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

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第一作者: Slavica,Trajkova
第一单位: Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy.
作者单位: Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin 10126, Italy. [1] Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada. [2] 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. [3] Department of Medical Sciences, University of Turin, 10126 Turin, Italy. [4] Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy. [5] Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, Orbassano, TO 10049, Italy. [6] Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy. [7] 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. [8] Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. [9] IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy. [10] Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy. [11] Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. [12] Department of Immunology and Human Genetics, Faculty of Medicine, University "Sv. Kiril I Metodij", Skopje 1000, Republic of Macedonia. [13] Department of Medical Sciences, University of Turin, 10126 Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy. [14] Department of Endocrinology and Genetics, Faculty of Medicine, University "Sv. Kiril I Metodij", Skopje 1000, Republic of Macedonia. [15] Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. [16] 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. [17] Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, 10126 Turin, Italy. [18] Department of Clinical and Biological Sciences, University of Turin, 10043 Turin, Italy. [19] 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. [20]
DOI 10.1016/j.xhgg.2024.100309
PMID 38751117
发布时间 2024-07-19
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HGG advances

HGG advances

2024年5卷3期

100309页

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