Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford
This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.
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