P834: A genetic counselors watchlist: Framework for gene discovery

by Natalie Lippa, Louise Bier, Maureen Mulhern, Parisa Hemati, Halie May, Michelle Florido, Sulagna Tina Kushary, Natalie Vena, Anya Revah-Politi
Published 2024-01-01

Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

by Julius Rönkkö, Svetlana Molchanova, Anya Revah‐Politi, Elaine M. Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig, Julika Neumann, Geert Bultynck, Stéphanie Humblet‐Baron, Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B. Harms, Henna Tyynismaa, Emil Ylikallio
Published 2020-10-01

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.

by Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
Published 2018-11-01