Ontology highlight
ABSTRACT:
SUBMITTER: Wang T
PROVIDER: S-EPMC7530681 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Wang Tianyun T Hoekzema Kendra K Vecchio Davide D Wu Huidan H Sulovari Arvis A Coe Bradley P BP Gillentine Madelyn A MA Wilfert Amy B AB Perez-Jurado Luis A LA Kvarnung Malin M Sleyp Yoeri Y Earl Rachel K RK Rosenfeld Jill A JA Geisheker Madeleine R MR Han Lin L Du Bing B Barnett Chris C Thompson Elizabeth E Shaw Marie M Carroll Renee R Friend Kathryn K Catford Rachael R Palmer Elizabeth E EE Zou Xiaobing X Ou Jianjun J Li Honghui H Guo Hui H Gerdts Jennifer J Avola Emanuela E Calabrese Giuseppe G Elia Maurizio M Greco Donatella D Lindstrand Anna A Nordgren Ann A Anderlid Britt-Marie BM Vandeweyer Geert G Van Dijck Anke A Van der Aa Nathalie N McKenna Brooke B Hancarova Miroslava M Bendova Sarka S Havlovicova Marketa M Malerba Giovanni G Bernardina Bernardo Dalla BD Muglia Pierandrea P van Haeringen Arie A Hoffer Mariette J V MJV Franke Barbara B Cappuccio Gerarda G Delatycki Martin M Lockhart Paul J PJ Manning Melanie A MA Liu Pengfei P Scheffer Ingrid E IE Brunetti-Pierri Nicola N Rommelse Nanda N Amaral David G DG Santen Gijs W E GWE Trabetti Elisabetta E Sedláček Zdeněk Z Michaelson Jacob J JJ Pierce Karen K Courchesne Eric E Kooy R Frank RF Nordenskjöld Magnus M Romano Corrado C Peeters Hilde H Bernier Raphael A RA Gecz Jozef J Xia Kun K Eichler Evan E EE
Nature communications 20201001 1
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reporte ...[more]