Publication
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Chris Balak, Marianne Benard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult-Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maité Courel, Marcus Naymik, Kristine K. Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean-François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean-Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton
The American Journal of Human Genetics, September 2019, Elsevier
DOI: 10.1016/j.ajhg.2019.07.010