Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

MA Levy; R Relator; H McConkey; E Pranckeviciene; J Kerkhof; M Barat-Houari; S Bargiacchi; E Biamino; M Palomares Bralo; G Cappuccio; A Ciolfi; A Clarke; BR DuPont; MW Elting; L Faivre; T Fee; M Ferilli; RS Fletcher; F Cherick; A Foroutan; MJ Friez; C Gervasini; S Haghshenas; BA Hilton; Z Jenkins; S Kaur; S Lewis; RJ Louie; S Maitz; D Milani; AT Morgan; R Oegema; E Østergaard; NR Pallares; M Piccione; AS Plomp; C Poulton; J Reilly; R Rius; S Robertson; K Rooney; J Rousseau; GWE Santen; F Santos-Simarro; J Schijns; GM Squeo; MS John; C Thauvin-Robinet; G Traficante; PJ van der Sluijs; SA Vergano; N Vos; KK Walden; D Azmanov; TB Balci; S Banka; J Gecz; P Henneman; JA Lee; MMAM Mannens; T Roscioli; V Siu; DJ Amor; G Baynam; EG Bend; K Boycott; N Brunetti-Pierri; PM Campeau; D Campion; J Christodoulou; D Dyment; N Esber; JA Fahrner; MD Fleming; D Genevieve; D Heron; T Husson; KD Kernohan; A McNeill; LA Menke; G Merla; P Prontera; C Rockman-Greenberg; C Schwartz; SA Skinner; RE Stevenson; M Vincent; A Vitobello; M Tartaglia; M Alders; ML Tedder; B Sadikovic

Journal article

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, M Barat-Houari, S Bargiacchi, E Biamino, M Palomares Bralo, G Cappuccio, A Ciolfi, A Clarke, BR DuPont, MW Elting, L Faivre, T Fee, M Ferilli, RS Fletcher, F Cherick, A Foroutan Show all

Human Mutation | Published : 2022

DOI: 10.1002/humu.24446

Abstract

An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of..

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University of Melbourne Researchers

Simranpreet Kaur Author

Angela Morgan Author

Rocio Rius Author

David Amor Author

Grants

Awarded by Genome Canada

Funding Acknowledgements

Government of Canada, Grant/Award Number: Genome Canada and the Ontario Genomics Institute; Victorian Government, Grant/Award Number: Operational Infrastructure Support Program; South Carolina Department of Disabilities and Special Needs; Royal Children's Hospital Foundation, Grant/Award Number: Chair in Genomic Medicine awarded to JC; London Health Sciences Centre, Grant/Award Number: Molecular Diagnostics Development Fund; Italian Ministry of Research, Grant/Award Number: FOE 2019; Italian Ministry of Health, Grant/Award Numbers: 5x1000, CCR-2017-23669081, RCR-202023670068_001