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Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center.
Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM. Crowley E, et al. Among authors: turinsky al. Gastroenterology. 2020 Jun;158(8):2208-2220. doi: 10.1053/j.gastro.2020.02.023. Epub 2020 Feb 19. Gastroenterology. 2020. PMID: 32084423 Free PMC article.
Don't brush off buccal data heterogeneity.
Turinsky AL, Butcher DT, Choufani S, Weksberg R, Brudno M. Turinsky AL, et al. Epigenetics. 2019 Feb;14(2):109-117. doi: 10.1080/15592294.2019.1581592. Epub 2019 Mar 1. Epigenetics. 2019. PMID: 30821575 Free PMC article.
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Driver HG, Hartley T, Price EM, Turinsky AL, Buske OJ, Osmond M, Ramani AK, Kirby E, Kernohan KD, Couse M, Elrick H, Lu K, Mashouri P, Mohan A, So D, Klamann C, Le HGBH, Herscovich A, Marshall CR, Statia A, Canada Consortium CR, Knoppers BM, Brudno M, Boycott KM. Driver HG, et al. Among authors: turinsky al. Hum Mutat. 2022 Jun;43(6):800-811. doi: 10.1002/humu.24354. Epub 2022 Mar 9. Hum Mutat. 2022. PMID: 35181971 Free PMC article.
Evaluation of single-cell RNA-seq clustering algorithms on cancer tumor datasets.
Mahalanabis A, Turinsky AL, Husić M, Christensen E, Luo P, Naidas A, Brudno M, Pugh T, Ramani AK, Shooshtari P. Mahalanabis A, et al. Among authors: turinsky al. Comput Struct Biotechnol J. 2022 Oct 26;20:6375-6387. doi: 10.1016/j.csbj.2022.10.029. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 36420149 Free PMC article.
Evaluation of single-cell RNAseq labelling algorithms using cancer datasets.
Christensen E, Luo P, Turinsky A, Husić M, Mahalanabis A, Naidas A, Diaz-Mejia JJ, Brudno M, Pugh T, Ramani A, Shooshtari P. Christensen E, et al. Brief Bioinform. 2023 Jan 19;24(1):bbac561. doi: 10.1093/bib/bbac561. Brief Bioinform. 2023. PMID: 36585784 Free PMC article.
50 results