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
Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.
Cao F et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.
Jo S et al.
Clinical Genetics, 2025
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 and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
Diets IJ et al.
American Journal of Human Genetics, 2019
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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