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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder RK C Yuen, D Merico, M Bookman, J L Howe, B Thiruvahindrapuram, ... Nature neuroscience 20 (4), 602-611, 2017 | 823 | 2017 |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 571 | 2018 |
Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder K Tammimies, CR Marshall, S Walker, G Kaur, B Thiruvahindrapuram, ... Jama 314 (9), 895-903, 2015 | 452 | 2015 |
A comprehensive workflow for read depth-based identification of copy-number variation from whole-genome sequence data B Trost, S Walker, Z Wang, B Thiruvahindrapuram, JR MacDonald, ... The American Journal of Human Genetics 102 (1), 142-155, 2018 | 186 | 2018 |
Genomic architecture of autism from comprehensive whole-genome sequence annotation B Trost, B Thiruvahindrapuram, AJS Chan, W Engchuan, ... Cell 185 (23), 4409-4427. e18, 2022 | 139 | 2022 |
Genome sequencing as a diagnostic test in children with unexplained medical complexity G Costain, S Walker, M Marano, D Veenma, M Snell, M Curtis, S Luca, ... JAMA network open 3 (9), e2018109-e2018109, 2020 | 74 | 2020 |
A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder K Tsiplova, RM Zur, CR Marshall, DJ Stavropoulos, SL Pereira, D Merico, ... Genetics in Medicine 19 (11), 1268-1275, 2017 | 67 | 2017 |
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants MS Reuter, S Walker, B Thiruvahindrapuram, J Whitney, I Cohn, ... Cmaj 190 (5), E126-E136, 2018 | 66 | 2018 |
RNA-Seq effectively monitors gene expression in Eutrema salsugineum plants growing in an extreme natural habitat and in controlled growth cabinet conditions MJ Champigny, WWL Sung, V Catana, R Salwan, PS Summers, ... Bmc Genomics 14, 1-24, 2013 | 47 | 2013 |
Impact of DNA source on genetic variant detection from human whole-genome sequencing data B Trost, S Walker, SA Haider, WWL Sung, S Pereira, CL Phillips, ... Journal of medical genetics 56 (12), 809-817, 2019 | 40 | 2019 |
Acclimation of the crucifer Eutrema salsugineum to phosphate limitation is associated with constitutively high expression of phosphate‐starvation genes VME Velasco, J Mansbridge, S Bremner, K Carruthers, PS Summers, ... Plant, cell & environment 39 (8), 1818-1834, 2016 | 31 | 2016 |
Clinical genetic risk variants inform a functional protein interaction network for Tetralogy of Fallot MS Reuter, RR Chaturvedi, RK Jobling, G Pellecchia, O Hamdan, ... Circulation: Genomic and precision medicine 14 (4), e003410, 2021 | 25 | 2021 |
De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis) S Lok, TA Paton, Z Wang, G Kaur, S Walker, RKC Yuen, WWL Sung, ... G3: Genes, Genomes, Genetics 7 (2), 755-773, 2017 | 23 | 2017 |
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy R Lesurf, A Said, O Akinrinade, J Breckpot, K Delfosse, T Liu, R Yao, ... NPJ genomic medicine 7 (1), 18, 2022 | 22 | 2022 |
Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome E Tavares, CY Tang, A Vig, S Li, G Billingsley, W Sung, A Vincent, ... Molecular genetics & genomic medicine 7 (2), e00521, 2019 | 22 | 2019 |
Long-read sequencing improves the detection of structural variations impacting complex non-coding elements of the genome G Begum, A Albanna, A Bankapur, N Nassir, R Tambi, BK Berdiev, ... International Journal of Molecular Sciences 22 (4), 2060, 2021 | 21 | 2021 |
Exposure of two Eutrema salsugineum (Thellungiella salsuginea) accessions to water deficits reveals different coping strategies in response to drought MJR MacLeod, J Dedrick, C Ashton, WWL Sung, MJ Champigny, ... Physiologia plantarum 155 (3), 267-280, 2015 | 19 | 2015 |
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder AJS Chan, W Engchuan, MS Reuter, Z Wang, B Thiruvahindrapuram, ... Nature Communications 13 (1), 6463, 2022 | 16 | 2022 |
Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023 CP Sjaarda, L Lau, JT Simpson, R Fattouh, MJ Biondi, F Maguire, ... JAMA Network Open 6 (7), e2324963-e2324963, 2023 | 13 | 2023 |