Erfan Aref‐Eshghi

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

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

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

Erfan Aref‐Eshghi, Eric G. Bend, Samantha Colaiacovo et al. · The American Journal of Human Genetics · 2019 · 190 citations · Full text

Genetic Testing, Diagnostic Utility, Medicine +9

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

Bekim Sadiković, Michael A. Levy, Jennifer Kerkhof et al. · Genetics in Medicine · 2021 · 190 citations · Full text

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

Erfan Aref‐Eshghi, David I. Rodenhiser, Laila C. Schenkel et al. · The American Journal of Human Genetics · 2018 · 173 citations · Full text

Neurodevelopmental Disorders, Genetic Disorder, Epigenetic Change +11

MALAT1: An Epigenetic Regulator of Inflammation in Diabetic Retinopathy

Saumik Biswas, Anu Thomas, Shali Chen et al. · Scientific Reports · 2018 · 155 citations · Full text