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A Bayesian framework for efficient and accurate variant prediction.
Qian D, Li S, Tian Y, Clifford JW, Sarver BAJ, Pesaran T, Gau CL, Elliott AM, Lu HM, Black MH. Qian D, et al. Among authors: gau cl. PLoS One. 2018 Sep 13;13(9):e0203553. doi: 10.1371/journal.pone.0203553. eCollection 2018. PLoS One. 2018. PMID: 30212499 Free PMC article.
Genotype-phenotype associations among panel-based TP53+ subjects.
Rana HQ, Clifford J, Hoang L, LaDuca H, Black MH, Li S, McGoldrick K, Speare V, Dolinsky JS, Gau CL, Garber JE. Rana HQ, et al. Among authors: gau cl. Genet Med. 2019 Nov;21(11):2478-2484. doi: 10.1038/s41436-019-0541-y. Epub 2019 May 20. Genet Med. 2019. PMID: 31105275 Free article.
Efforts Toward Consensus Variant Interpretation by Commercial Laboratories.
Dolinsky JS, Hruska KS, Pesaran T, Richardson ME, Klein RT, Solomon BD, Gau CL. Dolinsky JS, et al. Among authors: gau cl. J Clin Oncol. 2017 Apr 10;35(11):1261-1262. doi: 10.1200/JCO.2016.71.2505. Epub 2017 Jan 30. J Clin Oncol. 2017. PMID: 28135139 No abstract available.
Somatic TP53 variants frequently confound germ-line testing results.
Weitzel JN, Chao EC, Nehoray B, Van Tongeren LR, LaDuca H, Blazer KR, Slavin T, Facmg DABMD, Pesaran T, Rybak C, Solomon I, Niell-Swiller M, Dolinsky JS, Castillo D, Elliott A, Gau CL, Speare V, Jasperson K. Weitzel JN, et al. Among authors: gau cl. Genet Med. 2018 Aug;20(8):809-816. doi: 10.1038/gim.2017.196. Epub 2017 Nov 30. Genet Med. 2018. PMID: 29189820 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: gau cl. 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: gau cl. 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.
TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.
Gray PN, Tsai P, Chen D, Wu S, Hoo J, Mu W, Li B, Vuong H, Lu HM, Batth N, Willett S, Uyeda L, Shah S, Gau CL, Umali M, Espenschied C, Janicek M, Brown S, Margileth D, Dobrea L, Wagman L, Rana H, Hall MJ, Ross T, Terdiman J, Cullinane C, Ries S, Totten E, Elliott AM. Gray PN, et al. Among authors: gau cl. Oncotarget. 2018 Apr 17;9(29):20304-20322. doi: 10.18632/oncotarget.24854. eCollection 2018 Apr 17. Oncotarget. 2018. PMID: 29755653 Free PMC article.
Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.
Millson A, Lewis T, Pesaran T, Salvador D, Gillespie K, Gau CL, Pont-Kingdon G, Lyon E, Bayrak-Toydemir P. Millson A, et al. Among authors: gau cl. J Mol Diagn. 2015 Sep;17(5):576-82. doi: 10.1016/j.jmoldx.2015.05.005. Epub 2015 Jul 10. J Mol Diagn. 2015. PMID: 26165824 Free article.
23 results