Associated Papers
A novel KDM5C variant corrects a previously erroneous diagnosis.
Chapin J et al.
European Journal of Medical Genetics, 2025
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S et al.
Hgg Advances, 2024
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Giovenino C et al.
European Journal of Human Genetics : Ejhg, 2023
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.
Lintas C et al.
Genes, 2022
Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes-Jensen syndrome.
Hatch HAM et al.
The Febs Journal, 2022
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC et al.
Bmc Neurology, 2021
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Carmignac V et al.
Clinical Genetics, 2020
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
Cofactors-loaded quaternary structure of lysine-specific demethylase 5C (KDM5C) protein: Computational model.
Peng Y et al.
Proteins, 2016
Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease.
Peng Y et al.
International Journal of Molecular Sciences, 2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Brookes E et al.
Human Molecular Genetics, 2015
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature.
Gonçalves TF et al.
European Journal of Medical Genetics, 2014
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
Rujirabanjerd S et al.
European Journal of Human Genetics : Ejhg, 2010
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD).
Adegbola A et al.
American Journal of Medical Genetics. Part A, 2008
The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.
Tahiliani M et al.
Nature, 2007
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Tzschach A et al.
Human Mutation, 2006
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Jensen LR et al.
American Journal of Human Genetics, 2005