Associated Papers
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
35163737 (PubMed )
Supplement: ijms-23-01815-s001.zip › ijms-1541287-supplementary_materials › Supplementary_Files › Table_S1.xlsx › Sheet2
Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.
Sadikovic B et al.
Human Molecular Genetics, 2020
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Aref-Eshghi E et al.
Epigenetics, 2017
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