 | 2021 Apr 21 |
| 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 | 34412939 | 2021 |
| 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 | 33108040 | 2021 04 |
| 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 | 33630084 | 2021 02 01 |
| 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 | 33915225 | 2021 07 |
| 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 | 34016036 | 2021 May 20 |
| 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 | 33944996 | 2021 Jul |
| 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 | 33523764 | 2021 06 15 |
| 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 | 33856918 | 2021 04 16 |
| 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 | 33906951 | 2021 05 11 |
| 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 | 34636650 | 2021 Nov 16 |
| 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 | 33438828 | 2021 04 |
| 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 | 34291734 | 2021 07 22 |
| 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 | 34702355 | 2021 10 26 |
| 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 | 33184947 | 2021 02 |
| 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 | 33288881 | 2021 Oct |
| 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 | 32539183 | 2020 06 |
| 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 | 31691385 | 2020 02 |
| 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 | 32730690 | 2020 10 |
| 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 | 31723249 | 2020 03 |
| 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 | 31301294 | 2020 02 |
| Network Medicine Framework for Identifying Drug Repurposing Opportunities for COVID-19. | Gysi, Deisy Morselli; Valle, Ítalo Do; Zitnik, Marinka; Ameli, Asher; Gan, Xiao; Varol, Onur; Ghiassian, Susan Dina; Patten, J J; Davey, Robert; Loscalzo, Joseph; Barabási, Albert-László | ArXiv | 32550253 | 2020 Apr 15 |
| Network determinants of cardiovascular calcification and repositioned drug treatments. | Song, Euijun; Wang, Rui-Sheng; Leopold, Jane A; Loscalzo, Joseph | FASEB journal : official publication of the Federation of American Societies for Experimental Biology | 32638415 | 2020 Aug |
| 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 | 32693025 | 2020 08 06 |
| 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 | 31607746 | 2020 03 |
| 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 | 31273346 | 2020 01 |
| 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 | 32083401 | 2020 05 |
| Diversity, inclusion and equity in medical genetics: The time is now. | Quintero-Rivera, Fabiola; Hisama, Fuki M | American journal of medical genetics. Part A | 33010189 | 2020 12 |
| 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 | 32197074 | 2020 04 02 |
| Post-Developmental Roles of Notch Signaling in the Nervous System. | Salazar, Jose L; Yang, Sheng-An; Yamamoto, Shinya | Biomolecules | 32630239 | 2020 07 01 |
| 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 | 33232675 | 2020 12 03 |
| 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 | 32539239 | 2020 06 |
| 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 | 32461240 | 2020 06 03 |
| 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 | 31655271 | 2020 |
| 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 | 32039487 | 2020 10 |
| 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 | 32761064 | 2020 08 01 |
| 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 | 31895052 | 2020 Jan 02 |
| 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; Taşan, 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 | 32296183 | 2020 04 |
| 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 | 32307915 | 2020 11 |
| 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 | 33058507 | 2020 11 |
| 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 | 33150406 | 2020 12 05 |
| 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 | 33144514 | 2020 12 15 |
| 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 | 32330417 | 2020 05 07 |
| 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 | 31696996 | 2020 03 |
| 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 | 31820119 | 2020 03 |
| 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 | 32356556 | 2020 06 03 |
| 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 | 33104717 | 2020 Oct |
| 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 | 32057305 | 2020 |
| 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 | 31949314 | 2020 05 |
| 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 | 32190976 | 2020 06 |
| 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 | 33027505 | 2020 10 01 |
| 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 | 32197067 | 2020 04 20 |
