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DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani, Sanaa; Gibson, William T; Turinsky, Andrei L; Chung, Brian H Y; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana S A; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M; Lynch, Sally Ann; Clericuzio, Carol; Temple, I Karen; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna.
Afiliación
  • Choufani S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Turinsky AL; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Chung BHY; Pediatrics and Adolescent Medicine, Queen Mary Hospital and Hong Kong Children's Hospital, The University of Hong Kong, 999077 Hong Kong.
  • Wang T; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Garg K; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Vitriolo A; Department of Oncology and Hemato-oncology, University of Milan, Milan 20122, Italy; Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan 20139, Italy.
  • Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Cyrus S; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Goodman S; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Chater-Diehl E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Brzezinski J; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Haematology and Oncology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Brudno M; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 3H5, Canada.
  • Ming LH; Clinical Genetic Service, Department of Health, 999077 Hong Kong.
  • White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, D01 XD99, Ireland.
  • Clericuzio C; Pediatric Genetics, University of New Mexico, Albuquerque, NM 87131, USA.
  • Temple IK; Faculty of Medicine, University of Southampton and the Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
  • Flinter F; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.
  • Cushing T; Pediatric Genetics, University of New Mexico, Albuquerque, NM 87131, USA.
  • Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.
  • Splitt M; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne NE1 3BZ, UK.
  • Kerr B; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK.
  • Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1X8 Canada; McLaughlin Centre, University o
  • Machado J; PreventionGenetics, Marshfield, WI 54449, USA.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka 594-1101, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
  • Testa G; Department of Oncology and Hemato-oncology, University of Milan, Milan 20122, Italy; Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan 20139, Italy; Human Technopole, Center for Neurogenomics, Via Cristina Belgioioso 171, Milan 20157, Italy.
  • Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Piazza OMS 1, 24127 Bergamo, Italy.
  • Tenconi R; Dipartimento Pediatria, University of Padova, Via Giustiani 3, 35128 Padova, Italy.
  • Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; The Stollery Pediatric Hospital, Edmonton, AB T6G 2H7, Canada.
  • Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.
  • Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada.
  • Cytrynbaum C; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.
  • Tatton-Brown K; St George's University Hospitals NHS Foundation Trust, London SW17 0QT, UK; St George's, University of London, London SW17 0RE, UK; Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.
  • Weksberg R; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Ge
Am J Hum Genet ; 106(5): 596-610, 2020 05 07.
Article en En | MEDLINE | ID: mdl-32243864
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Metilación de ADN / Hipotiroidismo Congénito / Complejo Represivo Polycomb 2 / Proteína Potenciadora del Homólogo Zeste 2 / Discapacidad Intelectual / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Metilación de ADN / Hipotiroidismo Congénito / Complejo Represivo Polycomb 2 / Proteína Potenciadora del Homólogo Zeste 2 / Discapacidad Intelectual / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2020 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos