| DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration A Vig, JA Poulter, D Ottaviani, E Tavares, K Toropova, AM Tracewska, ... Genetics in Medicine 22 (12), 2041-2051, 2020 | 45 | 2020 |
| Biomarkers of agitation and aggression in Alzheimer's disease: a systematic review M Ruthirakuhan, KL Lanctôt, M Di Scipio, M Ahmed, N Herrmann Alzheimer's & Dementia 14 (10), 1344-1376, 2018 | 43 | 2018 |
| Phenotype driven analysis of whole genome sequencing identifies deep intronic variants that cause retinal dystrophies by aberrant exonization M Di Scipio, E Tavares, S Deshmukh, I Audo, K Green-Sanderson, ... Investigative ophthalmology & visual science 61 (10), 36-36, 2020 | 25 | 2020 |
| Comparative natural history of visual function from patients with biallelic variants in BBS1 and BBS10 MKG Pechhacker, SG Jacobson, AV Drack, M Di Scipio, I Strubbe, ... Investigative ophthalmology & visual science 62 (15), 26-26, 2021 | 18 | 2021 |
| CDC42 regulates the expression of superficial zone molecules in part through the actin cytoskeleton and myocardin‐related transcription factor‐A E Delve, J Parreno, V Co, PH Wu, J Chong, M Di Scipio, RA Kandel Journal of Orthopaedic Research® 36 (9), 2421-2430, 2018 | 18 | 2018 |
| The genetics of tuberous sclerosis complex and related mTORopathies: current understanding and future directions A Man, M Di Scipio, S Grewal, Y Suk, E Trinari, R Ejaz, R Whitney Genes 15 (3), 332, 2024 | 12 | 2024 |
| What causes premature coronary artery disease? A Le, H Peng, D Golinsky, M Di Scipio, R Lali, G Paré Current Atherosclerosis Reports 26 (6), 189-203, 2024 | 10 | 2024 |
| A versatile, fast and unbiased method for estimation of gene-by-environment interaction effects on biobank-scale datasets M Di Scipio, M Khan, S Mao, M Chong, C Judge, N Pathan, N Perrot, ... Nature Communications 14 (1), 5196, 2023 | 10 | 2023 |
| A method to estimate the contribution of rare coding variants to complex trait heritability N Pathan, WQ Deng, M Di Scipio, M Khan, S Mao, RW Morton, R Lali, ... Nature Communications 15 (1), 1245, 2024 | 6 | 2024 |
| Genetic determinants of vascular dementia N Pathan, MK Kharod, S Nawab, M Di Scipio, G Paré, M Chong Canadian Journal of Cardiology, 2024 | 5 | 2024 |
| CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency MK Grudzinska Pechhacker, M Di Scipio, A Vig, A Tumber, N Roslin, ... Ophthalmic Genetics 41 (5), 457-464, 2020 | 4 | 2020 |
| Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa A Dvaladze, E Tavares, M Di Scipio, G Nimmo, ... Clinical Genetics 102 (6), 524-529, 2022 | 3 | 2022 |
| COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage S Tabbarah, E Tavares, J Charish, A Vincent, A Paterson, M Di Scipio, ... Scientific Reports 10 (1), 21269, 2020 | 3 | 2020 |
| Diagnosis of TET3‐Related Beck–Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature A Man, M Di Scipio, H McConkey, R Hough, N Stein, E Diehl, CR Marshall, ... American Journal of Medical Genetics Part A 197 (2), e63864, 2025 | | 2025 |
| Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication R Adele, R Hussein, E Tavares, K Ahmed, M Di Scipio, J Charish, M Liang, ... JCI insight 9 (23), e178768, 2024 | | 2024 |
| Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members A Man, M Di Scipio, B Dale, PT Marques, CS Birbeck, P Jain, E Trinari, ... Pediatric Neurology 161, 158-161, 2024 | | 2024 |
| P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype A Man, M Di Scipio, R Hough, H McConkey, E Diehl, C Marshall, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Contribution of rare coding variants to complex trait heritability N Pathan, WQ Deng, M Khan, M Di Scipio, S Mao, RW Morton, R Lali, ... | | 2022 |
| A Versatile, Fast, and Unbiased Method for Estimation of Gene-by-environment Interaction Effects on Biobank-Scale Datasets M Di Scipio, M Khan, S Mao, M Chong, N Pathan, C Judge, N Perrot, ... GENETIC EPIDEMIOLOGY 46 (7), 490-490, 2022 | | 2022 |
| Natural history study of visual function in patients with BBS1-and BBS10-related retinal degeneration. MG Pechhacker, SG Jacobson, AV Drack, M Di Scipio, I Stubbe, ... Investigative Ophthalmology & Visual Science 62 (8), 3284-3284, 2021 | | 2021 |
Ajoy VincentThe Hospital for Sick Children and University of Torontoایمیل تأیید شده در sickkids.ca