Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism

by Arushi Verma, Parisa Salehi, Anne Hing, Alissa Jeanne Curda Roberts
Published 2021-09-01

P099: Mosaic variant in RHOA in an adolescent with a multisystem disorder composed of congenital and progressive anomalies

by Aimee Allworth, Ian Glass, Anne Hing, Elizabeth Blue, Elisabeth Rosenthal, Sam Strohbehn, Gail Jarvik, Katrina Dipple, Andrew Stergachis, Virginia Sybert, Jane Ranchalis, Martha Horike-Pyne, Sirisak Chanprasert, Fuki Hisama, Michael Bamshad, James Bennett, Heather Brandling-Bennett, Michelle Cabrera, Mark Wener
Published 2023-01-01

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

by Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis
Published 2023-06-01