Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.

Autor: May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. hh2742@cumc.columbia.edu., Jeong J; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Bottani A; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Carminho A Rodrigues MT; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Conlon C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA., Fluss J; Pediatric Neurology Unit, Pediatrics Subspecialties Service, Geneva Children's Hospital, Geneva, Switzerland., Guipponi M; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Kim CA; Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Person R; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Primiano M; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Telegrafi A; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Toy S; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Roche KW; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Anyane-Yeboa K; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. ka8@cumc.columbia.edu.; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. ka8@cumc.columbia.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 1912-1921. Date of Electronic Publication: 2021 Jun 10.