Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

• 期刊名称The American Journal of Human Genetics
• 作者Cheng, Hanyin; Dharmadhikari, Avinash V.; Varland, Sylvia; Ma, Ning; Domingo, Deepti; Kleyner, Robert; Rope, Alan F.; Yoon, Margaret; Stray-Pedersen, Asbjørg; Posey, Jennifer E.; Crews, Sarah R.; Eldomery, Mohammad K.; Akdemir, Zeynep Coban; Lewis, Andrea M.; Sutton, Vernon R.; Rosenfeld, Jill A.; Conboy, Erin; Agre, Katherine; Xia, Fan; Walkiewicz, Magdalena; Longoni, Mauro; High, Frances A.; van Slegtenhorst, Marjon A.; Mancini, Grazia M.S.; Finnila, Candice R.; van Haeringen, Arie; den Hollander, Nicolette; Ruivenkamp, Claudia; Naidu, Sakkubai; Mahida, Sonal; Palmer, Elizabeth E.; Murray, Lucinda; Lim, Derek; Jayakar, Parul; Parker, Michael J.; Giusto, Stefania; Stracuzzi, Emanuela; Romano, Corrado; Beighley, Jennifer S.; Bernier, Raphael A.; Küry, Sébastien; Nizon, Mathilde; Corbett, Mark A.; Shaw, Marie; Gardner, Alison; Barnett, Christopher; Armstrong, Ruth; Kassahn, Karin S.; Van Dijck, Anke; Vandeweyer, Geert; Kleefstra, Tjitske; Schieving, Jolanda; Jongmans, Marjolijn J.; de Vries, Bert B.A.; Pfundt, Rolph; Kerr, Bronwyn; Rojas, Samantha K.; Boycott, Kym M.; Person, Richard; Willaert, Rebecca; Eichler, Evan E.; Kooy, R. Frank; Yang, Yaping; Wu, Joseph C.; Lupski, James R.; Arnesen, Thomas; Cooper, Gregory M.; Chung, Wendy K.; Gecz, Jozef; Stessman, Holly A.F.; Meng, Linyan; Lyon, Gholson J.
• 卷第102卷
• 期第5期
• 印刷ISSN0002-9297
• 文件大小1340.74KB
• 发表时间2018-05
• DOI10.1016/j.ajhg.2018.03.004
• 页码985-994