| 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 | 213 | 2020 |
| 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 | 152 | 2019 |
| 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 | 151 | 2018 |
| 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 | 141 | 2018 |
| 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 | 130 | 2021 |
| 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 | 127 | 2014 |
| 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 | 126 | 2017 |
| 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 | 111 | 2018 |
| 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 | 96 | 2016 |
| 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 | 92 | 2017 |
| 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 | 89 | 2019 |
| 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 | 84 | 2019 |
| 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 | 64 | 2018 |
| 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 | 60 | 2019 |
| 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 | 56 | 2015 |
| 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 | 55 | 2015 |
| 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 | 54 | 2020 |
| 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 | 54 | 2019 |
| 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 | 52 | 2015 |
| 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 | 51 | 2021 |
bekim sadikovicProfessor, Pathology and Lab Medicine, Western University在 lhsc.on.ca 的电子邮件经过验证
