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Erfan Aref-Eshghi
Erfan Aref-Eshghi
GeneDx
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Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ...
The American Journal of Human Genetics 106 (3), 356-370, 2020
1972020
Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes
E Aref-Eshghi, DI Rodenhiser, LC Schenkel, H Lin, C Skinner, ...
The American Journal of Human Genetics 102 (1), 156-174, 2018
1442018
Diagnostic utility of genome-wide DNA methylation testing in genetically unsolved individuals with suspected hereditary conditions
E Aref-Eshghi, EG Bend, S Colaiacovo, M Caudle, R Chakrabarti, ...
The American Journal of Human Genetics 104 (4), 685-700, 2019
1412019
MALAT1: an epigenetic regulator of inflammation in diabetic retinopathy
S Biswas, AA Thomas, S Chen, E Aref-Eshghi, B Feng, J Gonder, ...
Scientific reports 8 (1), 6526, 2018
1392018
Clinical validation of copy number variant detection from targeted next-generation sequencing panels
J Kerkhof, LC Schenkel, J Reilly, S McRobbie, E Aref-Eshghi, A Stuart, ...
The Journal of Molecular Diagnostics 19 (6), 905-920, 2017
1262017
Classification of osteoarthritis phenotypes by metabolomics analysis
W Zhang, S Likhodii, Y Zhang, E Aref-Eshghi, PE Harper, E Randell, ...
BMJ open 4 (11), e006286, 2014
1232014
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
B Sadikovic, MA Levy, J Kerkhof, E Aref-Eshghi, L Schenkel, A Stuart, ...
Genetics in Medicine 23 (6), 1065-1074, 2021
1162021
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
E Aref-Eshghi, EG Bend, RL Hood, LC Schenkel, DA Carere, ...
Nature communications 9 (1), 4885, 2018
1052018
Metabolomic analysis of human plasma reveals that arginine is depleted in knee osteoarthritis patients
W Zhang, G Sun, S Likhodii, M Liu, E Aref-Eshghi, PE Harper, G Martin, ...
Osteoarthritis and cartilage 24 (5), 827-834, 2016
952016
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
E Aref-Eshghi, LC Schenkel, H Lin, C Skinner, P Ainsworth, G Paré, ...
Epigenetics 12 (11), 923-933, 2017
862017
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
EG Bend, E Aref-Eshghi, DB Everman, RC Rogers, SS Cathey, EJ Prijoles, ...
Clinical epigenetics 11, 1-17, 2019
832019
Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1
DE Martin-Herranz, E Aref-Eshghi, MJ Bonder, TM Stubbs, S Choufani, ...
Genome biology 20, 1-19, 2019
812019
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
LC Schenkel, E Aref-Eshghi, C Skinner, P Ainsworth, H Lin, G Paré, ...
Clinical epigenetics 10, 1-11, 2018
642018
A genome-wide DNA methylation signature for SETD1B-related syndrome
IM Krzyzewska, SM Maas, P Henneman, K Lip, A Venema, K Baranano, ...
Clinical epigenetics 11, 1-15, 2019
572019
Relationship between blood plasma and synovial fluid metabolite concentrations in patients with osteoarthritis
W Zhang, S Likhodii, E Aref-Eshghi, Y Zhang, PE Harper, E Randell, ...
The Journal of rheumatology 42 (5), 859-865, 2015
542015
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
A Ciolfi, E Aref-Eshghi, S Pizzi, L Pedace, E Miele, J Kerkhof, E Flex, ...
Clinical epigenetics 12, 1-11, 2020
532020
Overexpression of MMP13 in human osteoarthritic cartilage is associated with the SMAD-independent TGF-β signalling pathway
E Aref-Eshghi, M Liu, PE Harper, J Doré, G Martin, A Furey, R Green, ...
Arthritis Research & Therapy 17 (1), 1-8, 2015
532015
Genome-wide DNA methylation study of hip and knee cartilage reveals embryonic organ and skeletal system morphogenesis as major pathways involved in osteoarthritis
E Aref-Eshghi, Y Zhang, M Liu, P Harper, G Martin, A Furey, G Roger, ...
Osteoarthritis and Cartilage 23 (Supplement 2), A194, 2015
512015
DNA methylation signatures in mendelian developmental disorders as a diagnostic bridge between genotype and phenotype
B Sadikovic, E Aref-Eshghi, MA Levy, D Rodenhiser
Epigenomics 11 (5), 563-575, 2019
502019
The long non-coding RNA HOTAIR is a critical epigenetic mediator of angiogenesis in diabetic retinopathy
S Biswas, B Feng, S Chen, J Liu, E Aref-Eshghi, J Gonder, V Ngo, ...
Investigative Ophthalmology & Visual Science 62 (3), 20-20, 2021
492021
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