Associated Papers
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN et al.
American Journal of Human Genetics, 2026
41468891 (PubMed )
Supplement: mmc2.xlsx › S7_KDM_genes_literature
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.
van Oirsouw ASE et al.
Human Molecular Genetics, 2025
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
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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