View in EDS HTML Full Text PDF Full Text

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Saved in:
Bibliographic Details
Title: A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Authors: Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA., Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA., Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia., Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA., Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Source: Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39202393
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Borroto+MC%22">Borroto MC</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+C%22">Michaud C</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Hudon+C%22">Hudon C</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Agre+K%22">Agre K</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.<br /><searchLink fieldCode="AU" term="%22Applegate+CD%22">Applegate CD</searchLink>; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Bjornsson+HT%22">Bjornsson HT</searchLink>; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Chen+MJ%22">Chen MJ</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.<br /><searchLink fieldCode="AU" term="%22Curry+C%22">Curry C</searchLink>; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA.<br /><searchLink fieldCode="AU" term="%22Devinsky+O%22">Devinsky O</searchLink>; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA.<br /><searchLink fieldCode="AU" term="%22Dudding-Byth+T%22">Dudding-Byth T</searchLink>; Hunter Genetics, Newcastle, NSW 2298, Australia.<br /><searchLink fieldCode="AU" term="%22Fagan+K%22">Fagan K</searchLink>; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA.<br /><searchLink fieldCode="AU" term="%22Finnila+CR%22">Finnila CR</searchLink>; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22Gavrilova+R%22">Gavrilova R</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Hiatt+SM%22">Hiatt SM</searchLink>; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kolvenbach+CM%22">Kolvenbach CM</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Korf+BR%22">Korf BR</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.<br /><searchLink fieldCode="AU" term="%22Kruszka+P%22">Kruszka P</searchLink>; GeneDx LLC, Gaithersburg, MD 20877, USA.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Litwin+J%22">Litwin J</searchLink>; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA.<br /><searchLink fieldCode="AU" term="%22Marcadier+J%22">Marcadier J</searchLink>; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Blackburn+PR%22">Blackburn PR</searchLink>; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA.<br /><searchLink fieldCode="AU" term="%22Reijnders+MRF%22">Reijnders MRF</searchLink>; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Reutter+H%22">Reutter H</searchLink>; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schanze+I%22">Schanze I</searchLink>; Institute of Human Genetics, 39120 Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Shieh+JT%22">Shieh JT</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA.<br /><searchLink fieldCode="AU" term="%22Stevens+CA%22">Stevens CA</searchLink>; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA.<br /><searchLink fieldCode="AU" term="%22Valivullah+Z%22">Valivullah Z</searchLink>; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.<br /><searchLink fieldCode="AU" term="%22van+den+Boogaard+MJ%22">van den Boogaard MJ</searchLink>; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA.<br /><searchLink fieldCode="AU" term="%22Campeau+PM%22">Campeau PM</searchLink>; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). <i>Date of Electronic Publication: </i>2024 Aug 06.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39202393
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/genes15081033
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Borroto MC
      – PersonEntity:
          Name:
            NameFull: Michaud C
      – PersonEntity:
          Name:
            NameFull: Hudon C
      – PersonEntity:
          Name:
            NameFull: Agrawal PB
      – PersonEntity:
          Name:
            NameFull: Agre K
      – PersonEntity:
          Name:
            NameFull: Applegate CD
      – PersonEntity:
          Name:
            NameFull: Beggs AH
      – PersonEntity:
          Name:
            NameFull: Bjornsson HT
      – PersonEntity:
          Name:
            NameFull: Callewaert B
      – PersonEntity:
          Name:
            NameFull: Chen MJ
      – PersonEntity:
          Name:
            NameFull: Curry C
      – PersonEntity:
          Name:
            NameFull: Devinsky O
      – PersonEntity:
          Name:
            NameFull: Dudding-Byth T
      – PersonEntity:
          Name:
            NameFull: Fagan K
      – PersonEntity:
          Name:
            NameFull: Finnila CR
      – PersonEntity:
          Name:
            NameFull: Gavrilova R
      – PersonEntity:
          Name:
            NameFull: Genetti CA
      – PersonEntity:
          Name:
            NameFull: Hiatt SM
      – PersonEntity:
          Name:
            NameFull: Hildebrandt F
      – PersonEntity:
          Name:
            NameFull: Wojcik MH
      – PersonEntity:
          Name:
            NameFull: Kleefstra T
      – PersonEntity:
          Name:
            NameFull: Kolvenbach CM
      – PersonEntity:
          Name:
            NameFull: Korf BR
      – PersonEntity:
          Name:
            NameFull: Kruszka P
      – PersonEntity:
          Name:
            NameFull: Li H
      – PersonEntity:
          Name:
            NameFull: Litwin J
      – PersonEntity:
          Name:
            NameFull: Marcadier J
      – PersonEntity:
          Name:
            NameFull: Platzer K
      – PersonEntity:
          Name:
            NameFull: Blackburn PR
      – PersonEntity:
          Name:
            NameFull: Reijnders MRF
      – PersonEntity:
          Name:
            NameFull: Reutter H
      – PersonEntity:
          Name:
            NameFull: Schanze I
      – PersonEntity:
          Name:
            NameFull: Shieh JT
      – PersonEntity:
          Name:
            NameFull: Stevens CA
      – PersonEntity:
          Name:
            NameFull: Valivullah Z
      – PersonEntity:
          Name:
            NameFull: van den Boogaard MJ
      – PersonEntity:
          Name:
            NameFull: Klee EW
      – PersonEntity:
          Name:
            NameFull: Campeau PM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 08
              Text: 2024 Aug 06
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2073-4425
          Numbering:
            – Type: volume
              Value: 15
            – Type: issue
              Value: 8
          Titles:
            – TitleFull: Genes
              Type: main
ResultId 1