Pathogenic KDM5B variants in the context of developmental disorders
Author:
Publisher
Elsevier BV
Subject
Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics
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1. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes;Nature Communications;2024-07-12
2. KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons;Nucleic Acids Research;2024-04-10
3. KDM5-mediated activation of genes required for mitochondrial biology is necessary for viability in Drosophila;Development;2023-11-01
4. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene;PLOS ONE;2023-10-03
5. Ultra-rarede novodamaging coding variants are enriched in attention-deficit/hyperactivity disorder and identify risk genes;2023-05-25
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