Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

by Fadi I. Musfee, A. J. Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E. Morrow, Deanne M. Taylor, Martin Tristani-Firouzi, W. Scott Watkins, Mark Yandell, Laura E. Mitchell
Published 2021-04-01

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

by Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash
Published 2020-10-01

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

by Omobola O. Oluwafemi, Fadi I. Musfee, Laura E. Mitchell, Elizabeth Goldmuntz, Hongbo M. Xie, Hakon Hakonarson, Bernice E. Morrow, Tingwei Guo, Deanne M. Taylor, Donna M. McDonald-McGinn, Beverly S. Emanuel, A. J. Agopian
Published 2021-07-01