Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

by Thomas A. Cassini, Laura Duncan, Lynette C. Rives, John H. Newman, John A. Phillips, Mary E. Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan, Undiagnosed Diseases Network
Published 2019-06-01

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

by 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, John A. Capra
Published 2022-10-01