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| The NLR gene family: a standard nomenclature JPY Ting, RC Lovering, ES Alnemri, J Bertin, JM Boss, BK Davis, ... Immunity 28 (3), 285-287, 2008 | 1099 | 2008 |
| Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome G Pilia, RM Hughes-Benzie, A MacKenzie, P Baybayan, EY Chen, ... Nature genetics 12 (3), 241-247, 1996 | 980 | 1996 |
| Rare-disease genetics in the era of next-generation sequencing: discovery to translation KM Boycott, MR Vanstone, DE Bulman, AE MacKenzie Nature Reviews Genetics 14 (10), 681-691, 2013 | 930 | 2013 |
| Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy C Tsilfidis, AE MacKenzie, G Mettler, J Barceló, RG Korneluk Nature genetics 1 (3), 192-195, 1992 | 438 | 1992 |
| Quantitative analysis of SARS-CoV-2 RNA from wastewater solids in communities with low COVID-19 incidence and prevalence PM D'Aoust, E Mercier, D Montpetit, JJ Jia, I Alexandrov, N Neault, ... Water research 188, 116560, 2021 | 368 | 2021 |
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| XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ... Nature 541 (7635), 87-91, 2017 | 261 | 2017 |
| The neuronal apoptosis inhibitory protein is a direct inhibitor of caspases 3 and 7 JKX Maier, Z Lahoua, NH Gendron, R Fetni, A Johnston, J Davoodi, ... Journal of Neuroscience 22 (6), 2035-2043, 2002 | 251 | 2002 |
| Catching a resurgence: Increase in SARS-CoV-2 viral RNA identified in wastewater 48 h before COVID-19 clinical tests and 96 h before hospitalizations PM D'Aoust, TE Graber, E Mercier, D Montpetit, I Alexandrov, N Neault, ... Science of The Total Environment 770, 145319, 2021 | 193 | 2021 |
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| Watson syndrome: is it a subtype of type 1 neurofibromatosis? JE Allanson, M Upadhyaya, GH Watson, M Partington, A MacKenzie, ... Journal of medical genetics 28 (11), 752-756, 1991 | 149 | 1991 |
| DNM1L-related mitochondrial fission defect presenting as refractory epilepsy JR Vanstone, AM Smith, S McBride, T Naas, M Holcik, G Antoun, ... European Journal of Human Genetics 24 (7), 1084-1088, 2016 | 147 | 2016 |
| Simpson‐Golabi‐Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families RM Hughes‐Benzie, G Pilia, JY Xuan, AGW Hunter, E Chen, M Golabi, ... American journal of medical genetics 66 (2), 227-234, 1996 | 143 | 1996 |
| Simpson‐Golabi‐Behmel syndrome associated with renal dysplasia and embryonal tumor: Localization of the gene to Xqcen‐q21 RM Hughes‐Benzie, AGW Hunter, JE Allanson, AE Mackenzie American journal of medical genetics 43 (1‐2), 428-435, 1992 | 116 | 1992 |
| The human ryanodine receptor gene: its mapping to 19q13. 1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy AE MacKenzie, RG Korneluk, F Zorzato, J Fujii, M Phillips, D Iles, ... American journal of human genetics 46 (6), 1082, 1990 | 113 | 1990 |
| p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR F Farooq, S Balabanian, X Liu, M Holcik, A MacKenzie Human molecular genetics 18 (21), 4035-4045, 2009 | 111 | 2009 |
| The hippocampal neurons of neuronal apoptosis inhibitory protein 1 (NAIP1)-deleted mice display increased vulnerability to kainic acid-induced injury M Holcik, CS Thompson, Z Yaraghi, CA Lefebvre, AE MacKenzie, ... Proceedings of the National Academy of Sciences 97 (5), 2286-2290, 2000 | 109 | 2000 |
