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

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Title: Heterozygous loss-of-function SMC3 variants are associated with variable 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., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA., 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, USA., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., 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, Slovenia., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., 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, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., de Ravel TJL; Centre for Human Genetics, UZ Leuven/Leuven University Hospitals, Leuven, Belgium., Fusaro V; Invitae, San Francisco, CA, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, USA., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Korenke GC; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., 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, USA., Humberson J; University of Virginia Health System, Charlottesville, VA, USA., Napier MP; GeneDx, Gaithersburg, MD, USA., Hoffman J; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, USA., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA., Rockowitz S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dortenzio V; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Divison of Neurology, Boston Children's Hospital, Boston, MA, USA., Rothfelder K; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, USA; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: philip.boone@childrens.harvard.edu.
Source: HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100273. Date of Electronic Publication: 2024 Jan 30.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Heterozygous loss-of-function SMC3 variants are associated with variable 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.<br /><searchLink fieldCode="AU" term="%22Faour+KNW%22">Faour KNW</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Shimamura+A%22">Shimamura A</searchLink>; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA.<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>; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Denhoff+ER%22">Denhoff ER</searchLink>; 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Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Groopman+E%22">Groopman E</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22DiTroia+S%22">DiTroia S</searchLink>; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ballal+S%22">Ballal S</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Divison of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Rothfelder+K%22">Rothfelder K</searchLink>; Zentrum für Humangenetik, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Biskup+S%22">Biskup S</searchLink>; Zentrum für Humangenetik, Tübingen, Germany; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Rzasa+J%22">Rzasa J</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Hilton+S%22">Hilton S</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Banka+S%22">Banka S</searchLink>; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Tüttelmann+F%22">Tüttelmann F</searchLink>; Institute of Reproductive Genetics, University of Münster, Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Conrad+DF%22">Conrad DF</searchLink>; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, USA; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Boone+PM%22">Boone PM</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: philip.boone@childrens.harvard.edu.
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            NameFull: Hilton S
      – PersonEntity:
          Name:
            NameFull: Banka S
      – PersonEntity:
          Name:
            NameFull: Tüttelmann F
      – PersonEntity:
          Name:
            NameFull: Conrad DF
      – PersonEntity:
          Name:
            NameFull: O'Donnell-Luria A
      – PersonEntity:
          Name:
            NameFull: Talkowski ME
      – PersonEntity:
          Name:
            NameFull: FitzPatrick DR
      – PersonEntity:
          Name:
            NameFull: Boone PM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 11
              M: 04
              Text: 2024 Apr 11
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2666-2477
          Numbering:
            – Type: volume
              Value: 5
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: HGG advances
              Type: main
ResultId 1