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
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.
Mayfield JM et al.
The Journal of Biological Chemistry, 2024
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG et al.
American Journal of Human Genetics, 2024
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Epigenetic Etiology of Intellectual Disability.
Iwase S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
Chong JX et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factors.
Pilotto S et al.
Human Molecular Genetics, 2016
Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.
Vallianatos CN et al.
Epigenomics, 2015
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S et al.
American Journal of Medical Genetics. Part A, 2014
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