David I. Rodenhiser

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

CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site

Debora N Mancini, David I. Rodenhiser, Peter Ainsworth et al. · Oncogene · 1998 · 191 citations

Chromatin, Medicine, Genetics +13

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

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

Site-specific DNA methylation in the neurofibromatosis (NF1) promoter interferes with binding of CREB and SP1 transcription factors

Debora N Mancini, Shiva M Singh, Trevor Archer et al. · Oncogene · 1999 · 130 citations

Chromatin, Transcriptional Regulation, Site-specific Dna Methylation +13