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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; O'Donnell-Luria, Anne; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth.
Affiliation
  • Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.
  • Faour KNW; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
  • Shimamura A; These authors contributed equally.
  • Grimes G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
  • Kao EM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
  • Denhoff ER; These authors contributed equally.
  • Blatnik A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US.
  • Ben-Isvy D; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
  • Wang L; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
  • Helm BM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
  • Firth H; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
  • Breman AM; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI.
  • Bijlsma EK; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
  • Iwata-Otsubo A; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
  • de Ravel TJL; Division of Medical Sciences, Harvard Medical School, Boston, MA, US.
  • Fusaro V; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
  • Fryer A; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
  • Nykamp K; Division of Medical Sciences, Harvard Medical School, Boston, MA, US.
  • Stühn LG; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.
  • Haack TB; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.
  • Korenke GC; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.
  • Constantinou P; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL.
  • Bujakowska KM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.
  • Low KJ; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE.
  • Place E; Invitae, San Francisco, CA, US.
  • Humberson J; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK.
  • Napier MP; Invitae, San Francisco, CA, US.
  • Hoffman J; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.
  • Juusola J; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.
  • Deardorff MA; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE.
  • Shao W; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
  • Rockowitz S; Massachusetts Eye and Ear Infirmary, Boston, MA, US.
  • Krantz I; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Kaur M; University of Bristol, Bristol, UK.
  • Raible S; Massachusetts Eye and Ear Infirmary, Boston, MA, US.
  • Kliesch S; University of Virginia Health System, Charlottesville, VA, US.
  • Singer-Berk M; GeneDx, Gaithersburg, MD, US.
  • Groopman E; GeneDx, Gaithersburg, MD, US.
  • DiTroia S; GeneDx, Gaithersburg, MD, US.
  • Ballal S; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US.
  • Srivastava S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.
  • Rothfelder K; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.
  • Biskup S; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.
  • Rzasa J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
  • Kerkhof J; Children's Hospital of Philadelphia, Philadelphia, PA, US.
  • McConkey H; Children's Hospital of Philadelphia, Philadelphia, PA, US.
  • O'Donnell-Luria A; Children's Hospital of Philadelphia, Philadelphia, PA, US.
  • Sadikovic B; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE.
  • Hilton S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
  • Banka S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
medRxiv ; 2023 Sep 28.
Article de En | MEDLINE | ID: mdl-37808847
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Prognostic_studies / Risk_factors_studies Langue: En Journal: MedRxiv Année: 2023 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Prognostic_studies / Risk_factors_studies Langue: En Journal: MedRxiv Année: 2023 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: États-Unis d'Amérique