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Array-based DNA methylation analysis in blood from patients with Snijders Blok–Campeau syndrome (CHD3)

DNA methylation array data generated using the Illumina Infinium MethylationEPIC BeadChip (v1.0 and v2.0) from whole-blood DNA of patients with Snijders Blok–Campeau syndrome (ORPHA:599082). Raw IDAT files were generated to identify differentially methylated regions in typical and atypical patients.

Type: Epigenetics
Archiver: European Genome-phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00010002823	Peripheral blood DNA	EPIC Illumina arrays	19

Publications	Citations
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. Santini A, Tognon A, Richard AC, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva JM, Ballesta-Martinez MJ, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Le Guillou X, Le Tanno P, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Paulet A, Yeung A, Levy J, Ruscitti F, Pias-Peleteiro L, Rio M, Courtin T, Abdallah HH, Ducreux S, Laloy JS, Rollier P, Guerrot AM, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Lecoquierre F, Nicolas G, Coussement A, Collet C, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. Genome Med 18: 2026 39	0

Publications

Citations

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.
Santini A, Tognon A, Richard AC, Velasco G, Phan G, Marzin P, Maury F, May A, Michot C, Chirita-Emandi A, Saraiva JM, Ballesta-Martinez MJ, Lyonnet S, Sansović I, Barakat TS, Brunelle P, Ghoumid J, Le Guillou X, Le Tanno P, Willems M, Zenker M, Schanze I, Moortgat S, Isidor B, Paulet A, Yeung A, Levy J, Ruscitti F, Pias-Peleteiro L, Rio M, Courtin T, Abdallah HH, Ducreux S, Laloy JS, Rollier P, Guerrot AM, Chatron N, Demurger F, Goldenberg A, Delanne J, Faivre L, Lecoquierre F, Nicolas G, Coussement A, Collet C, Herenger Y, Defrance M, Cormier-Daire V, Charbonnier C, de Dieuleveult M. Genome Med 18: 2026 39