| The frontiers of sequencing in undiagnosed neurodevelopmental diseases. | Lee, Hane; Nelson, Stanley F | Current opinion in genetics & development | 32599523 | 2020 12 |
| 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 | 32207811 | 2020 06 01 |
| 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 | 32077592 | 2020 05 |
| 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 | 31742994 | 2020 01 21 |
| 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 | 32169171 | 2020 05 20 |
| 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 | 32367058 | 2020 05 |
| Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β 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 | 31443933 | 2020 01 15 |
| Histopathologic assessment of cultured human thymus. | Hale, Laura P; Neff, Jadee; Cheatham, Lynn; Cardona, Diana; Markert, M Louise; Kurtzberg, Joanne | PloS one | 32208448 | 2020 |
| 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 | 32366967 | 2020 07 |
| 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 | 32404617 | 2020 06 |
| 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 | 32588908 | 2020 Nov |
| 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 | 32396938 | 2020 Jul 30 |
| 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 | 33046794 | 2020 10 12 |
| 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 | 32681751 | 2020 11 |
| The Expanding Role of Genetics in Cerebral Palsy. | Emrick, Lisa T; DiCarlo, Shannon M | Physical medicine and rehabilitation clinics of North America | 31760988 | 2020 02 |
| 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 | 33217309 | 2020 12 03 |
| Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk. | Bowen, Deborah J; Hyams, Travis; Laurino, Mercy; Woolley, Timothy; Cohen, Stacey; Leppig, Kathleen A; Jarvik, Gail | Journal of cancer education : the official journal of the American Association for Cancer Education | 30737640 | 2020 Jun |
| Making sense out of missense mutations: Mechanistic dissection of Notch receptors through structure-function studies in Drosophila. | Yamamoto, Shinya | Development, growth & differentiation | 31943162 | 2020 Jan |
| 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 | 32152089 | 2020 May 26 |
| 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 | 32778826 | 2020 09 |
| Metabolic Responses to Reductive Stress. | Xiao, Wusheng; Loscalzo, Joseph | Antioxidants & redox signaling | 31218894 | 2020 06 |
| 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 | 32037607 | 2020 Jun |
| Disseminated Coccidioidomycosis Treated with Interferon-γ 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 | 32521134 | 2020 06 11 |
| 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 | 33224153 | 2020 |
| 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 | 32567507 | 2020 07 01 |
| 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 | 31949312 | 2020 05 |
| 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 | 31792382 | 2019 12 |
| 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 | 30680851 | 2019 04 |
| 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 | 31615419 | 2019 Oct 15 |
| 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 and Uveitis Subcommittee of the Childhood Arthritis Rheumatology and Research Alliance | Arthritis care & research | 29806733 | 2019 04 |
| 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 | 30514889 | 2019 07 |
| 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 | 30679821 | 2019 08 |
| 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 | 30706981 | 2019 04 |
| 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 | 30920161 | 2019 06 |
| 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 | 31478310 | 2019 12 |
| 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) | 30169785 | 2019 04 01 |
| 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 | 30903737 | 2019 06 |
| 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 | 31439813 | 2019 Oct |
| Drug-Placebo Additivity in Randomized Clinical Trials. | Hall, Kathryn T; Loscalzo, Joseph | Clinical pharmacology and therapeutics | 31502253 | 2019 12 |
| 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 | 30817854 | 2019 07 |
| 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 | 31112421 | 2019 05 |
| 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 | 31160820 | 2019 06 |
| 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 | 30568308 | 2019 07 |
| 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 | 30580808 | 2019 01 03 |
| 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, Matthew T | Journal of genetic counseling | 30964584 | 2019 04 |
| 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 | 31020813 | 2019 06 |
| 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 | 30913273 | 2019 |
| 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 | 30476213 | 2019 01 08 |
