Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies

Chun‐An Chen, John Lattier, Wenmiao Zhu, Jill A. Rosenfeld, Lei Wang, Tiana M. Scott, Haowei Du, Vipulkumar Patel, Anh Dang, Pilar Magoulas, Haley Streff, Jessica Sebastian, Shayna Svihovec, Kathryn Curry, Mauricio R. Delgado, Neil A. Hanchard, Seema R. Lalani, Ronit Marom, Suneeta Madan‐Khetarpal, Margarita Sáenz, Hongzheng Dai, Linyan Meng, Fan Xia, Weimin Bi, Pengfei Liu, Jennifer E. Posey, Daryl A. Scott, James R. Lupski, Christine M. Eng, Rui Xiao, Bo Yuan