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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
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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
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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
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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
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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
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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

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