Biallelic Variants in CSMD1 Are Implicated in a Neurodevelopmental Disorder with Intellectual Disability and Variable Cortical Malformations
Elizabeth A. Werren,Emily R. Peirent,Henna Jantti, Alba Guxholli,Kinshuk Raj Srivastava,Naama Orenstein,Vinodh Narayanan,Wojciech Wiszniewski,Mateusz Dawidziuk,Pawel Gawlinski,Muhammad Umair,Amjad Khan,Shahid Niaz Khan,David Genevieve,Daphne Lehalle,K. L. I. van Gassen,Jacques C. Giltay,Renske Oegema,Richard H. van Jaarsveld, Rafiullah,Gudrun A. Rappold,Rachel Rabin,John G. Pappas,Marsha M. Wheeler,Michael J. Bamshad,Yao-Chang Tsan, Matthew B. Johnson,Catherine E. Keegan,Anshika Srivastava,Stephanie L. Bielas CELL DEATH & DISEASE（2024）
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