DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

2020/04/02 by Sanaa Choufani, William T. Gibson, Andrei L. Turinsky +41 · 25 citations
Biochemistry, Genetics and Molecular Biology · #Epigenetics and DNA Methylation #RNA modifications and cancer #Genetic Syndromes and Imprinting

paper · pdf · doi:10.1016/j.ajhg.2020.03.008

Cited by

• The phenomenal epigenome in neurodevelopmental disorders. [europepmc]
• Alterations to DNMT3A in Hematologic Malignancies. [europepmc]
• Epigenome-wide meta-analysis of DNA methylation differences in prefrontal cortex implicates the immune processes in Alzheimer's disease. [europepmc]
• The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective. [europepmc]
• Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders. [europepmc]
• Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type. [europepmc]
• Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders. [europepmc]
• Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. [europepmc]
• Chromatin Remodeling in the Brain-a NuRD evelopmental Odyssey. [europepmc]
• Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. [europepmc]
• Anatomy of DNA methylation signatures: Emerging insights and applications. [europepmc]
• Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions. [europepmc]
• Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood. [europepmc]
• DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. [europepmc]
• X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. [europepmc]
• Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics. [europepmc]
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. [europepmc]
• Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here? [europepmc]
• DNA methylation signatures for chromatinopathies: current challenges and future applications. [europepmc]
• SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. [europepmc]
• The omics era: a nexus of untapped potential for Mendelian chromatinopathies. [europepmc]
• Episignature analysis of moderate effects and mosaics. [europepmc]
• A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition. [europepmc]
• Mechanisms of DNA Methylation Regulatory Function and Crosstalk with Histone Lysine Methylation. [europepmc]
• Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. [europepmc]