Not logged in 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
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A. Share Save
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities Chowdhury, Fuad; Wang, Lei; Al-Raqad, Mohammed; Amor, David J.; Baxova, Alice; Bendova, Sarka; Biamino, Elisa; Brusco, Alfredo; Caluseriu, Oana; Cox, Nancy J.; Froukh, Tawfiq; Gunay-Aygun, Meral; Hancarova, Miroslava; Haynes, Devon; Heide, Solveig; Hoganson, George; Kaname, Tadashi; Keren, Boris; Kosaki, Kenjiro; Kubota, Kazuo; Lemons, Jennifer M.; Magrina, Maria A.; Mark, Paul R.; McDonald, Marie T.; Montgomery, Sarah; Morley, Gina M.; Ohnishi, Hidenori; Okamoto, Nobuhiko; Rodriguez-Buritica, David; Rump, Patrick; Sedlacek, Zdenek; Schatz, Krista; Streff, Haley; Uehara, Tomoko; Walia, Jagdeep S.; Wheeler, Patricia G.; Wiesener, Antje; Zweier, Christiane; Kawakami, Koichi; Wentzensen, Ingrid M.; Lalani, Seema R.; Siu, Victoria M.; Bi, Weimin; Balci, Tugce B. Share Save
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation Hansen, Adam W.; Arora, Payal; Khayat, Michael M.; Smith, Leah J.; Lewis, Andrea M.; Rossetti, Linda Z.; Jayaseelan, Joy; Cristian, Ingrid; Haynes, Devon; DiTroia, Stephanie; Meeks, Naomi; Delgado, Mauricio R.; Rosenfeld, Jill A.; Pais, Lynn; White, Susan M.; Meng, Qingchang; Pehlivan, Davut; Liu, Pengfei; Gingras, Marie-Claude; Wangler, Michael F.; Muzny, Donna M.; Lupski, James R.; Kaplan, Craig D.; Gibbs, Richard A. Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; 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, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 eficiency in humans and flies (vol 14, e1007386, 2018) Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstadter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias Share Save
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies Goncalves, Sara; Patat, Julie; Guida, Maria Clara; Lachaussee, Noelle; Arrondel, Christelle; Helmstaedter, Martin; Boyer, Olivia; Gribouval, Olivier; Gubler, Marie-Claire; Mollet, Geraldine; Rio, Marlene; Charbit, Marina; Bole-Feysot, Christine; Nitschke, Patrick; Huber, Tobias B.; Wheeler, Patricia G.; Haynes, Devon; Juusola, Jane; de Villemeur, Thierry Billette; Nava, Caroline; Afenjar, Alexandra; Keren, Boris; Bodmer, Rolf; Antignac, Corinne; Simons, Matias Share Save
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