DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

(2022) Jet van der Spek et al.   GENETICS IN MEDICINE

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

(2021) Meena Balasubramanian et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2021) Bekim Sadikovic et al.   GENETICS IN MEDICINE

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

(2021) Jérémie Courraud et al.   GENETICS IN MEDICINE

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset

(2021) Nazanin Mirza-Schreiber et al.   BRAIN

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

Behavior and cognitive functioning in Witteveen–Kolk syndrome

(2020) Linde C. M. Dongen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

(2019) Eric G. Bend et al.   Clinical Epigenetics

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

(2019) Eric Chater-Diehl et al.   BMC Medical Genomics

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

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome

(2018) Yoko Narumi-Kishimoto et al.   European Journal of Medical Genetics

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

(2016) Josefine S Witteveen et al.   NATURE GENETICS

Validation of a DNA methylation microarray for 850,000 CpG sites of the human genome enriched in enhancer sequences

(2016) Sebastian Moran et al.   Epigenomics

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

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

Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

(2013) Yi-an Chen et al.   Epigenetics

Sin3: Master scaffold and transcriptional corepressor

(2009) Adrienne Grzenda et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms