Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

by Xinxian Deng, He Fang, Asha Pathak, Angela M. Zou, Whitney Neufeld-Kaiser, Emily A. Malouf, Richard A. Failor, Fuki M. Hisama, Yajuan J. Liu
Published 2020-09-01

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

by Hannah Gelman, Jennifer N. Dines, Jonathan Berg, Alice H. Berger, Sarah Brnich, Fuki M. Hisama, Richard G. James, Alan F. Rubin, Jay Shendure, Brian Shirts, Douglas M. Fowler, Lea M. Starita, On behalf of the Brotman Baty Institute Mutational Scanning Working Group
Published 2019-12-01