| Molecular profiling for precision cancer therapies ER Malone, M Oliva, PJB Sabatini, TL Stockley, LL Siu Genome medicine 12, 1-19, 2020 | 757 | 2020 |
| Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome R Weksberg, C Shuman, O Caluseriu, AC Smith, YL Fei, J Nishikawa, ... Human Molecular Genetics 11 (11), 1317-1325, 2002 | 395 | 2002 |
| Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial TL Stockley, AM Oza, HK Berman, NB Leighl, JJ Knox, FA Shepherd, ... Genome medicine 8, 1-12, 2016 | 260 | 2016 |
| The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists K Boycott, T Hartley, S Adam, F Bernier, K Chong, BA Fernandez, ... Journal of Medical Genetics 52 (7), 431-437, 2015 | 235 | 2015 |
| The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported GHB Maegawa, T Stockley, M Tropak, B Banwell, S Blaser, F Kok, ... Pediatrics 118 (5), e1550-e1562, 2006 | 212 | 2006 |
| Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis GHB Maegawa, M Tropak, J Buttner, T Stockley, F Kok, JTR Clarke, ... Journal of Biological Chemistry 282 (12), 9150-9161, 2007 | 201 | 2007 |
| CHARGE and Kabuki syndromes: gene-specific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions DT Butcher, C Cytrynbaum, AL Turinsky, MT Siu, M Inbar-Feigenberg, ... The American Journal of Human Genetics 100 (5), 773-788, 2017 | 197 | 2017 |
| Adavosertib plus gemcitabine for platinum-resistant or platinum-refractory recurrent ovarian cancer: a double-blind, randomised, placebo-controlled, phase 2 trial S Lheureux, MC Cristea, JP Bruce, S Garg, M Cabanero, ... The Lancet 397 (10271), 281-292, 2021 | 177 | 2021 |
| Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation AJ McCarthy, JM Capo‐Chichi, T Spence, S Grenier, T Stockley, ... The Journal of Pathology: Clinical Research 5 (2), 115-129, 2019 | 151 | 2019 |
| Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease C Auray-Blais, D Cyr, A Ntwari, ML West, J Cox-Brinkman, DG Bichet, ... Molecular genetics and metabolism 93 (3), 331-340, 2008 | 122 | 2008 |
| A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer MA Sukhai, KJ Craddock, M Thomas, AR Hansen, T Zhang, L Siu, ... Genetics in Medicine 18 (2), 128-136, 2016 | 114 | 2016 |
| 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes A Noor, L Dupuis, K Mittal, AC Lionel, CR Marshall, SW Scherer, ... Human mutation 36 (7), 689-693, 2015 | 90 | 2015 |
| Personalized risk assessment for prevention and early detection of breast cancer: integration and implementation (PERSPECTIVE I&I) JD Brooks, H Nabi, IL Andrulis, AC Antoniou, J Chiquette, P Després, ... Journal of personalized medicine 11 (6), 511, 2021 | 86 | 2021 |
| Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia CR Marshall, SW Scherer, MA Zariwala, L Lau, TA Paton, T Stockley, ... G3: Genes, Genomes, Genetics 5 (8), 1775-1781, 2015 | 83 | 2015 |
| The mutational landscape of accelerated-and blast-phase myeloproliferative neoplasms impacts patient outcomes CJ McNamara, T Panzarella, JA Kennedy, A Arruda, JO Claudio, ... Blood advances 2 (20), 2658-2671, 2018 | 73 | 2018 |
| Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy JY Spiegel, C McNamara, JA Kennedy, T Panzarella, A Arruda, T Stockley, ... Blood advances 1 (20), 1729-1738, 2017 | 72 | 2017 |
| Auditory responses in cochlear implant users with and without GJB2 deafness EJ Propst, BC Papsin, TL Stockley, RV Harrison, KA Gordon The Laryngoscope 116 (2), 317-327, 2006 | 72 | 2006 |
| Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing S Garg, TS Nagaria, B Clarke, O Freedman, Z Khan, J Schwock, ... Modern Pathology 32 (12), 1823-1833, 2019 | 71 | 2019 |
| Canavan disease: Carrier‐frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay A Feigenbaum, R Moore, J Clarke, S Hewson, D Chitayat, PN Ray, ... American Journal of Medical Genetics Part A 124 (2), 142-147, 2004 | 63 | 2004 |
| A clinical and molecular phase II trial of oral ENMD-2076 in ovarian clear cell carcinoma (OCCC): a study of the Princess Margaret Phase II Consortium S Lheureux, A Tinker, B Clarke, P Ghatage, S Welch, JI Weberpals, ... Clinical Cancer Research 24 (24), 6168-6174, 2018 | 59 | 2018 |
