| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 451 | 2016 |
| International cooperation to enable the diagnosis of all rare genetic diseases KM Boycott, A Rath, JX Chong, T Hartley, FS Alkuraya, G Baynam, ... The American Journal of Human Genetics 100 (5), 695-705, 2017 | 441 | 2017 |
| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 318 | 2019 |
| 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 | 231 | 2015 |
| ClinPred: prediction tool to identify disease-relevant nonsynonymous single-nucleotide variants N Alirezaie, KD Kernohan, T Hartley, J Majewski, TD Hocking The American Journal of Human Genetics 103 (4), 474-483, 2018 | 210 | 2018 |
| A diagnosis for all rare genetic diseases: the horizon and the next frontiers KM Boycott, T Hartley, LG Biesecker, RA Gibbs, AM Innes, O Riess, ... Cell 177 (1), 32-37, 2019 | 149 | 2019 |
| PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ... Human mutation 36 (10), 931-940, 2015 | 142 | 2015 |
| Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ... Clinical genetics 92 (3), 281-289, 2017 | 119 | 2017 |
| Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study DA Dyment, M Tetreault, CL Beaulieu, T Hartley, P Ferreira, JW Chardon, ... Clinical genetics 88 (1), 34-40, 2015 | 108 | 2015 |
| New diagnostic approaches for undiagnosed rare genetic diseases T Hartley, G Lemire, KD Kernohan, HE Howley, DR Adams, KM Boycott Annual review of genomics and human genetics 21 (1), 351-372, 2020 | 106 | 2020 |
| Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy KA Aldinger, SJ Mosca, M Tétreault, JC Dempsey, GE Ishak, T Hartley, ... The American Journal of Human Genetics 95 (2), 227-234, 2014 | 106 | 2014 |
| Endoplasmic reticulum stress response in an INS-1 pancreatic β-cell line with inducible expression of a folding-deficient proinsulin T Hartley, M Siva, E Lai, T Teodoro, L Zhang, A Volchuk BMC cell biology 11, 1-18, 2010 | 90 | 2010 |
| A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy C Simons, D Dyment, SJ Bent, J Crawford, M D’Hooghe, A Kohlschütter, ... Brain 140 (12), 3105-3111, 2017 | 77 | 2017 |
| Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic β-cells T Hartley, J Brumell, A Volchuk American Journal of Physiology-Endocrinology and Metabolism 296 (1), E1-E10, 2009 | 77 | 2009 |
| 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 | 76 | 2021 |
| Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ... The American Journal of Human Genetics 100 (2), 281-296, 2017 | 73 | 2017 |
| Biallelic mutations in LRRC56, encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects S Bonnefoy, CM Watson, KD Kernohan, M Lemos, S Hutchinson, ... The American Journal of Human Genetics 103 (5), 727-739, 2018 | 67 | 2018 |
| Germline AGO2 mutations impair RNA interference and human neurological development D Lessel, DM Zeitler, MRF Reijnders, A Kazantsev, F Hassani Nia, ... Nature communications 11 (1), 5797, 2020 | 65 | 2020 |
| Mandibulofacial dysostosis with microcephaly: mutation and database update L Huang, MR Vanstone, T Hartley, M Osmond, N Barrowman, J Allanson, ... Human mutation 37 (2), 148-154, 2016 | 65 | 2016 |
| The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles OJ Buske, F Schiettecatte, B Hutton, S Dumitriu, A Misyura, L Huang, ... Human mutation 36 (10), 922-927, 2015 | 61 | 2015 |
