Associated Papers
Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.
Terry BK et al.
Human Molecular Genetics, 2026
Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model.
Terry BK et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
WNT signalling control by KDM5C during development affects cognition.
Karwacki-Neisius V et al.
Nature, 2024
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E 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
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability.
Vallianatos CN et al.
Frontiers in Molecular Neuroscience, 2018
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.
Al-Mubarak B et al.
Scientific Reports, 2017
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
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
Fieremans N et al.
European Journal of Medical Genetics, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.
Grafodatskaya D et al.
Bmc Medical Genomics, 2013
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.
Ounap K et al.
European Journal of Medical Genetics, 2012