Associated Papers
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N et al.
Epigenomics, 2023
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM2_ESM.xlsx › Validation
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