Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

(2019) Toshiyuki Yamamoto et al.   BRAIN & DEVELOPMENT

Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C

(2018) Laila C. Schenkel et al.   Clinical Epigenetics

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

(2018) Christina N. Vallianatos et al.   Frontiers in Molecular Neuroscience

Physiological effects of KDM5C on neural crest migration and eye formation during vertebrate development

(2018) Youni Kim et al.   Epigenetics & Chromatin

Loss of Kdm5c Causes Spurious Transcription and Prevents the Fine-Tuning of Activity-Regulated Enhancers in Neurons

(2017) Marilyn Scandaglia et al.   Cell Reports

Different X-linkedKDM5Cmutations in affected male siblings: is maternal reversion error involved?

(2016) A. Fujita et al.   CLINICAL GENETICS

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a

(2016) Yi-Xi Sun et al.   HUMAN GENETICS

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

(2016) Nathalie Fieremans et al.   HUMAN MUTATION

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

(2016) Chloé Saunier et al.   HUMAN MUTATION

A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation

(2016) Shigeki Iwase et al.   Cell Reports

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders

(2015) Ching Moey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

(2015) Nathalie Fieremans et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity

(2015) Emily Brookes et al.   HUMAN MOLECULAR GENETICS

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

(2015) G McMichael et al.   MOLECULAR PSYCHIATRY

KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature

(2014) Thainá Fernandez Gonçalves et al.   European Journal of Medical Genetics

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

(2014) Nathalie Fieremans et al.   HUMAN GENETICS

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

(2013) Daria Grafodatskaya et al.   BMC Medical Genomics

Histone-Methyltransferase MLL2 (KMT2B) Is Required for Memory Formation in Mice

(2013) C. Kerimoglu et al.   JOURNAL OF NEUROSCIENCE

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

(2012) Katrin Õunap et al.   European Journal of Medical Genetics

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

(2011) Cíntia B. Santos-Rebouças et al.   NEUROSCIENCE LETTERS

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation

(2009) Sinitdhorn Rujirabanjerd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus

(2008) N. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA