Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Year: 2019
Type: article
Study design: Observational Study
Authors: Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau
Institutions: Centre National de la Recherche Scientifique, Inserm, Centre Hospitalier Universitaire de Nantes, Institut du Thorax, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, AstraZeneca (United Kingdom), The Royal Melbourne Hospital, The University of Melbourne, Austin Hospital, AstraZeneca (Australia), Austin Health, University of Oxford, Mayo Clinic, University of California, San Francisco, Université de Bretagne Occidentale, Centre Hospitalier Régional Universitaire de Brest, Génétique, Génomique Fonctionnelle et Biotechnologies, Université de Bretagne Occidentale, Kennedy Krieger Institute, Johns Hopkins University, National Health Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, University of British Columbia, University of Dundee, Ninewells Hospital, Rush University Medical Center, Oxford University Hospitals NHS Trust, Queen Elizabeth University Hospital, St Olav's University Hospital, Sorbonne Paris Cité, Institut des Maladies Génétiques Imagine, University of Virginia Children's Hospital, Baylor College of Medicine, Texas Children's Hospital, Baylor Genetics, Children's Hospital of Philadelphia, University of Pennsylvania, National Institutes of Health, National Human Genome Research Institute, Boston Children's Hospital, Harvard University, Karolinska University Hospital, Karolinska Institutet, Duke Medical Center, University Medical Center Groningen, University of Groningen, Radboud University Nijmegen, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, University of Arkansas for Medical Sciences, Memorial Hermann, The University of Texas Health Science Center at Houston, Phoenix Children's Hospital, Columbia University, The University of Queensland, Royal Brisbane and Women's Hospital, Telemark Hospital, University of Washington, Oslo University Hospital, Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, Lurie Children's Hospital, Université de Tours, Imaging, Brain, and Neuropsychiatry, Centre Hospitalier Universitaire de Tours, Institut de génétique et de développement de Rennes, Centre Hospitalier Universitaire de Rennes, Université de Rennes, Centre Hospitalier Universitaire d'Angers, Mitochondrial and Cardiovascular Physiopathology, Université d'Angers, Université de Poitiers, Centre Hospitalier Universitaire de Poitiers, University of Alberta, McGill University Health Centre, Institut du cancer Rosalind & Morris Goodman, McGill University, Creighton University, Howard Hughes Medical Institute, Neuroscience and Mental Health Institute, CHU Sainte-Justine Research Center
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: Mayo Clinic, Johns Hopkins University, McGill University, Children's Hospital Foundation, BC Children’s Hospital Foundation, BC Children's Hospital, Génome Québec, Baylor-Hopkins Center for Mendelian Genomics, Genome British Columbia, Ministère des Affaires Sociales et de la Santé, Kids Brain Health Network, National Institutes of Health, Center for Individualized Medicine, Mayo Clinic, Canadian Institutes of Health Research, Fonds de Recherche du Québec - Santé, Medical Research Council, National Heart, Lung, and Blood Institute, National Institute of Mental Health, National Human Genome Research Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G1114968445, G1214820642, 3 of 7 Epi4K: Sequencing, Biostatistics & Bioinformatics Core, G1462636319, The Intellectual and Developmental Disabilities Research Center at CHOP/Penn, G17726878, G1962548367, G2127337682, G2495217882, Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease, G2780988280, G28590424, G3153718366, G3227004654, 4 of 7: Epi4K: Epileptic Encephalopathies Project, G3564106781, G3965429316, G4063265, G4076710040, G4194681829, G4631103297, G49683581, G5361274287, Clinical and Molecular Studies of Malformations, Baylor Johns Hopkins Center for Mendelian Genetics, G5644062237, G616651298, G6418358350, G773311654, 2 of 7 EPI4K - Phenotyping Clinical Informatics Core , G8496125212, G863835797, Retinoid-Related Genes in Diaphragm and Cardiac Development, G9000037839, G9000060819, Rare Mutations and Autism Spectrum Disorders
OpenAlex ID: W2918517022