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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

Autor: Trajkova S; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada., Rossi Sebastiano M; Molecular Biotechnology Center 'Guido Tarone' University of Turin, 10126 Turin, Italy; Department of Molecular Biotechnology and Health Sciences, University of Turin, CASSMedChem, 10126 Turin, Italy., Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Ferrero E; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Giovenino C; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Carli D; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Marinoni R; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, Orbassano, TO 10049, Italy., Palermo F; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, Orbassano, TO 10049, Italy., Carestiato S; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Cardaropoli S; Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy., Pullano V; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy., Rinninella A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 94124 Catania, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Dimartino P; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada., Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Petlichkovski A; Department of Immunology and Human Genetics, Faculty of Medicine, University 'Sv. Kiril I Metodij', Skopje 1000, Republic of Macedonia., Pasini B; Department of Medical Sciences, University of Turin, 10126 Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Sukarova-Angelovska E; Department of Endocrinology and Genetics, Faculty of Medicine, University 'Sv. Kiril I Metodij', Skopje 1000, Republic of Macedonia., Campbell CM; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Jenkinson S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Banka S; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9WL, UK., Mussa A; Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, 10126 Turin, Italy., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10043 Turin, Italy., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada., Brusco A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy. Electronic address: alfredo.brusco@unito.it.

Publikováno v: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100309. Date of Electronic Publication: 2024 May 15.