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Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.

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Title: Contribution of DNA methylation profiling to the reclassification of a variant of uncertain significance in the KDM5C gene.
Authors: Coursimault J; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Nicolas G; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Saugier-Veber P; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Coutant S; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France., Vincent A; Reference Centre for Learning Disorders, Rouen University Hospital, F-76031 Rouen Cedex, France; Department of Neonatology and Paediatric Intensive Care, Rouen University Hospital, F-76031 Cedex, France., Pouliquen D; Service de Neurologie, CHU Rouen, France., Feltin C; Institut de Psychiatrie - Centre Hospitalier du Rouvray, Sotteville-lès-Rouen, France., Aref-Eshghi E; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada., Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France. Electronic address: francois.lecoquierre@chu-rouen.fr.
Source: European journal of medical genetics [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104556. Date of Electronic Publication: 2022 Jul 01.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Coursimault+J%22">Coursimault J</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Nicolas+G%22">Nicolas G</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Saugier-Veber+P%22">Saugier-Veber P</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Coutant+S%22">Coutant S</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Vincent+A%22">Vincent A</searchLink>; Reference Centre for Learning Disorders, Rouen University Hospital, F-76031 Rouen Cedex, France; Department of Neonatology and Paediatric Intensive Care, Rouen University Hospital, F-76031 Cedex, France.<br /><searchLink fieldCode="AU" term="%22Pouliquen+D%22">Pouliquen D</searchLink>; Service de Neurologie, CHU Rouen, France.<br /><searchLink fieldCode="AU" term="%22Feltin+C%22">Feltin C</searchLink>; Institut de Psychiatrie - Centre Hospitalier du Rouvray, Sotteville-lès-Rouen, France.<br /><searchLink fieldCode="AU" term="%22Aref-Eshghi+E%22">Aref-Eshghi E</searchLink>; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Lecoquierre+F%22">Lecoquierre F</searchLink>; Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, F-76000, Rouen, France. Electronic address: francois.lecoquierre@chu-rouen.fr.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2022 Sep; Vol. 65 (9), pp. 104556. <i>Date of Electronic Publication: </i>2022 Jul 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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              Text: 2022 Sep
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