| 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 | 31751545 | 2019 11 20 |
| 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 | 31524990 | 2019 09 |
| 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 | 31616000 | 2019 10 15 |
| 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 | 29307858 | 2019 Jan |
| 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 | 31034808 | 2019 08 |
| 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 | 31296586 | 2019 12 |
| 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 | 30610177 | 2019 01 22 |
| 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 | 30940688 | 2019 May |
| 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 | 31264822 | 2019 08 |
| 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 | 31000001 | 2019 04 23 |
| 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 | 31585109 | 2019 10 03 |
| 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 | 30842647 | 2019 09 |
| Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. | Hall, Taryn O; Stanaway, Ian B; Carrell, David S; Carroll, Robert J; Denny, Joshua C; Hakonarson, Hakon; Larson, Eric B; Mentch, Frank D; Peissig, Peggy L; Pendergrass, Sarah A; Rosenthal, Elisabeth A; Jarvik, Gail P; Crosslin, David R | Genes and immunity | 30459343 | 2019 Sep |
| 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 | 31400517 | 2019 09 |
| 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 | 30287385 | 2019 02 |
| 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 | 31707536 | 2019 12 |
| 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 | 31448412 | 2019 12 |
| Fine-Tuning of PGC1α 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 | 31412728 | 2019 09 13 |
| 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 | 30773277 | 2019 03 07 |
| 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 | 30740830 | 2019 05 |
| 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 | 31735666 | 2019 12 16 |
| 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 | 30824715 | 2019 03 01 |
| 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 | 30827497 | 2019 03 07 |
| 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 | 30682224 | 2019 03 |
| Epigenetic Inheritance Underlying Pulmonary Arterial Hypertension. | Napoli, Claudio; Benincasa, Giuditta; Loscalzo, Joseph | Arteriosclerosis, thrombosis, and vascular biology | 30727752 | 2019 04 |
| Network Medicine in Pathobiology. | Lee, Laurel Yong-Hwa; Loscalzo, Joseph | The American journal of pathology | 31014954 | 2019 07 |
| 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 | 30569621 | 2019 03 |
| 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 | 30887439 | 2019 06 |
| 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 | 30287922 | 2019 05 |
| 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 | 31317629 | 2019 12 |
| 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 | 30865516 | 2019 04 01 |
| 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 | 31475990 | 2019 08 15 |
| 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 | 31498321 | 2019 Aug 20 |
| 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 | 31665645 | 2019 10 29 |
| 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 | 2019 01 |
| Precision Medicine. | Loscalzo, Joseph | Circulation research | 30920923 | 2019 03 29 |
| 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 | 31557306 | 2019 12 |
| 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 | 29267967 | 2018 02 15 |
| 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 | 29435140 | 2018 Jan 12 |
| 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 | 2018 Mar 20 |
| A highly parallel strategy for storage of digital information in living cells. | Akhmetov, Azat; Ellington, Andrew D; Marcotte, Edward M | BMC biotechnology | 30333005 | 2018 Oct 17 |
| 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 | 29331327 | 2018 May |
| 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 | 29497923 | 2018 09 |
| 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 | 30009200 | 2018 Jul |
| 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 | 30304647 | 2018 11 29 |
| 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 | 29341437 | 2018 05 |
| 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 | 29388319 | 2018 03 |
| Rapid resolution of hyperammonemia in neonates using extracorporeal membrane oxygenation as a platform to drive hemodialysis. | Robinson, Jamie R; Conroy, Patricia C; Hardison, Daphne; Hamid, Rizwan; Grubb, Peter H; Pietsch, John B; Lovvorn 3rd, Harold N | Journal of perinatology : official journal of the California Perinatal Association | 29467521 | 2018 Jun |
| 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 | 30131872 | 2018 |
| 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 | 2018 09 |
