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International Journal of Molecular Sciences|January 27, 2021
Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield TypeSadegheh Haghshenas, Michael A Levy, Jennifer Kerkhof, et al.HGG Advances|November 21, 2024
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomaliesErfan Aref-Eshghi, Katherine J Anderson, Lauren Boulay, et al.Clinical Epigenetics|October 11, 2025
DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnosticsErfan Aref-Eshghi, Arash B Abadi, Mohammad-Erfan Farhadieh, et al.HGG Advances|July 28, 2025
De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathiesErfan Aref-Eshghi, Ingrid M Wentzensen, Tawfeg Ben-Omran, et al.Journal of Human Genetics|October 23, 2020
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern OntarioErfan Aref-Eshghi, Jennifer Kerkhof, Deana Alexis Carere, et al.The Journal of Molecular Diagnostics : JMD|August 19, 2017
Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing PanelsJennifer Kerkhof, Laila C Schenkel, Jack Reilly, et al.American Journal of Human Genetics|January 6, 2018
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental SyndromesErfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, et al.Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.Clinical Epigenetics|January 9, 2020
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signatureAndrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, et al.Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.Pageof 6