DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

Phenotypic expansion and variable expressivity in individuals with JARID2 ‐related intellectual disability: A case series

(2022) Maxime Cadieux‐Dion et al.   CLINICAL GENETICS

JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications

(2021) Vignesh Kasinath et al.   SCIENCE

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

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome

(2020) Eline A. Verberne et al.   GENETICS IN MEDICINE

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

DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype

(2019) Bekim Sadikovic et al.   Epigenomics

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

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

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

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

(2018) Erfan Aref-Eshghi et al.   Nature Communications

A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

(2018) Myriam Vezain et al.   Acta Neuropathologica Communications

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

(2017) Erfan Aref-Eshghi et al.   Epigenetics

Functional significance of rare neuroligin 1 variants found in autism

(2017) Moe Nakanishi et al.   PLoS Genetics

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

(2016) Laila C. Schenkel et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

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

(2014) Martin J. Aryee et al.   BIOINFORMATICS

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

(2013) Tuva Barøy et al.   Orphanet Journal of Rare Diseases

DNA methylation arrays as surrogate measures of cell mixture distribution

(2012) Eugene Houseman et al.   BMC BIOINFORMATICS

Jarid2 (Jumonji, AT Rich Interactive Domain 2) RegulatesNOTCH1Expression via Histone Modification in the Developing Heart

(2011) Matthew R. Mysliwiec et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Jarid2 and PRC2, partners in regulating gene expression

(2010) G. Li et al.   GENES & DEVELOPMENT

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells

(2010) Diego Pasini et al.   NATURE