European journal of human genetics : EJHG
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.
Tinatin Tkemladze, Christopher Campbell, Kakha Bregvadze, Eka Kvaratskhelia, Elene Abzianidze, Leigh Demain, Sarah Jenkinson, Sarah Hilton, Michael Levy, Jennifer Kerkhof, David Gokhale, Bekim Sadikovic, Siddharth Banka
Published: 202510.1038/s41431-025-01939-1
Abstract
DNA methylation (DNAm) episignature analysis is an emerging tool for diagnosing individuals with neurodevelopmental disorders, congenital anomalies, and growth disorders. We evaluated its clinical utility as a first-tier test in 62 individuals withou…
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