Not logged in Evaluation of epilepsy in 8p-related disorders Abbott, Megan; Angione, Katie; Stringfellow, Megan; Malik, Kristina; Saenz, Margarita; Miele, Andrea; Syverson, Kaiti; Maniar, Bina; Borello, Jacob; Chaby, Lauren; Demarest, Scott Share Save
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations Guillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T. Share Save
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia Symonds, Joseph D.; Park, Kristen L.; Mignot, Cyril; Macleod, Stewart; Armstrong, Martin; Ashrafian, Houman; Bernard, Genevieve; Brown, Kathleen; Brunklaus, Andreas; Callaghan, Mary; Classen, Georg; Cohen, Julie S.; Cutcutache, Ioana; Agathe, Jean-Madeleine de Sainte; Dyment, David; Elliot, Katherine S.; Isapof, Arnaud; Joss, Shelagh; Keren, Boris; Marble, Michael; McTague, Amy; Osmond, Matthew; Page, Matthew; Planes, Marc; Platzer, Konrad; Redon, Sylvia; Reese, James; Saenz, Margarita; Smith-Hicks, Constance; Stobo, Daniel; Stockhaus, Christian; Vuillaume, Marie-Laure; Wolf, Nicole I.; Wakeling, Emma L.; Yoon, Grace; Knight, Julian C.; Zuberi, Sameer M. Share Save
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia Shelkowitz, Emily; V. Stence, Nicholas; Neuberger, Ilana; Park, Kristen L.; Saenz, Margarita S.; Pao, Emily; Oyama, Nora; Friedman, Seth D.; Shaw, Dennis W. W.; Mirzaa, Ghayda M. Share Save
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish Patterson, Victoria; Ullah, Farid; Bryant, Laura; Griffin, John N.; Sidhu, Alpa; Saliganan, Sheila; Blaile, Mackenzie; Saenz, Margarita S.; Smith, Rosemarie; Ellingwood, Sara; Grange, Dorothy K.; Hu, Xuyun; Mireguli, Maimaiti; Luo, Yanfei; Shen, Yiping; Mulhern, Maureen; Zackai, Elaine; Ritter, Alyssa; Izumi, Kosaki; Hoefele, Julia; Wagner, Matias; Riedhammer, Korbinian M.; Seitz, Barbara; Robin, Nathaniel H.; Goodloe, Dana; Mignot, Cyril; Keren, Boris; Cox, Helen; Jarvis, Joanna; Hempel, Maja; Gibson, Cynthia Forster; Mau-Them, Frederic Tran; Vitobello, Antonio; Bruel, Ange-Line; Sorlin, Arthur; Mehta, Sarju; Raymond, F. Lucy; Gilmore, Kelly; Powell, Bradford C.; Weck, Karen; Li, Chumei; Vulto-van Silfhout, Anneke T.; Giacomini, Thea; Mancardi, Maria Margherita; Accogli, Andrea; Salpietro, Vincenzo; Zara, Federico; Vora, Neeta L.; Davis, Erica E.; Burdine, Rebecca; Bhoj, Elizabeth Share Save
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs Share Save
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies Chen, Chun-An; Lattier, John; Zhu, Wenmiao; Rosenfeld, Jill; Wang, Lei; Scott, Tiana M.; Du, Haowei; Patel, Vipulkumar; Anh Dang; Magoulas, Pilar; Streff, Haley; Sebastian, Jessica; Svihovec, Shayna; Curry, Kathryn; Delgado, Mauricio R.; Hanchard, Neil A.; Lalani, Seema; Marom, Ronit; Madan-Khetarpal, Suneeta; Saenz, Margarita; Dai, Hongzheng; Meng, Linyan; Xia, Fan; Bi, Weimin; Liu, Pengfei; Posey, Jennifer E.; Scott, Daryl A.; Lupski, James R.; Eng, Christine M.; Xiao, Rui; Yuan, Bo Share Save
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna Share Save
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype Kojic, Marija; Gawda, Tomasz; Gaik, Monika; Begg, Alexander; Salerno-Kochan, Anna; Kurniawan, Nyoman D.; Jones, Alun; Drozdzyk, Katarzyna; Koscielniak, Anna; Chramiec-Glabik, Andrzej; Hediyeh-Zadeh, Soroor; Kasherman, Maria; Shim, Woo Jun; Sinniah, Enakshi; Genovesi, Laura A.; Abrahamsen, Rannva K.; Fenger, Christina D.; Madsen, Camilla G.; Cohen, Julie S.; Fatemi, Ali; Stark, Zornitza; Lunke, Sebastian; Lee, Joy; Hansen, Jonas K.; Boxill, Martin F.; Keren, Boris; Marey, Isabelle; Saenz, Margarita S.; Brown, Kathleen; Alexander, Suzanne A.; Mureev, Sergey; Batzilla, Alina; Davis, Melissa J.; Piper, Michael; Boden, Mikael; Burne, Thomas H. J.; Palpant, Nathan J.; Moller, Rikke S.; Glatt, Sebastian; Wainwright, Brandon J. Share Save
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics Begemann, Anais; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen E.; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denomme-Pichon, Anne-Sophie; Dyment, Dave A.; Engels, Hartmut; Fisher, Rachel; Goh, Elaine S.; Hajianpour, M. J.; Machado Haertel, Lucia Ribeiro; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenael; Lesca, Gaetan; Mau-Them, Frederic Tran; McDermott, John Henry; McWalter, Kirsty; Meyer, Pierre; Ounap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian M.; Russo, Martina; Sadleir, Lynette G.; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; Van der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita Share Save
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, Cedric; 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; Milian, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Kury, Sebastien; Bezieau, Stephane; Uguen, Kevin; Ferec, 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.; Pena, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. Share Save
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder Koemans, Tom S.; Kleefstra, Tjitske; Chubak, Melissa C.; Stone, Max H.; Reijnders, Margot R. F.; de Munnik, Sonja; Willemsen, Marjolein H.; Fenckova, Michaela; Stumpel, Connie T. R. M.; Bok, Levinus A.; Saenz, Margarita Sifuentes; Byerly, Kyna A.; Baughn, Linda B.; Stegmann, Alexander P. A.; Pfundt, Rolph; Zhou, Huiqing; van Bokhoven, Hans; Schenck, Annette; Kramer, Jamie M. Share Save
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features Chong, Jessica X.; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M.; Jamal, Seema M.; Tabor, Holly K.; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E.; Nickerson, Deborah A.; Bamshad, Michael J. Share Save
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder Hao, Yi-Heng; Fountain, Michael D., Jr.; Tacer, Klementina Fon; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Rosenfeld, Jill A.; Le Caignec, Cedric; Isidor, Bertrand; Krantz, Ian D.; Noon, Sarah E.; Pfotenhauer, Jean P.; Morgan, Thomas M.; Moran, Rocio; Pedersen, Robert C.; Saenz, Margarita S.; Schaaf, Christian P.; Potts, Patrick Ryan Share Save
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy Van Hove, Johan L. K.; Saenz, Margarita S.; Thomas, Janet A.; Gallagher, Renata C.; Lovell, Mark A.; Fenton, Laura Z.; Shanske, Sarah; Myers, Sommer M.; Wanders, Ronald J. A.; Ruiter, Jos; Turkenburg, Marjolein; Waterham, Hans R. Share Save
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