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DNA methylation episignature in Gabriele-de Vries syndrome.

Autor: Cherik F; Department of Medical Genetics, Reference Centre for Rare Diseases, Developmental Anomalies and Malformation Syndromes Sud-Est, Clermont-Ferrand University Hospital, Clermont-Ferrand, France., Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences and Saint Joseph's Healthcare, London, Ontario, Canada., Levy M; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences and Saint Joseph's Healthcare, London, Ontario, Canada., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences and Saint Joseph's Healthcare, London, Ontario, Canada., Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Butler KM; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC., Coubes C; Medical Genetic Department for Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France., Lee JA; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC., Le Guyader G; Clinical Genetics Department, Poitiers University Hospital, Poitiers, France., Louie RJ; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC., Patterson WG; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC., Tedder ML; Greenwood Genetic Center, JC Self Research Institute of Human Genetics, Greenwood, SC., Bak M; Clinical genetic department, Righospitalet, Copenhagen, Denmark., Hammer TB; Clinical genetic department, Righospitalet, Copenhagen, Denmark; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Démurger F; Medical Genetics Department, Bretagne-Atlantique Hospital, Vannes, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Fradin M; Department of Clinical Genetics, Reference Centre for Rare Diseases, CLAD Ouest, Rennes University Hospital, Rennes, France., Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Frengen E; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego, San Diego, CA; Division of Neurology, Rady Children's Hospital, San Diego, CA; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA., Palares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy., Misceo D; Department of Medical Genetics, Oslo University Hospitals and University of Oslo, Oslo, Norway., Monin P; Department of Medical Genetics, Women Mother Children Hospital, Hospices Civils de Lyon, Lyon, France., Odent S; Department of Medical Genetics, Reference Center for Developmental Anomalies, CLAD Ouest, Rennes University Hospital, ERN ITHACA, CNRS UMR 6290, Genetics and Development Institute, Rennes University, Rennes, France., Philippe C; Functional Unit of Innovative Diagnosis for Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France., Rouxel F; Medical Genetic Department for Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital, and University of Oslo, Oslo, Norway., Thulin PC; Department of Neurology, University of Utah, Salt Lake City, UT., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences and Saint Joseph's Healthcare, London, Ontario, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Genevieve D; Medical Genetic Department for Rare Diseases and Personalized Medicine, Montpellier University Hospital, Montpellier, France. Electronic address: d-genevieve@chu-montpellier.fr.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 905-914. Date of Electronic Publication: 2022 Jan 10.