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Page 1
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Krysiak K, Danos AM, Saliba J, McMichael JF, Coffman AC, Kiwala S, Barnell EK, Sheta L, Grisdale CJ, Kujan L, Pema S, Lever J, Ridd S, Spies NC, Andric V, Chiorean A, Rieke DT, Clark KA, Reisle C, Venigalla AC, Evans M, Jani P, Takahashi H, Suda A, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Kesserwan C, Lamping M, Shen H, Marr AR, Hoang MH, Singhal K, Khanfar M, Li BV, Lin WH, Terraf P, Corson LB, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, King I, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith M, Griffith OL. Krysiak K, et al. Among authors: terraf p. Nucleic Acids Res. 2023 Jan 6;51(D1):D1230-D1241. doi: 10.1093/nar/gkac979. Nucleic Acids Res. 2023. PMID: 36373660 Free PMC article.
A community approach to the cancer-variant-interpretation bottleneck.
Krysiak K, Danos AM, Kiwala S, McMichael JF, Coffman AC, Barnell EK, Sheta L, Saliba J, Grisdale CJ, Kujan L, Pema S, Lever J, Spies NC, Chiorean A, Rieke DT, Clark KA, Jani P, Takahashi H, Horak P, Ritter DI, Zhou X, Ainscough BJ, Delong S, Lamping M, Marr AR, Li BV, Lin WH, Terraf P, Salama Y, Campbell KM, Farncombe KM, Ji J, Zhao X, Xu X, Kanagal-Shamanna R, Cotto KC, Skidmore ZL, Walker JR, Zhang J, Milosavljevic A, Patel RY, Giles RH, Kim RH, Schriml LM, Mardis ER, Jones SJM, Raca G, Rao S, Madhavan S, Wagner AH, Griffith OL, Griffith M. Krysiak K, et al. Among authors: terraf p. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma.
Mandelker D, Marra A, Zheng-Lin B, Selenica P, Blanco-Heredia J, Zhu Y, Gazzo A, Wong D, Yelskaya Z, Rai V, Somar J, Ostafi S, Mehta N, Yang C, Li Y, Brown DN, da Silva EM, Pei X, Linkov I, Terraf P, Misyura M, Ceyhan-Birsoy O, Ladanyi M, Berger M, Pareja F, Stadler Z, Offit K, Riaz N, Park W, Chou J, Capanu M, Koehler M, Rosen E, O'Reilly EM, Reis-Filho JS. Mandelker D, et al. Among authors: terraf p. J Clin Oncol. 2023 Nov 20;41(33):5151-5162. doi: 10.1200/JCO.23.00561. Epub 2023 Aug 22. J Clin Oncol. 2023. PMID: 37607324 Free PMC article.
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Terraf P, Pareja F, Brown DN, Ceyhan-Birsoy O, Misyura M, Rana S, O'Reilly E, Carlo MI, Aghajanian C, Liu Y, Derakhshan F, Jayakumaran G, Weigelt B, Walsh M, Stadler Z, Offit K, Ladanyi M, Robson M, Zehir A, Reis-Filho JS, Mandelker D. Terraf P, et al. Ann Oncol. 2022 Apr;33(4):426-433. doi: 10.1016/j.annonc.2022.01.006. Epub 2022 Jan 21. Ann Oncol. 2022. PMID: 35074424 Free PMC article.
Twists and turns from "tumor in tumor" profiling: surveillance of chronic lymphocytic leukemia (CLL) leads to detection of a lung adenocarcinoma, whose genomic characterization alters the original hematologic diagnosis.
Terraf P, Sholl LM, Davids MS, Awad MM, Garcia EP, MacConaill LE, Dal Cin P, Kim A, Lindeman NI, Stachler M, Hwang DH, Dubuc AM. Terraf P, et al. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006089. doi: 10.1101/mcs.a006089. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34074652 Free PMC article.
Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.
Ceyhan-Birsoy O, Fiala E, Rana S, Sheehan M, Kennedy J, Yelskaya Z, Rai V, Li Y, Yang C, Wong D, Rijo I, Casanova J, Somar J, Mehta N, Park H, Ostafi S, Arora K, Padunan A, Ewalt MD, Aypar U, Terraf P, Misyura M, Haque S, Behr GG, Haque T, Sulis M, Geyer MB, Forlenza C, Thompson MC, Carlo M, Latham A, Liu Y, Zehir A, Brannon R, Berger M, Diaz LA Jr, Dogan A, Ladanyi M, Petrova-Drus K, Nafa K, Offit K, Arcila M, Stadler ZK, Walsh MF, Mandelker D. Ceyhan-Birsoy O, et al. Among authors: terraf p. Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055. Haematologica. 2024. PMID: 38572560 Free PMC article. No abstract available.
Recommendations for Cell-Free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Lockwood CM, Borsu L, Cankovic M, Earle JSL, Gocke CD, Hameed M, Jordan D, Lopategui JR, Pullambhatla M, Reuther J, Rumilla KM, Tafe LJ, Temple-Smolkin RL, Terraf P, Tsimberidou AM. Lockwood CM, et al. Among authors: terraf p. J Mol Diagn. 2023 Dec;25(12):876-897. doi: 10.1016/j.jmoldx.2023.09.004. Epub 2023 Oct 6. J Mol Diagn. 2023. PMID: 37806433 Review.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Balak C, Belnap N, Ramsey K, Joss S, Devriendt K, Naymik M, Jepsen W, Siniard AL, Szelinger S, Parker ME, Richholt R, Izatt T, LaFleur M, Terraf P, Llaci L, De Both M, Piras IS, Rangasamy S, Schrauwen I, Craig DW, Huentelman M, Narayanan V. Balak C, et al. Among authors: terraf p. Am J Med Genet A. 2018 Jul;176(7):1549-1558. doi: 10.1002/ajmg.a.38712. Am J Med Genet A. 2018. PMID: 30160831
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