Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

著者: Chris Balak, Marianne Bénard, Élise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle Ernoult‐Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M. Wentzensen, Kristin G. Monaghan, Kirsty McWalter, Ryan Richholt, Antony Le Béchec, Wayne M. Jepsen, Matt De Both, Newell Belnap, Anne Boland, Ignazio S. Piras, Jean‐François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur J. Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean‐Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique Weil, Amélie Piton - The American Journal of Human Genetics 2019 被引用: 86