Associated Papers
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.
Haghshenas S et al.
International Journal of Molecular Sciences, 2021
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR et al.
Nature Communications, 2020
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