| 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 | 30258175 | 2018 10 |
| 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 | 30057031 | 2018 08 02 |
| 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 | 29330883 | 2018 May |
| 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 | 29478781 | 2018 03 01 |
| 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 | 29691392 | 2018 04 24 |
| 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 | 30503518 | 2018 12 06 |
| 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 | 28914269 | 2018 04 |
| 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 | 29655802 | 2018 Oct |
| DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice. | Khan, Mohammad Moshahid; Xiao, Jianfeng; Patel, Damini; LeDoux, Mark S | Neurobiology of aging | 29154038 | 2018 02 |
| 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; Fauni, Harper B; 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 | 29300972 | 2018 02 15 |
| 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 | 30341158 | 2018 11 20 |
| 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 | 30561330 | 2018 12 18 |
| Adhesion G Protein-Coupled Receptors as Drug Targets. | Purcell, Ryan H; Hall, Randy A | Annual review of pharmacology and toxicology | 28968187 | 2018 01 06 |
| 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 | 28945957 | 2018 01 |
| 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 | 29361909 | 2018 01 23 |
| 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 | 29121773 | 2018 Oct 01 |
| 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 | 29549620 | 2018 Sep |
| 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 | 29726930 | 2018 Jul 15 |
| Unweaving the role of nuclear Lamins in neural circuit integrity. | Deal, Samantha L; Yamamoto, Shinya | Cell stress | 31223139 | 2018 Sep 10 |
| 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 | 29718741 | 2018 Mar - Jun |
| 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; Rudzińska-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 | 2018 May 16 |
| 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 | 30134969 | 2018 Aug 22 |
| 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 | 30193138 | 2018 Sep 06 |
| 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 | 29297108 | 2018 08 |
| Cardiovascular Precision Medicine in the Genomics Era. | Dainis, Alexandra M; Ashley, Euan A | JACC. Basic to translational science | 30062216 | 2018 Apr |
| 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 | 29469822 | 2018 10 |
| 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 | 29805043 | 2018 06 07 |
| Very early-onset inflammatory bowel disease: an integrated approach. | Sullivan, Kathleen E; Conrad, Maire; Kelsen, Judith R | Current opinion in allergy and clinical immunology | 30299395 | 2018 12 |
| Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings. | Christensen, Kurt D; Bernhardt, Barbara A; Jarvik, Gail P; Hindorff, Lucia A; Ou, Jeffrey; Biswas, Sawona; Powell, Bradford C; Grundmeier, Robert W; Machini, Kalotina; Karavite, Dean J; Pennington, Jeffrey W; Krantz, Ian D; Berg, Jonathan S; Goddard, Katrina A B | Genetics in medicine : official journal of the American College of Medical Genetics | 29388940 | 2018 Oct |
| Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium. | Amendola, Laura M; Robinson, Jill O; Hart, Ragan; Biswas, Sawona; Lee, Kaitlyn; Bernhardt, Barbara A; East, Kelly; Gilmore, Marian J; Kauffman, Tia L; Lewis, Katie L; Roche, Myra; Scollon, Sarah; Wynn, Julia; Blout, Carrie | Journal of genetic counseling | 29497922 | 2018 Sep |
| The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. | Amendola, Laura M; Berg, Jonathan S; Horowitz, Carol R; Angelo, Frank; Bensen, Jeannette T; Biesecker, Barbara B; Biesecker, Leslie G; Cooper, Gregory M; East, Kelly; Filipski, Kelly; Fullerton, Stephanie M; Gelb, Bruce D; Goddard, Katrina A B; Hailu, Benyam; Hart, Ragan; Hassmiller-Lich, Kristen; Joseph, Galen; Kenny, Eimear E; Koenig, Barbara A; Knight, Sara; Kwok, Pui-Yan; Lewis, Katie L; McGuire, Amy L; Norton, Mary E; Ou, Jeffrey; Parsons, Donald W; Powell, Bradford C; Risch, Neil; Robinson, Mimsie; Rini, Christine; Scollon, Sarah; Slavotinek, Anne M; Veenstra, David L; Wasserstein, Melissa P; Wilfond, Benjamin S; Hindorff, Lucia A; CSER consortium; Plon, Sharon E; Jarvik, Gail P | American journal of human genetics | 30193136 | 2018 Sep 06 |
| Integration of Drosophila and Human Genetics to Understand Notch Signaling Related Diseases. | Salazar, Jose L; Yamamoto, Shinya | Advances in experimental medicine and biology | 30030826 | 2018 |
| 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 | 30550790 | 2018 12 13 |
| 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 | 30627328 | 2018 Dec 07 |
| Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells. | Koumangoye, Rainelli; Omer, Salma; Delpire, Eric | American journal of physiology. Cell physiology | 29719172 | 2018 08 01 |
| Water Homeostasis and Cell Volume Maintenance and Regulation. | Delpire, Eric; Gagnon, Kenneth B | Current topics in membranes | 30243436 | 2018 |
| 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 | 30124668 | 2018 Aug 03 |
| 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 | 29972786 | 2018 07 03 |
| 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 | 29679388 | 2018 06 |
| 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 | 29738522 | 2018 05 |
| 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 | 29970384 | 2018 10 |
| 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 | 29437835 | 2018 Mar 16 |
| Emerging Role of Precision Medicine in Cardiovascular Disease. | Leopold, Jane A; Loscalzo, Joseph | Circulation research | 29700074 | 2018 Apr 27 |
| 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 | 30002366 | 2018 07 12 |
| 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 | 30336831 | 2018 Oct 23 |
| 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 | 30031689 | 2018 09 |
| Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment. | Weymann, Deirdre; Veenstra, David L; Jarvik, Gail P; Regier, Dean A | European journal of human genetics : EJHG | 29802320 | 2018 Sep |
| Rare loss of function variants in candidate genes and risk of colorectal cancer. | Rosenthal, Elisabeth A; Shirts, Brian H; Amendola, Laura M; Horike-Pyne, Martha; Robertson, Peggy D; Hisama, Fuki M; Bennett, Robin L; Dorschner, Michael O; Nickerson, Deborah A; Stanaway, Ian B; Nassir, Rami; Vickers, Kathy T; Li, Christopher; Grady, William M; Peters, Ulrike; Jarvik, Gail P; NHLBI GO Exome Sequencing Project | Human genetics | 30267214 | 2018 Oct |
| Na+ -K+ -2Cl- Cotransporter (NKCC) Physiological Function in Nonpolarized Cells and Transporting Epithelia. | Delpire, Eric; Gagnon, Kenneth B | Comprehensive Physiology | 29687903 | 2018 03 25 |
| 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 | 30098009 | 2018 Sep |
| Genetic strategies to tackle neurological diseases in fruit flies. | Şentürk, Mümine; Bellen, Hugo J | Current opinion in neurobiology | 29128849 | 2018 06 |
| 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 | 30420557 | 2018 12 03 |
| Y Not? Sex Chromosomes May Modify Sexual Dimorphism in Pulmonary Hypertension. | Austin, Eric D; Hamid, Rizwan | American journal of respiratory and critical care medicine | 28968140 | 2018 04 01 |
| 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.) | 29590070 | 2018 03 16 |
| 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 | 29757677 | 2018 Oct |
| Network-Based Disease Module Discovery by a Novel Seed Connector Algorithm with Pathobiological Implications. | Wang, Rui-Sheng; Loscalzo, Joseph | Journal of molecular biology | 29791871 | 2018 09 14 |
| 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 | 30526868 | 2018 12 06 |
| Cardiovascular disease: The rise of the genetic risk score. | Knowles, Joshua W; Ashley, Euan A | PLoS medicine | 29601582 | 2018 03 |
| 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 | 30349862 | 2018 Oct |
| 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 | 29565247 | 2018 03 22 |
| 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, Ganka; Carvalho, Daniel R; Bratke, Heiko; Haug, Marte Gjøl; Phillips, Jennifer B; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren, Ann; Hammarsjö, Anna; Duker, Angela L; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zöe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M; Phillips 3rd, John A; Tiller, George E; Wilson, William G; Hamid, Rizwan; Malicdan, May C V; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B; Gahl, William A; Freeze, Hudson H | American journal of human genetics | 30290151 | 2018 10 04 |
| Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila. | Deal, Samantha L; Yamamoto, Shinya | Frontiers in genetics | 30693015 | 2018 |
| Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. | Oprescu, Stephanie N; Griffin, Laurie B; Beg, Asim A; Antonellis, Anthony | Methods (San Diego, Calif.) | 27876679 | 2017 01 15 |
| 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 | 28061364 | 2017 Jan 05 |
| 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 | 28123174 | 2017 Apr |
| 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 | 28132692 | 2017 Feb 02 |
| 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 | 28416019 | 2017 Apr 17 |
| 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 | 28017372 | 2017 Jan 05 |
| 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 | 28157539 | 2017 Feb 02 |
| 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, Paweł | Human genetics | 28251352 | 2017 Apr |
