Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Elisabeth Bosch(Friedrich-Alexander-Universität Erlangen-Nürnberg), E. Grau Garcia(Indiana University School of Medicine), Kwame Anyane‐Yeboa(Columbia University Irving Medical Center), J Gordon Millichap(Northwestern University), Outi Kuismin(King's College London), Arie van Haeringen(Leiden University), Eloise J. Prijoles(Greenwood Genetic Center), Pia Zacher, Irene Valenzuela(Vall d'Hebron Institut de Recerca), Brett H. Graham(Baylor College of Medicine), Isabelle Thiffault(Children's Mercy Hospital), Julián A. Martínez-Agosto(University of California, Los Angeles), Patrizia De Marco(Istituto Nazionale per le Malattie Infettive Lazzaro Spallanzani), Stefania Granata(University of Siena), Charlotte Close(Columbia University Irving Medical Center), Marcello Scala(Hospital for Sick Children), Valeria Capra(Istituto Giannina Gaslini), Erin McGinnis(Lurie Children's Hospital), Heather C. Mefford(University of Washington), Anna Maria Pinto(Azienda Ospedaliera Universitaria Senese), Carlo Marcelis(Radboud University Nijmegen), Esther Güse(Friedrich-Alexander-Universität Erlangen-Nürnberg), Gea Beunders(Amsterdam UMC Location Vrije Universiteit Amsterdam), Dewi Hartwich(Johannes Gutenberg University Mainz), Lucia Pia Bruno(Telethon Institute Of Genetics And Medicine), Laura Holthöfer(Johannes Gutenberg University Mainz), Elaine M. Pereira(Columbia University Irving Medical Center), Mark Hannibal, Amelle Shillington(Cincinnati Children's Hospital Medical Center), Lauren B. Carter(Levine Children's Hospital), Priya T. Bhola(Children's Hospital of Eastern Ontario), Bertrand Isidor(Centre National de la Recherche Scientifique), Pleuntje J. van der Sluijs(Leiden University Medical Center), Amy Dobson(Greenwood Genetic Center), Alessandra Renieri(University of Siena), Cindy Skinner(Greenwood Genetic Center), Bernt Popp(Friedrich-Alexander-Universität Erlangen-Nürnberg), Jiddeke M. van de Kamp(Amsterdam UMC Location Vrije Universiteit Amsterdam), Dagmar Wieczorek(Essen University Hospital), Rami Abou Jamra(Leipzig University), Ivon Cuscó(Vall d'Hebron Institut de Recerca), Mallory Wagner(University of Michigan), Konrad Platzer(Leipzig University), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Isabelle Maystadt(Institute of Pathology and Genetics), Özlem Baysal(Radboud University Nijmegen), Muhammad Umair(King Saud bin Abdulaziz University for Health Sciences), Benjamin Cogné(Centre National de la Recherche Scientifique), Ahna M. Rabani(UCLA Health), Marzia Ognibene(Istituto Giannina Gaslini)
Genetics in Medicine
August 5, 2023
Cited by 16


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