Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

by Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler
Published 2017-07-01

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

by Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
Published 2017-08-01