| 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 | 28502612 | 2017 Jun 01 |
| 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 | 28874452 | 2017 09 |
| 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 | 28512187 | 2017 Jul |
| Building dialogues between clinical and biomedical research through cross-species collaborations. | Chao, Hsiao-Tuan; Liu, Lucy; Bellen, Hugo J | Seminars in cell & developmental biology | 28579453 | 2017 10 |
| 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 | 28675565 | 2017 Oct |
| 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 | 28679296 | 2017 08 |
| 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 | 28661399 | 2017 Jun 29 |
| 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 | 28460589 | 2017 |
| 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 | 28822752 | 2017 Aug 23 |
| 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 | 28050602 | 2017 Jan |
| 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 | 28654958 | 2017 08 01 |
| 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 | 28288113 | 2017 Apr |
| 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 | 28807008 | 2017 Aug 14 |
| 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 | 28742085 | 2017 Jul |
| 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 | 28740134 | 2017 Jul 25 |
| 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 | 28431741 | 2017 May |
| 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 | 29186148 | 2017 Nov |
| Induced Pluripotent Stem Cells in Pulmonary Arterial Hypertension. | Hamid, Rizwan; Yan, Ling | American journal of respiratory and critical care medicine | 28362194 | 2017 Apr 01 |
| 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 | 28204942 | 2017 Mar |
| 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 | 28340351 | 2017 Mar 23 |
| 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 | Frontiers in medicine | 28603714 | 2017 |
| 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 | 29097652 | 2017 Nov 02 |
| 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 | 28596423 | 2017 06 08 |
| 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 | 28794409 | 2017 Aug 09 |
| 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 | 28797091 | 2017 |
| 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 | 28017794 | 2017 Apr 06 |
| 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 | 28712652 | 2017 Aug 02 |
| 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 | Human mutation | 28891236 | 2017 Dec |
| Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. | Orenstein, N; Weiss, K; Oprescu, S N; Shapira, R; Kidron, D; Vanagaite-Basel, L; Antonellis, A; Muenke, M | Clinical genetics | 27891590 | 2017 Jun |
| 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 | 28993310 | 2017 10 01 |
| 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 | 27890709 | 2017 Feb |
| Responses to reductive stress in the cardiovascular system. | Handy, Diane E; Loscalzo, Joseph | Free radical biology & medicine | 27940350 | 2017 Aug |
| 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 | 28581494 | 2017 Jul |
| Closing the Genotype-Phenotype Loop for Precision Medicine. | MacRae, Calum A; Seidman, Christine E | Circulation | 29038206 | 2017 10 17 |
| 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 | 28561736 | 2017 May 31 |
| 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 | 27693232 | 2016 Oct 06 |
| Tissue Specificity of Human Disease Module. | Kitsak, Maksim; Sharma, Amitabh; Menche, Jörg; Guney, Emre; Ghiassian, Susan Dina; Loscalzo, Joseph; Barabási, Albert-László | Scientific reports | 27748412 | 2016 10 17 |
| 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 | 28031288 | 2016 Dec 01 |
| Multidimensional structure-function relationships in human β-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 | 27247418 | 2016 Jun 14 |
| 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 | 27378692 | 2016 Aug 15 |
| 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 | 26447401 | 2016 |
| 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 | 26903647 | 2016 Mar 15 |
| 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 | 27789459 | 2016 Dec |
| Challenges of Finding Novel Drugs Targeting the K-Cl Cotransporter. | Delpire, Eric; Weaver, C David | ACS chemical neuroscience | 27998063 | 2016 12 21 |
| 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 | 27532831 | 2016 Aug 18 |
| 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) | 27617989 | 2016 Sep 08 |
| Genomic sequencing in clinical practice: applications, challenges, and opportunities. | Krier, Joel B; Kalia, Sarah S; Green, Robert C | Dialogues in clinical neuroscience | 27757064 | 2016 Sep |
| 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 | 26602010 | 2016 Feb |
