Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
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J. Rosenfeld | J. Lupski | S. Lalani | F. Xia | J. Posey | W. Bi | N. Hanchard | Bo Yuan | Linyan Meng | T. Scott | Rui Xiao | P. Magoulas | Haley E. Streff | Wenmiao Zhu | Chun-An Chen | Lei Wang | Hongzheng Dai | Pengfei Liu | Haowei Du | Suneeta Madan‐Khetarpal | Jessica Sebastian | Vipulkumar Patel | Shayna Svihovec | Ronit Marom | Christine M Eng | John Lattier | Anh Dang | Kathryn Curry | Mauricio R Delgado | Margarita Saenz | Daryl A. Scott | Daryl A Scott | Mauricio R. Delgado