De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Authors: Audrey Schalk; Margot A Cousin; Nikita R Dsouza; Thomas D Challman; Karen E Wain; Zoe Powis; Kelly Minks; Aurélien Trimouille; Eulalie Lasseaux; Didier Lacombe; Chloé Angelini; Vincent Michaud; Julien Van-Gils; Nino Spataro; Anna Ruiz; Elizabeth Gabau; Elliot Stolerman; Camerun Washington; Ray Louie; Brendan C Lanpher; Jennifer L Kemppainen; Micheil Innes; Frank Kooy; Marije Meuwissen; Alice Goldenberg; Francois Lecoquierre; Gabriella Vera; Karin E M Diderich; Beth Sheidley; Christelle Moufawad El Achkar; Meredith Park; Fadi F Hamdan; Jacques L Michaud; Ann J Lewis; Christiane Zweier; André Reis; Matias Wagner; Heike Weigand; Hubert Journel; Boris Keren; Sandrine Passemard; Cyril Mignot; Koen van Gassen; Eva H Brilstra; Gina Itzikowitz; Emily O'Heir; Jake Allen; Kirsten A Donald; Bruce Richard Korf; Tammi Skelton; Michelle L Thompson; Nathaniel H Robin; Natasha L Rudy; William B Dobyns; Kimberly Foss; Yuri Alexander Zarate; Katherine B. Bosanko; Yves Alembik; Benjamin Durand; Frederic Tran Mau-Them; Emmanuelle Ranza; Xavier Blanc; Stylianos E Antonarakis; Kirsty McWalter; Erin Torti; Francisca Millan; Amy Dameron; Mari Tokita; Michael T Zimmermann; Eric W Klee; Amelie Piton; Benedicte Gerard
Collaborators: Antwerp University Hospital; Boston Children's Hospital; Broad Institute; Centre Hospitalier Universitaire de Bordeaux; Centre Hospitalier Universitaire de Rouen; Erasmus Medical Centre; Friedrich-Alexander-Universität Erlangen-Nürnberg; Geisinger-Lewistown Hospital; GeneDx; Greenwood Genetic Center; Helmholtz Zentrum München; Hopital Chubert; Hôpitaux universitaires de Strasbourg; HudsonAlpha Institute for Biotechnology; Inselspital University Hospital Bern; Kaiser Permanente San Jose Medical Center; Lebanese American University; Mayo Clinic; Medical College of Wisconsin; NeuroDiderot; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology; Parc Taulí Hospital Universitari; Red Cross War Memorial Children's Hospital; Robert Debré Hospital, APHP, Paris, France; Sainte Justine Hospital; Seattle Children's Research Institute; Swiss Institute of Medicine; Technische Universitat Munchen; University Medical Center Utrecht; University of Alabama at Birmingham; University of Arkansas for Medical Sciences; University of Calgary Cumming School of Medicine; University of Cape Town