Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

作者：Alba Sanchis-Juan, Karyn Mégy, Jonathan Stephens, Camila Armirola-Ricaurte, Eleanor Dewhurst, Kayyi Low, Courtney E. French, Detelina Grozeva, Kathleen Stirrups, Marie Erwood, Amy McTague, Christopher J. Penkett, Olga Shamardina, Salih Tuna, Louise C. Daugherty, Nicholas Gleadall, Sofia Duarte, Antonio Hedrera-Fernández, Julie Vogt, Gautam Ambegaonkar, Manali Chitre, Dragana Josifova, Manju A. Kurian, Alasdair Parker, Julia Rankin, Evan Reid, Emma Wakeling, Evangeline Wassmer, C. Geoffrey Woods, F. Lucy Raymond, Keren Carss · 发表于：The American Journal of Human Genetics · 年份：2023 · DOI：10.1016/j.ajhg.2023.07.007 · 被引用次数：25 · 研究领域：Genomics and Rare Diseases、Genetics and Neurodevelopmental Disorders、Genomic variations and chromosomal abnormalities