Not logged inRecurrent 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 .png)
Share.png)
SaveRetrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathiesChen, 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 De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorderMirzaa, Ghayda M.; Chong, Jessica X.; Piton, Amelie; 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, Andre; 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; Genevieve, 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, Gwenael Le; Gerard, Benedicte; Mathieu-Dramard, Michele; 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.; Eichler, Evan E.; Vincent, John B.; Bamshad, Michael J. Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
