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DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

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作者单位: Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada. [1] Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy. [2] Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy. [3] Medical Genetics Service, Hospital "Cardinale G. Panico", Tricase, Lecce, Italy. [4] Department of Pediatrics, University of Turin, Italy. [5] Medical Genetics Unit, Cardarelli Hospital, Largo A Cardarelli, Napoli, Italy. [6] UOC Anatomia Patologica, AOR "San Carlo", Hospital Potenza, Italy. [7] Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy. [8] Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy. [9] Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy. [10] Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. [11] Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy. [12] Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy. [13] Pediatric Department, ASST Lariana, Sant'Anna General Hospital, Como, Italy. [14] Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Canada; Department of Pathology and Laboratory Medicine, Western University, London, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca. [15] Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy. Electronic address: giuseppe.merla@unina.it. [16]
DOI 10.1016/j.gim.2021.08.007
PMID 34906459
发布时间 2022-03-22
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Genetics in medicine : official journal of the American College of Medical Genetics

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