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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.
Afiliación
  • Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • McNiven V; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada.
  • Cytrynbaum C; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.
  • Jangjoo M; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA.
  • Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland.
  • Harris J; Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.
  • Graham GE; Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
  • Nezarati MM; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada.
  • Aul RB; Mackenzie Health, Richmond Hill, ON L4C 4Z3, Canada.
  • Castiglioni C; Departmento de Neurologica Pediatrica, Clinica Las Condes, Santiago 7591046, Chile.
  • Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.
  • Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.
  • Stewart H; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford OX3 7HE, UK.
  • Banos-Pinero B; Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
  • Mehta S; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.
  • Sandford R; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.
  • Dunn C; Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK.
  • Mathevet R; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.
  • van Maldergem L; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.
  • Piard J; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.
  • Brischoux-Boucher E; Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France.
  • Vitobello A; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier
  • Faivre L; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FH
  • Bournez M; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FH
  • Tran-Mau F; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier
  • Maystadt I; Département de Génétique Clinique, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium.
  • Fernández-Jaén A; Department of. Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid 28224, Spain.
  • Alvarez S; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain.
  • García-Prieto ID; Genonics and Medicine, NIMGenetics, Madrid 28108, Spain.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Center of Excellence for Biomedicine, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia.
  • Rahbeeni Z; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • El-Akouri K; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar.
  • Al-Mureikhi M; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar.
  • Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA.
  • Shashi V; Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA.
  • Sanchez-Lara PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Graham JM; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
  • Roberts A; Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Chorin O; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA.
  • Evrony GD; Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA.
  • Kraatari-Tiri M; PEDEGO Research Unit, Medical Research Centre and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Oulu 90220, Finland.
  • Dudding-Byth T; The University of Newcastle, Newcastle 2308, Australia.
  • Richardson A; Faculty of Medicine, Department of Pediatrics, BC Children's Hospital and the University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Hunt D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
  • Hamilton L; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Dyack S; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada.
  • Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente Oakland, 3505 Broadway, Oakland, CA 94611, USA.
Am J Hum Genet ; 109(10): 1867-1884, 2022 10 06.
Article en En | MEDLINE | ID: mdl-36130591
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Metilación de ADN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Metilación de ADN / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Canadá