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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Autor: Schirwani S; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK., Albaba S; Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Carere DA; GeneDx, Inc, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Inc, Gaithersburg, Maryland, USA., Milan Zamora F; GeneDx, Inc, Gaithersburg, Maryland, USA., Si Y; GeneDx, Inc, Gaithersburg, Maryland, USA., Rabin R; Department of Pediatrics, New York University School of Medicine, New York, New York, USA., Pappas J; Department of Pediatrics, New York University School of Medicine, New York, New York, USA., Renaud DL; Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota, USA., Hauser N; Department of Pediatrics, Division of Medical Genomics, Inova Health System, Falls Church, Virginia, USA., Reid E; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK., Blanchet P; Département de Génétique Médicale, CHU de Montpellier, Montpellier, France., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Dixit A; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Fisher R; Teesside Genetics Unit, The James Cook University Hospital, Middlesbrough, UK., Armstrong R; Departments of Medical Genetics and Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Isidor B; Service de génétique médicale, CHU Nantes, Nantes, France., Cogne B; Service de génétique médicale, CHU Nantes, Nantes, France., Schrier Vergano S; Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Eastern Virginia Medical School, Norfolk, Virginia, USA., Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Dykzeul N; Lucile Packard Children's Hospital, Stanford Children's Health, Palo Alto, California, USA., Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Grand K; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, California, USA., Morel D; University of Miami, Miller School of Medicine, Miami, Florida, USA., Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California, USA., Albassam HF; Department of Pediatrics, Care National Hospital, Riyadh, Saudi Arabia., Naik S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen Royal Infirmary, Aberdeen, UK., Ragge N; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Costa C; Neurology Clinic, Department of Medicine, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy., Tedesco MG; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy.; Genetics Unit, 'Mauro Baschirotto' Institute for Rare Diseases (B.I.R.D.), Costozza di Longare, Vicenza, Italy., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Challman TD; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Cunniff C; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA., Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA., Walia JS; Divsion of Medical Genetics, Departments of Pediatrics, Queen's University, Kingston, Ontario, Canada., Bruel AL; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Dijon, France., Kini U; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Slegesky V; University of Colorado & Children's Hospital Colorado, Denver, Colorado, USA., Meeks N; University of Colorado & Children's Hospital Colorado, Denver, Colorado, USA., Girotto P; Division of Child Neurology, Department of Pediatrics, Santa Casa de São Paulo School of Medical Sciences, São Paulo, Brazil., Johnson D; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; EDS National Diagnostic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Newbury-Ecob R; Bristol Regional Genetics Service, St Michael's Hospital, Bristol, UK., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Prontera P; Medical Genetics Unit, Santa Maria della Misericordia Hospital, University of Perugia, Perugia, Italy., Lynch SA; Department of Clinical Genetics, Temple Street Children's Hospital, Dublin, Ireland., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Graham JM Jr; Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Pierson TM; Departments of Pediatrics, Neurology, Cedars-Sinai Center for the Undiagnosed Patient, and Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles CA, USA., Balasubramanian M; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3446-3458. Date of Electronic Publication: 2021 Aug 26.