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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, Małgorzata J.M. Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew
*Corresponding author for this work
- The Children's Hospital of Philadelphia
- University of Pennsylvania
- Tel Aviv Sourasky Medical Center
- Heidelberg University
- Technical University of Munich
- Ludwig Maximilian University of Munich
- Cedars-Sinai Medical Center
- OPKO Health, Inc.
- Great Ormond Street Hospital for Children NHS Foundation Trust
- McMaster University
- Regeneron Pharmaceuticals, Inc.
- Nationwide Children’s Hospital
- University of California at Los Angeles
- Broad Institute
- Murdoch Children's Research Institute
- University of Melbourne
- Phoenix Children's Hospital
- University of Arizona
- Rappaport Children's Hospital
- Technion-Israel Institute of Technology
- University of Southern California
Research output: Contribution to journal › Article › peer-review
16
Scopus
citations