Pathogenic Variants in SMARCA5, a Chromatin Remodeler, Cause a Range of Syndromic Neurodevelopmental Features.
Dong Li,Qin Wang,Naihua N. Gong,Alina Kurolap,Hagit Baris Feldman,Nikolas Boy,Melanie Brugger,Katheryn Grand,Kirsty McWalter,Maria J. Guillen Sacoto,Emma Wakeling,Jane Hurst,Michael E. March,Elizabeth J. Bhoj,Malgorzata J. M. Nowaczyk,Claudia Gonzaga-Jauregui,Mariam Mathew,Ashita Dava-Wala,Amy Siemon,Dennis Bartholomew,Yue Huang,Hane Lee,Julian A. Martinez-Agosto,Eva M. C. Schwaibold,Theresa Brunet,Daniela Choukair,Lynn S. Pais,Susan M. White,John Christodoulou,Dana Brown,Kristin Lindstrom,Theresa Grebe,Dov Tiosano,Matthew S. Kayser,Tiong Yang Tan,Matthew A. Deardorff,Yuanquan Song,Hakon Hakonarson SCIENCE ADVANCES（2021）
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