2019Genetics in MedicineOpen access

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa, Jessica X. Chong, Amélie Piton, Bernt Popp, Kimberly Foss, Hui Guo, Ricardo Harripaul, Kun Xia, Joshua Scheck, Kimberly A. Aldinger, Samin A. Sajan, Sha Tang, Dominique Bonneau, Anita E. Beck, Janson J. White, Sonal Mahida, Jacqueline Harris, Constance Smith‐Hicks, Juliane Hoyer, Christiane Zweier, André Reis, Christian T. Thiel, Rami Abou Jamra, Natasha Zeid, Amy Yang, Laura S. Farach, Laurence E. Walsh, Katelyn Payne, Luis Rohena, Milen Velinov, Alban Ziegler, Élise Schaefer, Vincent Gâtinois, David Geneviève, Marleen Simon, Jennefer N. Kohler, Joshua Rotenberg, Patricia G. Wheeler, Austin Larson, Michelle Ernst, Cigdem I. Akman, Rachel Westman, Patricia Blanchet, Lori-Anne Schillaci, Catherine Vincent‐Delorme, Karen W. Gripp, Francesca Mattioli, Gwenaël Le Guyader, Bénédicte Gérard, Michèle Mathieu-Dramard, G Morin, Roksana Sasanfar, Muhammad Ayub, Nasim Vasli, Sandra Yang, Rick Person, Kristin G. Monaghan, Deborah A. Nickerson, Ellen van Binsbergen, Gregory M. Enns, Annika M. Dries, Leah J. Rowe, Anne Tsai, Shayna Svihovec, Jennifer Friedman, Zehra Agha, Raheel Qamar, Lance H. Rodan, Julián A. Martínez-Agosto, Charlotte W. Ockeloen, Marie Vincent, William J. Sunderland, Jonathan A. Bernstein, Evan E. Eichler, John B. Vincent, Michael J. Bamshad

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Key concepts: Autism spectrum disorder, Neurodevelopmental disorder, Exome sequencing, Phenotype, Genetics, Intellectual disability, Autism, Copy-number variation

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder — Research Paper | ScholarLens