Publications

Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, und John A. Capra. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants. Human Genetics and Genomics Advances, (3)4:100131, 2022. [PUMA: developmental variant, disease molecular encephalopathy, electrophysiology, Diseases simulations, personalized structural rare dynamics interpretation, epileptic KCNC2, and DEE, variant Network, Undiagnosed biology,] URL

Souhrid Mukherjee, Joy D Cogan, John H Newman, John A Phillips, 3rd, Rizwan Hamid, Undiagnosed Diseases Network, Jens Meiler, und John A Capra. Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network. Am. J. Hum. Genet., (108)10:1946--1963, Elsevier BV, Oktober 2021. [PUMA: disease; prediction; disease learning; Network; oligogenic Diseases clinical digenic rare machine topic_lifescience Undiagnosed UDN;]