| 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 | 205 | 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 | 146 | 2019 |
| 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 | 122 | 2021 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 100 | 2022 |
| 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 | 87 | 2019 |
| ATRX promotes gene expression by facilitating transcriptional elongation through guanine-rich coding regions MA Levy, KD Kernohan, Y Jiang, NG Bérubé Human molecular genetics 24 (7), 1824-1835, 2015 | 87 | 2015 |
| Neuronal death resulting from targeted disruption of the Snf2 protein ATRX is mediated by p53 C Seah, MA Levy, Y Jiang, S Mokhtarzada, DR Higgs, RJ Gibbons, ... Journal of Neuroscience 28 (47), 12570-12580, 2008 | 70 | 2008 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 61 | 2021 |
| 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 | 51 | 2019 |
| DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ... Clinical epigenetics 13, 1-17, 2021 | 36 | 2021 |
| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 30 | 2022 |
| DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies J Kerkhof, GM Squeo, H McConkey, MA Levy, MR Piemontese, M Castori, ... Genetics in Medicine 24 (1), 51-60, 2022 | 30 | 2022 |
| Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders B Sadikovic, MA Levy, E Aref-Eshghi Human molecular genetics 29 (R1), R27-R32, 2020 | 29 | 2020 |
| The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome MA Levy, AD Fernandes, DC Tremblay, C Seah, NG Bérubé BMC genomics 9, 1-14, 2008 | 26 | 2008 |
| Implementation of an NGS‐based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies MA Levy, S Santos, J Kerkhof, A Stuart, E Aref‐Eshghi, F Guo, B Hedley, ... European journal of haematology 103 (3), 178-189, 2019 | 25 | 2019 |
| CTCF governs the identity and migration of MGE-derived cortical interneurons A Elbert, D Vogt, A Watson, M Levy, Y Jiang, E Brûlé, ME Rowland, ... Journal of Neuroscience 39 (1), 177-192, 2019 | 25 | 2019 |
| Activating transcription factor 3 promotes loss of the acinar cell phenotype in response to cerulein-induced pancreatitis in mice EN Fazio, CC Young, J Toma, M Levy, KR Berger, CL Johnson, ... Molecular Biology of the Cell 28 (18), 2347-2359, 2017 | 25 | 2017 |
| Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients M Volodarsky, J Kerkhof, A Stuart, M Levy, LI Brady, M Tarnopolsky, H Lin, ... Journal of Medical Genetics 58 (4), 284-288, 2021 | 23 | 2021 |
| SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ... Genetics in medicine 24 (6), 1261-1273, 2022 | 20 | 2022 |
| Identification of a DNA methylation episignature in the 22q11. 2 deletion syndrome K Rooney, MA Levy, S Haghshenas, J Kerkhof, D Rogaia, MG Tedesco, ... International Journal of Molecular Sciences 22 (16), 8611, 2021 | 18 | 2021 |
