Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

Pleuntje J. van der Sluijs(Leiden University Medical Center), Gijs W.E. Santen(Leiden University Medical Center), Khadijé Jizi(Centre Hospitalier Universitaire Sainte-Justine), Antonio Novelli(Bambino Gesù Children's Hospital), Valeria Orlando(Bambino Gesù Children's Hospital), Claire Bénéteau(Centre Hospitalier Universitaire de Bordeaux), Maria Antonietta Mencarelli(Azienda Ospedaliera Universitaria Senese), Sarah A. Sandaradura(Children's Hospital at Westmead), Duco Steenbeek(Maastricht University Medical Centre), Slavica Trajkova(Department of Medical Sciences), Fabienne G. Ropers(Leiden University Medical Center), Maria Lisa Dentici(Casa Sollievo della Sofferenza), Denisa Weis(Johannes Kepler University of Linz), Margherita Baldassarri(University of Siena), Marlies Kempers(Radboud University Nijmegen), David Mowat(UNSW Sydney), Charles Coutton(Centre National de la Recherche Scientifique), Rani Sachdev(Victorian Clinical Genetics Services), Mariëlle Alders(Amsterdam University Medical Centers), Jennifer Kerkhof(London Health Sciences Centre), Raissa Relator(London Health Sciences Centre), Claudia Arberas(Hospital General de Niños Ricardo Gutierrez), Alexander J.M. Dingemans(Radboud University Nijmegen), Nathalie Marle(CHU Dijon Bourgogne), Alfredo Brusco(Azienda Ospedaliera Citta' della Salute e della Scienza di Torino), Kym M. Boycott(Children's Hospital of Eastern Ontario), Katherine Lachlan(Salisbury District Hospital), Mira Kharbanda(Princess Anne Hospital), Sébastien Moutton(Maison des Sciences sociales et des Humanités de Dijon), Koenraad Devriendt(Universitair Ziekenhuis Leuven), Bekim Sadiković(Western University), Jeremy D. Woods(Children's Hospital Central California), Claire Nicolas(Inserm), Bert de Vries(Radboud University Nijmegen), Mieke M. van Haelst(Emma Kinderziekenhuis), Haley McConkey(Western University), Norbert Winer(Centre Hospitalier Universitaire de Nantes), Laurence Faivre(Inserm), Olivier Pichon(Génétique Médicale & Génomique Fonctionelle), Jill A. Rosenfeld(PerkinElmer (United States)), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), Tabib Dabir(Belfast Health and Social Care Trust), Michael A. Levy(London Health Sciences Centre), Matthew A Tedder(Greenwood Genetic Center), Marcello Niceta(Bambino Gesù Children's Hospital), Marco Tartaglia(Bambino Gesù Children's Hospital), Elena Shukarova-Angelovska(University Clinic of Traumatology)
Genetics in Medicine
September 28, 2024
Cited by 6


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