Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Authors: Charlotte Guillouet; Valeria Agostini; Geneviève Baujat; Dario Cocciadiferro; Tommaso Pippucci; Marion Lesieur-Sebellin; Mathieu Georget; Ulrich Schatz; Christine Fauth; Raymond J Louie; Curtis Rogers; Jessica M Davis; Vassiliki Konstantopoulou; Johannes A Mayr; Arjan Bouman; Martina Wilke; Grace E VanNoy; Eleina M England; Kristen L Park; Kathleen Brown; Margarita Saenz; Antonio Novelli; Maria Cristina Digilio; Gioia Mastromoro; Mauro Ciro Antonio Rongioletti; Gerardo Piacentini; Rauan Kaiyrzhanov; Sughra Guliyeva; Lala Hasanova; Deborah Shears; Ishita Bhatnagar; Karen Stals; Oliver Klaas; Judit Horvath; Patrice Bouvagnet; P Dane Witmer; Gretchen MacCarrick; Katarina Cisarova; Jean-Marc Good; Svetlana Gorokhova; Odile Boute; Thomas Smol; Ange-Line Bruel; Olivier Patat; Julia R Broadbent; Tiong Y Tan; Natalie B Tan; Stanislas Lyonnet; Tiffany Busa; Claudio Graziano; Jeanne Amiel; Christopher T Gordon
Collaborators: Aix Marseille University; Azienda USL della Romagna; Bambino Gesu Children's Hospital; Broad Institute of MIT and Harvard; Caspian International Hospital; CHU Lille; CHU Toulouse Purpan; Erasmus Medical Centre; Greenwood Genetic Center; Inserm; Institute of Medical Genetics, Medical University of Vienna; Johns Hopkins University School of Medicine; Laboratoire Eurofins Biomnis; Medical University Innsbruck; Medical University of Graz; MediClub Hospital; Murdoch Childrens Research Institute; Ospedale Isola Tiberina; Oxford Medical Genetics Laboratories; Paracelsus Medical University; Royal Devon and Exeter NHS Foundation Trust; South Kazakhstan Medical Academy; Timone Hospital; Université Paris Cité; University Hospital Muenster; University of Bologna; University of Burgundy and Franche-Comté; University of Colorado Anschutz; University of Lausanne; University of Melbourne; University of Munich; Victorian Clinical Genetics Services; Washington University School of Medicine, St. Louis Children’s Hospital