Associated Papers
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Vos N et al.
Epigenomics, 2023
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
St John M et al.
American Journal of Medical Genetics. Part A, 2022
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
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