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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

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Title: Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Authors: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE., Fusaro V; Invitae, San Francisco, CA, US., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, US., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Humberson J; University of Virginia Health System, Charlottesville, VA, US., Napier MP; GeneDx, Gaithersburg, MD, US., Hoffman J; GeneDx, Gaithersburg, MD, US., Juusola J; GeneDx, Gaithersburg, MD, US., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US., Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US., Rothfelder K; Zentrum für Humangenetik, Tübingen, DE., Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Hilton S; Manchester University, Manchester, UK., Banka S; Manchester University, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE., Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.
Publication Type: Preprint; Journal Article
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
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  Data: <searchLink fieldCode="AU" term="%22Ansari+M%22">Ansari M</searchLink>; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Faour+KNW%22">Faour KNW</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally.<br /><searchLink fieldCode="AU" term="%22Shimamura+A%22">Shimamura A</searchLink>; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Grimes+G%22">Grimes G</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Kao+EM%22">Kao EM</searchLink>; 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Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Rothfelder+K%22">Rothfelder K</searchLink>; Zentrum für Humangenetik, Tübingen, DE.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE.<br /><searchLink fieldCode="AU" term="%22Rzasa+J%22">Rzasa J</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; 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            – D: 28
              M: 09
              Text: 2023 Sep 28
              Type: published
              Y: 2023
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1