Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3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, Schaida, Albaba,Shadi, Carere, Deanna Alexis, Guillen Sacoto, Maria J., Milan Zamora, Francisca, Si Yue, Rabin, Rachel, Pappas, John, Renaud, Deborah L., Hauser, Natalie, Reid, Evan, Blanchet, Patricia, Foulds, Nichola, Dixit, Abhijit, Fisher, Richard, Armstrong, Ruth, Isidor, Bertrand, Cogne, Benjamin, Vergano, Samantha Schrier, Demirdas, Serwet, Dykzeul, Natalie, Cohen, Julie S., Grand, Katheryn, Morel, Dayna, Slavotinek, Anne, Albassam, Hessa F., Naik, Swati, Dean, John, Ragge, Nicola, Cinzia, Costa, Tedesco, Maria Giovanna, Harrison, Rachel E., Bouman, Arjan, Palen, Emily, Challman, Thomas D., Willemsen, Marjolein H., Vogt, Julie, Cunniff, Christopher, Bergstrom, Katherine, Walia, Jagdeep S., Bruel, Ange-Line, Kini, Usha, Alkuraya, Fowzan S., Slegesky, Valerie, Meeks, Naomi, Girotto, Paula, Johnson, Diana, DDD study, Newbury-Ecob, Ruth, Ockeloen, Charlotte W., Prontera, Paolo, Lynch, Sally Ann, Li Dong, Graham, John M., Jr., Balasubramanian Meena

Purpose. The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. Methods. In this international collaborative study, we have undertaken a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c517d00fb1875dd32e4ef80322fdd326

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.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