المؤلفون: Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Neira J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Department of Pediatrics, Section of Child Neurology, Baylor College of Medicine, Houston, Texas, 77030, USA., Santiago-Sim T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Rosenfeld J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Patel V; Baylor Genetics, Houston, Texas, 77021, USA., Jin W; Baylor Genetics, Houston, Texas, 77021, USA., Adam MP; Seattle Children's Hospital, Seattle, Washington, 98105, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, 98105, USA., Baple EL; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, EX1 2ED, UK., Dean J; Clinical Genetics Service, NHS Grampian, Aberdeen, AB25 2ZA, Scotland., Fong CT; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, 14642, USA., Hickey SE; Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, 43205, USA., Hudgins L; Division of Medical Genetics, Stanford University, Stanford, California, 94305, USA., Leon E; Rare Disease Institute, Children's National Health System, Washington, DC, 20010, USA., Madan-Khetarpal S; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, 15224, USA., Rawlins L; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Gladstone Road, Exeter, EX1 2ED, UK., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0424, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., Wenger O; New Leaf Center, Clinic for Special Children, Mt. Eaton, Ohio, 44659, USA., Diaz J; Rare Disease Institute, Children's National Health System, Washington, DC, 20010, USA., Jenkins L; Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania, 15224, USA., Martin L; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, 14642, USA., McGuire M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Pietryga M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA., Ramsdell L; Seattle Children's Hospital, Seattle, Washington, 98105, USA.; Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, 98105, USA., Slattery L; Division of Medical Genetics, Stanford University, Stanford, California, 94305, USA., Abid F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Pediatrics, Section of Child Neurology, Baylor College of Medicine, Houston, Texas, 77030, USA., Bertuch AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA., Grange D; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, 63110, USA., Immken L; Dell Children's Medical Center of Central Texas, Austin, Texas, 78723, USA., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, University Hospital Cologne, Cologne, Germany., Van Esch H; Center for Human Genetics, Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Breman AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Smith JL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Shaw C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Crosby AH; University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK., Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Texas Children's Hospital, Houston, Texas, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, 77030, USA., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.; Baylor Genetics, Houston, Texas, 77021, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA. pengfei.liu@bcm.edu.; Baylor Genetics, Houston, Texas, 77021, USA. pengfei.liu@bcm.edu.

مؤلفون مشاركون: DDD Study

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 663-675. Date of Electronic Publication: 2018 Aug 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Biological Variation, Population/*genetics , Cell Cycle Proteins/*genetics , Chromosomal Proteins, Non-Histone/*genetics, Adolescent ; Alleles ; Antigens, Nuclear/genetics ; Carrier Proteins/genetics ; Child ; Child, Preschool ; Cohort Studies ; De Lange Syndrome/diagnosis ; De Lange Syndrome/genetics ; Exome/genetics ; Female ; Gene Frequency/genetics ; Genetic Heterogeneity ; Humans ; INDEL Mutation/genetics ; Male ; Mutation ; Nuclear Proteins/genetics ; Phenotype ; Polymorphism, Single Nucleotide/genetics ; Proto-Oncogene Proteins/genetics ; Retrospective Studies ; Exome Sequencing/methods ; Cohesins