De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
ZNF292基因的新生突变和遗传突变是导致神经发育障碍的根本原因,该障碍具有自闭症谱系障碍的特征。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-019-0693-9
Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; 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, André; 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; Geneviève, 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, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle; 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