De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)
Davor Lessel,Claudia Schob,Sebastien Kury,Margot R. F. Reijnders,Tamar Harel,Mohammad K. Eldomery,Zeynep Coban-Akdemir,Jonas Denecke,Shimon Edvardson,Estelle Colin,Alexander P. A. Stegmann,Erica H. Gerkes,Marine Tessarech,Dominique Bonneau,Magalie Barth,Thomas Besnard,Benjamin Cogne,Anya Revah-Politi,Tim M. Strom,Jill A. Rosenfeld,Yaping Yang,Jennifer E. Posey,LaDonna Immken,Nelly Oundjian,Katherine L. Helbig,Naomi Meeks,Kelsey Zegar,Jenny Morton,Jolanda H. Schieving,Ana Claasen,Matthew Huentelman,Vinodh Narayanan,Keri Ramsey,Han G. Brunner,Orly Elpeleg,Sandra Mercier,Stephane Bezieau,Christian Kubisch,Tjitske Kleefstra,Stefan Kindler,James R. Lupski,Hans-Jurgen Kreienkamp The American Journal of Human Genetics(2018)
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