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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome Booth, Kevin T. A.; Jangam, Sharayu, V; Chui, Martin M. C.; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Hui, Jeffrey Wan-Hei; White, Kerry; Christensen, Celanie K.; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H. Y.; Lynch, Sally A.; Mullegama, Sureni, V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K.; Wong, Sandra Y. Y.; Mak, Christopher C. Y.; Kwong, Anna K. Y.; Bellen, Hugo J.; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F.; Chung, Brian H. Y.; Vetrini, Francesco Share Save
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms Bereshneh, Ali H.; Andrews, Jonathan C.; Eberl, Daniel F.; Bademci, Guney; Borja, Nicholas A.; Bivona, Stephanie; Chung, Wendy K.; Yamamoto, Shinya; Wangler, Michael F.; McKee, Shane; Tekin, Mustafa; Bellen, Hugo J.; Kanca, Oguz Share Save
De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies Weisz-Hubshman, Monika; Burrage, Lindsay C.; V. Jangam, Sharayu; Rosenfeld, Jill A.; von Hardenberg, Sandra; Bergmann, Anke; Richter, Manuela Friederike; Rydzanicz, Malgorzata; Ploski, Rafal; Stembalska, Agnieszka; Chung, Wendy K.; Hernan, Rebecca R.; Lim, Foong Y.; Brunet, Theresa; Syrbe, Steffen; Keren, Boris; Heide, Solveig; Murdock, David R.; Dai, Hongzheng; Xia, Fan; Ketkar, Shamika; Dawson, Brian; Narayanan, Vinodh; Graves, Hillary K.; Wangler, Michael F.; Bacino, Carlos; Lee, Brendan Share Save
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma Ma, Mengqi; Ganapathi, Mythily; Zheng, Yiming; Tan, Kai-Li; Kanca, Oguz; Bove, Kevin E.; Quintanilla, Norma; Sag, Sebnem O.; Temel, Sehime G.; LeDuc, Charles A.; McPartland, Amanda J.; Pereira, Elaine M.; Shen, Yufeng; Hagen, Jacob; Thomas, Christie P.; Galvan, Nhu Thao Nguyen; Pan, Xueyang; Lu, Shenzhao; Rosenfeld, Jill A.; Calame, Daniel G.; Wangler, Michael F.; Lupski, James R.; Pehlivan, Davut; Hertel, Paula M.; Chung, Wendy K.; Bellen, Hugo J. Share Save
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J. Share Save
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A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster Jangam, Sharayu, V; Briere, Lauren C.; Jay, Kristy L.; Andrews, Jonathan C.; Walker, Melissa A.; Rodan, Lance H.; High, Frances A.; Yamamoto, Shinya; Undiagnosed Diseases Network, Michael F.; Sweetser, David A.; Wangler, Michael F. Share Save
De novo variants in FRMDS are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A.; Jankovic, Joseph; Sutton, V. Reid; Bartley, James A.; Wang, Xueying; Rosenfeld, Jill A.; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F.; Dai, Yuwei; Bellen, Hugo J. Share Save
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder Grosso, Benjamin J.; Kramer, Audra A.; Tyagi, Sidharth; Bennett, Daniel F.; Tifft, Cynthia J.; D'Souza, Precilla; Wangler, Michael F.; Macnamara, Ellen F.; Meza, Ulises; Bannister, Roger A. Share Save
Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data Thistlethwaite, Lillian R.; Li, Xiqi; Burrage, Lindsay C.; Riehle, Kevin; Hacia, Joseph G.; Braverman, Nancy; Wangler, Michael F.; Miller, Marcus J.; Elsea, Sarah H.; Milosavljevic, Aleksandar Share Save
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain Deisseroth, Cole A.; Lerma, Vanesa C.; Magyar, Christina L.; Pfliger, Jessica Mae; Nayak, Aarushi; Bliss, Nathan D.; LeMaire, Ashley W.; Narayanan, Vinodh; Balak, Christopher; Zanni, Ginevra; Valente, Enza Maria; Bertini, Enrico; Benke, Paul J.; Wangler, Michael F.; Chao, Hsiao-Tuan Share Save
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; Boycott, Kym M.; Wangler, Michael F.; Bellen, Hugo J.; Hieter, Philip; Pavlidis, Paul; Liu, Zhandong; Yamamoto, Shinya Share Save
Novel CIC variants identified in individuals with neurodevelopmental phenotypes Sharma, Saloni; Hourigan, Brenna; Patel, Zain; Rosenfeld, Jill A.; Chan, Katie M.; Wangler, Michael F.; Yi, Joanna S.; Lehman, Anna; Study, Causes; Horvath, Gabriella; Cloos, Paul A.; Tan, Qiumin Share Save
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases Marcogliese, Paul C.; Deal, Samantha L.; Andrews, Jonathan; Harnish, J. Michael; Bhavana, V. Hemanjani; Graves, Hillary K.; Jangam, Sharayu; Luo, Xi; Liu, Ning; Bei, Danqing; Yu-Hsin Chao; Hull, Brooke; Pei-Tseng Lee; Pan, Hongling; Bhadane, Pradnya; Mei-Chu Huang; Longley, Colleen M.; Hsiao-Tuan Chao; Hyung-lok Chung; Haelterman, Nele A.; Kanca, Oguz; Manivannan, Sathiya N.; Rossetti, Linda Z.; German, Ryan J.; Gerard, Amanda; Schwaibold, Eva Maria Christina; Fehr, Sarah; Guerrini, Renzo; Vetro, Annalisa; England, Eleina; Murali, Chaya N.; Barakat, Tahsin Stefan; van Dooren, Marieke F.; Wilke, Martina; van Slegtenhorst, Marjon; Lesca, Gaetan; Sabatier, Isabelle; Chatron, Nicolas; Brownstein, Catherine A.; Madden, Jill A.; Agrawal, Pankaj B.; Keren, Boris; Courtin, Thomas; Perrin, Laurence; Brugger, Melanie; Roser, Timo; Leiz, Steffen; Mau-Them, Frederic Tran; Delanne, Julian; Sukarova-Angelovska, Elena; Trajkova, Slavica; Rosenhahn, Erik; Strehlow, Vincent; Platzer, Konrad; Keller, Roberto; Pavinato, Lisa; Brusco, Alfredo; Rosenfeld, Jill A.; Marom, Ronit; Wangler, Michael F.; Yamamoto, Shinya Share Save
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