Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
- Levy M. A.
- Relator R.
- McConkey H.
- Pranckeviciene E.
- Kerkhof J.
- Barat-Houari M.
- Bargiacchi S.
- Biamino E.
- Palomares Bralo M.
- Cappuccio G.
- Ciolfi A.
- Clarke A.
- DuPont B. R.
- Elting M. W.
- Faivre L.
- Fee T.
- Ferilli M.
- Fletcher R. S.
- Cherick F.
- Foroutan A.
- Friez M. J.
- Gervasini C.
- Haghshenas S.
- Hilton B. A.
- Jenkins Z.
- Kaur S.
- Lewis S.
- Louie R. J.
- Maitz S.
- Milani D.
- Morgan A. T.
- Oegema R.
- Ostergaard E.
- Pallares N. R.
- Piccione M.
- Plomp A. S.
- Poulton C.
- Reilly J.
- Rius R.
- Robertson S.
- Rooney K.
- Rousseau J.
- Santen G. W. E.
- Santos-Simarro F.
- Schijns J.
- Squeo G. M.
- John M. S.
- Thauvin-Robinet C.
- Traficante G.
- van der Sluijs P. J.
- Vergano S. A.
- Vos N.
- Walden K. K.
- Azmanov D.
- Balci T. B.
- Banka S.
- Gecz J.
- Henneman P.
- Lee J. A.
- Mannens M. M. A. M.
- Roscioli T.
- Siu V.
- Amor D. J.
- Baynam G.
- Bend E. G.
- Boycott K.
- Brunetti-Pierri N.
- Campeau P. M.
- Campion D.
- Christodoulou J.
- Dyment D.
- Esber N.
- Fahrner J. A.
- Fleming M. D.
- Genevieve D.
- Heron D.
- Husson T.
- Kernohan K. D.
- McNeill A.
- Menke L. A.
- Merla G.
- Prontera P.
- Rockman-Greenberg C.
- Schwartz C.
- Skinner S. A.
- Stevenson R. E.
- Vincent M.
- Vitobello A.
- Tartaglia M.
- Alders M.
- Tedder M. L.
- Sadikovic B.
DOIAbstract
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 disorder-specific and recurring genome-wide diffe...
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