| 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 | 27484306 | 2016 09 |
| Zebrafish Genome Engineering Using the CRISPR-Cas9 System. | Li, Mingyu; Zhao, Liyuan; Page-McCaw, Patrick S; Chen, Wenbiao | Trends in genetics : TIG | 27836208 | 2016 12 |
| 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) | 26493744 | 2016 Mar |
| 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 | 27278246 | 2016 Jun 09 |
| 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 | 27572114 | 2016 08 30 |
| The Undiagnosed Diseases Program--Reply. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA | 27139070 | 2016 May 03 |
| Estrogen Metabolite 16α-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 | 26487756 | 2016 Jan 05 |
| Illuminating drug action by network integration of disease genes: a case study of myocardial infarction. | Wang, Rui-Sheng; Loscalzo, Joseph | Molecular bioSystems | 27004607 | 2016 04 26 |
| 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 | 27681629 | 2016 Oct 11 |
| 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 | 27163549 | 2016 Sep |
| 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 | 26992325 | 2016 May |
| FGF1 Mediates Overnutrition-Induced Compensatory β-Cell Differentiation. | Li, Mingyu; Page-McCaw, Patrick; Chen, Wenbiao | Diabetes | 26420862 | 2016 Jan |
| Multiplex conditional mutagenesis in zebrafish using the CRISPR/Cas system. | Yin, L; Maddison, L A; Chen, W | Methods in cell biology | 27443918 | 2016 |
| 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 | 27900370 | 2016 11 |
| The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons. | Hope, Kevin A; LeDoux, Mark S; Reiter, Lawrence T | Epigenetics | 27599063 | 2016 Sep |
| 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 | 27762356 | 2016 10 20 |
| The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine. | MacRae, Calum A; Vasan, Ramachandran S | Circulation | 27324359 | 2016 Jun 21 |
| Adaptions to Hypoxia and Redox Stress: Essential Concepts Confounded by Misleading Terminology. | Loscalzo, Joseph | Circulation research | 27492841 | 2016 Aug 05 |
| The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine. | Gahl, William A; Mulvihill, John J; Toro, Camilo; Markello, Thomas C; Wise, Anastasia L; Ramoni, Rachel B; Adams, David R; Tifft, Cynthia J; UDN | Molecular genetics and metabolism | 26846157 | 2016 Apr |
| 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 | 27640307 | 2016 Oct 06 |
| 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 | 25824290 | 2015 Mar 31 |
| Glucagon receptor inactivation leads to α-cell hyperplasia in zebrafish. | Li, Mingyu; Dean, E Danielle; Zhao, Liyuan; Nicholson, Wendell E; Powers, Alvin C; Chen, Wenbiao | The Journal of endocrinology | 26446275 | 2015 Nov |
| 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 | 26220576 | 2015 Oct |
| The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. | Gahl, William A; Wise, Anastasia L; Ashley, Euan A | JAMA | 26375289 | 2015 Nov 03 |
| 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 | 26295439 | 2015 Oct |
| 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 | 25817015 | 2015 Apr 02 |
| Gene-specific cell labeling using MiMIC transposons. | Gnerer, Joshua P; Venken, Koen J T; Dierick, Herman A | Nucleic acids research | 25712101 | 2015 Apr 30 |
| 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 | 26048245 | 2015 Jul |
| 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 | 26374847 | 2015 Nov 15 |
| 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 | 25607374 | 2015 Mar 15 |
| 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) | 25968920 | 2015 Aug |
| Nutri(meta)genetics and cardiovascular disease: novel concepts in the interaction of diet and genomic variation. | Joseph, Jacob; Loscalzo, Joseph | Current atherosclerosis reports | 25782777 | 2015 May |
| 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 | 26119818 | 2015 Jul 02 |
| 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 | 25389906 | 2015 Feb 15 |
| 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.) | 25700523 | 2015 Feb 20 |
| 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 | 25891169 | 2015 |
| 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 | 2015 Sep |
| 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 | 26501415 | 2015 Oct |
| 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 | 25855067 | 2015 Jun |
| 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 | 25873470 | 2015 Apr 15 |
| 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 | 24374161 | 2014 Feb |
| A Novel SHOC2 Variant in Rasopathy. | Hannig, Vickie; Jeoung, Myoungkun; Jang, Eun Ryoung; Phillips 3rd, John A; Galperin, Emilia | Human mutation | 25137548 | 2014 Nov |
| 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 | 23928913 | 2014 Feb |
