Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
Year: 2021
Type: article
Study design: Observational Study
Source: Genetics in Medicine
Authors: Chun-An Chen, John Lattier, Wenmiao Zhu, Jill 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 Lalani, Ronit Marom, Suneeta Madan-Khetarpal, Margarita Saenz, 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
Institutions: Baylor College of Medicine, Baylor Genetics, Brigham Young University, Texas Children's Hospital, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Children's Hospital Colorado, University of Colorado Anschutz, Saint Luke's Health System, Texas Scottish Rite Hospital for Children, The University of Texas Southwestern Medical Center, Seattle Children's Hospital, University of Washington
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W3216729941