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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Konrad, Enrico D H; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E; Õunap, Katrin; Pajusalu, Sander; Wojcik, Monica H; Vasileiou, Georgia; Le Guyader, Gwenaël; Schnelle, Hege M; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R; Ellingson, Marissa S; Ferber, Matthew J; Dhamija, Radhika; Klee, Eric W; McEntagart, Meriel; Lichtenbelt, Klaske D; Kenney, Amy; Vergano, Samantha A; Abou Jamra, Rami; Platzer, Konrad; Ella Pierpont, Mary; Khattar, Divya; Hopkin, Robert J; Martin, Richard J; Jongmans, Marjolijn C J; Chang, Vivian Y; Martinez-Agosto, Julian A; Kuismin, Outi; Kurki, Mitja I; Pietiläinen, Olli; Palotie, Aarno; Maarup, Timothy J; Johnson, Diana S; Venborg Pedersen, Katja.
Afiliação
  • Konrad EDH; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Nardini N; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Caliebe A; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.
  • Nagel I; Institute of Human Genetics, Universitätsklinikum Schleswig Holstein Campus Kiel and Christian-Albrechts-Universität, Kiel, Germany.
  • Young D; Institute of Experimental and Clinical Pharmacology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Horvath G; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.
  • Santoro SL; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.
  • Shuss C; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Ziegler A; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
  • Bonneau D; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.
  • Kempers M; Département de Biochimie et Génétique, CHU Angers et Mitolab INSERM 1083-CNRS 6015, Angers, France.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Legius E; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Bouman A; Department of Human Genetics, KU Leuven and Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.
  • Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Õunap K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Wojcik MH; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Vasileiou G; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Le Guyader G; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Schnelle HM; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
  • Berland S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Zonneveld-Huijssoon E; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Kersten S; Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
  • Gupta A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Blackburn PR; Service de Génétique Clinique, CHU de Poitiers, Poitiers, France.
  • Ellingson MS; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Ferber MJ; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Dhamija R; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Klee EW; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • McEntagart M; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Lichtenbelt KD; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Kenney A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Vergano SA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Abou Jamra R; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
  • Platzer K; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Ella Pierpont M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, UK.
  • Khattar D; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Hopkin RJ; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • Martin RJ; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • Jongmans MCJ; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Chang VY; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Martinez-Agosto JA; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
  • Kuismin O; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Kurki MI; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Pietiläinen O; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Palotie A; Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
  • Maarup TJ; Division of Pediatric Hematology-Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, CA, USA.
  • Johnson DS; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA, USA.
  • Venborg Pedersen K; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Genet Med ; 21(12): 2723-2733, 2019 12.
Article em En | MEDLINE | ID: mdl-31239556
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Fator de Ligação a CCCTC Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Fator de Ligação a CCCTC Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article