CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

(2020) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe childhood speech disorder

(2020) Michael S. Hildebrand et al.   NEUROLOGY

CDK13 cooperates with CDK12 to control global RNA polymerase II processivity

(2020) Zheng Fan et al.   Science Advances

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders

(2020) Bekim Sadikovic et al.   HUMAN MOLECULAR GENETICS

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

(2018) W.M.R. van den Akker et al.   CLINICAL GENETICS

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

(2018) Tomoko Uehara et al.   European Journal of Medical Genetics

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism

(2018) Yanjie Fan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous mutations affecting the protein kinase domain ofCDK13cause a syndromic form of developmental delay and intellectual disability

(2017) Mark J Hamilton et al.   JOURNAL OF MEDICAL GENETICS

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

(2017) Bret L. Bostwick et al.   Genome Medicine

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

(2016) Alejandro Sifrim et al.   NATURE GENETICS

Structural and Functional Analysis of the Cdk13/Cyclin K Complex

(2016) Ann Katrin Greifenberg et al.   Cell Reports

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Minfi: a flexible and comprehensive Bioconductor package for the analysis of Infinium DNA methylation microarrays

(2014) Martin J. Aryee et al.   BIOINFORMATICS

The Cyclin K/Cdk12 complex maintains genomic stability via regulation of expression of DNA damage response genes

(2011) D. Blazek et al.   GENES & DEVELOPMENT

CDK13, a New Potential Human Immunodeficiency Virus Type 1 Inhibitory Factor Regulating Viral mRNA Splicing

(2008) R. Berro et al.   JOURNAL OF VIROLOGY

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH