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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Landrith T, et al. Among authors: profato j. NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020. NPJ Precis Oncol. 2020. PMID: 32133419 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33594121
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. Horton C, et al. Among authors: profato j. NPJ Genom Med. 2022 Aug 25;7(1):49. doi: 10.1038/s41525-022-00323-y. NPJ Genom Med. 2022. PMID: 36008414 Free PMC article.
Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.
Salvador MU, Truelson MRF, Mason C, Souders B, LaDuca H, Dougall B, Black MH, Fulk K, Profato J, Gutierrez S, Jasperson K, Tippin-Davis B, Lu HM, Gray P, Shah S, Chao EC, Ghahramani N, Landsverk M, Gau CL, Chen D, Pronold M. Salvador MU, et al. Among authors: profato j. J Clin Oncol. 2019 Mar 10;37(8):647-657. doi: 10.1200/JCO.18.00696. Epub 2019 Jan 31. J Clin Oncol. 2019. PMID: 30702970 Free PMC article.
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.
LaDuca H, Polley EC, Yussuf A, Hoang L, Gutierrez S, Hart SN, Yadav S, Hu C, Na J, Goldgar DE, Fulk K, Smith LP, Horton C, Profato J, Pesaran T, Gau CL, Pronold M, Davis BT, Chao EC, Couch FJ, Dolinsky JS. LaDuca H, et al. Among authors: profato j. Genet Med. 2020 Feb;22(2):407-415. doi: 10.1038/s41436-019-0633-8. Epub 2019 Aug 13. Genet Med. 2020. PMID: 31406321 Free PMC article.
13 results