De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Am J Hum Genet
.
2018 Jan 4;102(1):196.
doi: 10.1016/j.ajhg.2017.12.016.
Authors
Davor Lessel
,
Claudia Schob
,
Sébastien Küry
,
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 Cogné
,
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
,
The Ddd Study
,
Jolanda H Schieving
,
Ana Claasen
,
Matthew Huentelman
,
Vinodh Narayanan
,
Keri Ramsey
;
C4RCD Research Group
;
Han G Brunner
,
Orly Elpeleg
,
Sandra Mercier
,
Stéphane Bézieau
,
Christian Kubisch
,
Tjitske Kleefstra
,
Stefan Kindler
,
James R Lupski
,
Hans-Jürgen Kreienkamp
PMID:
29304375
PMCID:
PMC5777981
DOI:
10.1016/j.ajhg.2017.12.016
No abstract available
Publication types
Published Erratum
Grants and funding
K08 HG008986/HG/NHGRI NIH HHS/United States
U54 HG003273/HG/NHGRI NIH HHS/United States