Associated Papers
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
Novel Variations in the KDM5C Gene Causing X-Linked Intellectual Disability.
Wu PM et al.
Neurology. Genetics, 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
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C.
Schenkel LC et al.
Clinical Epigenetics, 2018
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
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
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
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
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
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked.
Abidi F et al.
Human Genetics, 2009
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.
Abidi FE et al.
Journal of Medical Genetics, 2008
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