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Page 1
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Hartley T, Soubry É, Acker M, Osmond M, Couse M, Gillespie MK, Ito Y, Marshall AE, Lemire G, Huang L, Chisholm C, Eaton AJ, Price EM, Dowling JJ, Ramani AK, Mendoza-Londono R, Costain G, Axford MM, Szuto A, McNiven V, Damseh N, Jobling R, de Kock L, Mojarad BA, Young T, Shao Z, Hayeems RZ, Graham ID, Tarnopolsky M, Brady L, Armour CM, Geraghty M, Richer J, Sawyer S, Lines M, Mercimek-Andrews S, Carter MT, Graham G, Kannu P, Lazier J, Li C, Aul RB, Balci TB, Dlamini N, Badalato L, Guerin A, Walia J, Chitayat D, Cohn R, Faghfoury H, Forster-Gibson C, Gonorazky H, Grunebaum E, Inbar-Feigenberg M, Karp N, Morel C, Rusnak A, Sondheimer N, Warman-Chardon J, Bhola PT, Bourque DK, Chacon IJ, Chad L, Chakraborty P, Chong K, Doja A, Goh ES, Saleh M; Care4Rare Canada; Potter BK, Marshall CR, Dyment DA, Kernohan K, Boycott KM. Hartley T, et al. Among authors: ramani ak. Clin Genet. 2023 Mar;103(3):288-300. doi: 10.1111/cge.14262. Epub 2022 Nov 29. Clin Genet. 2023. PMID: 36353900
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 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: ramani ak. 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.
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Villani A, Davidson S, Kanwar N, Lo WW, Li Y, Cohen-Gogo S, Fuligni F, Edward LM, Light N, Layeghifard M, Harripaul R, Waldman L, Gallinger B, Comitani F, Brunga L, Hayes R, Anderson ND, Ramani AK, Yuki KE, Blay S, Johnstone B, Inglese C, Hammad R, Goudie C, Shuen A, Wasserman JD, Venier RE, Eliou M, Lorenti M, Ryan CA, Braga M, Gloven-Brown M, Han J, Montero M, Spatare F, Whitlock JA, Scherer SW, Chun K, Somerville MJ, Hawkins C, Abdelhaleem M, Ramaswamy V, Somers GR, Kyriakopoulou L, Hitzler J, Shago M, Morgenstern DA, Tabori U, Meyn S, Irwin MS, Malkin D, Shlien A. Villani A, et al. Among authors: ramani ak. Nat Cancer. 2023 Feb;4(2):203-221. doi: 10.1038/s43018-022-00474-y. Epub 2022 Dec 30. Nat Cancer. 2023. PMID: 36585449 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: ramani ak. 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.
34 results