De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy-Reference-Cited by-同舟云学术

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Published:2021-07 Issue:7 Volume:108 Page:1330-1341
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Usmani Muhammad A.,Ahmed Zubair M.,Magini Pamela,Pienkowski Victor Murcia,Rasmussen Kristen J.,Hernan Rebecca,Rasheed Faiza,Hussain Mureed,Shahzad Mohsin,Lanpher Brendan C.,Niu Zhiyv,Lim Foong-Yen,Pippucci Tommaso,Ploski Rafal,Kraus Verena,Matuszewska Karolina,Palombo Flavia,Kianmahd Jessica,Martinez-Agosto Julian A.,Lee Hane,Colao Emma,Motazacker M. Mahdi,Brigatti Karlla W.,Puffenberger Erik G.,Riazuddin S. Amer,Gonzaga-Jauregui Claudia,Chung Wendy K.,Wagner Matias,Schultz Matthew J.,Seri Marco,Kievit Anneke J.A.,Perrotti Nicola,Klein Wassink-Ruiter J.S.,van Bokhoven Hans,Riazuddin Sheikh,Riazuddin Saima

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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