%0 Journal Article
%T De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
%A Alberto G¨®mez
%A Andrea Lehmann
%A Ankita Patel
%A Anne-Sophie Denomm¨¦-Pichon
%A Annick Toutain
%A Benjamin Cogn¨¦
%A Bo Yuan
%A Brigitte Gilbert-Dussardier
%A Carlos A. Bacino
%A Caroline Rooryck
%A Chad A. Shaw
%A Christelle Golzio
%A Deborah Barbouth
%A Dominique Bonneau
%A Elizabeth Roeder
%A Eric Bieth
%A Evan E. Eichler
%A Fan Xia
%A Fr¨¦d¨¦ric Ebstein
%A Holly A.F. Stessman
%A Ignacio Brice£¿o
%A James B. Gibson
%A James R. Lupski
%A Janice L. Smith
%A Jessica Douglas
%A Jill A. Rosenfeld
%A Kamal Khan
%A Kimberly Glaser
%A Kimberly M. Nugent
%A Kristin G. Monaghan
%A Kyle Retterer
%A Laurence Perrin-Sabourin
%A Laurent Pasquier
%A Marie Vincent
%A Marie-Line Jacquemont
%A Mathilde Nizon
%A Mathilde Pacault
%A Megan T. Cho
%A Nicholas Katsanis
%A Pawe£¿ Stankiewicz
%A Peter-Michael Kloetzel
%A Philippe Parent
%A Richard Redon
%A Sandra Mercier
%A Stephan J. Sanders
%A Stephanie Sacharow
%A St¨¦phane B¨¦zieau
%A Sylvain Simon
%A Sylvie Odent
%A S¨¦bastien K¨¹ry
%A S¨¦bastien Schmitt
%A Tahir N. Khan
%A Thomas Besnard
%A Tomasz Gambin
%A Val¨¦rie Malan
%A Wallid Deb
%A Weimin Bi
%A William J. Craigen
%A X¨¦nia Latypova
%A Yaping Yang
%J Archive of "American Journal of Human Genetics".
%D 2017
%R 10.1016/j.ajhg.2017.03.003
%X (The American Journal of Human Genetics 100, 352¨C363; February 2, 2017
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384094/