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Page 1
Standard operating procedure for curation and clinical interpretation of variants in cancer.
Danos AM, Krysiak K, Barnell EK, Coffman AC, McMichael JF, Kiwala S, Spies NC, Sheta LM, Pema SP, Kujan L, Clark KA, Wollam AZ, Rao S, Ritter DI, Sonkin D, Raca G, Lin WH, Grisdale CJ, Kim RH, Wagner AH, Madhavan S, Griffith M, Griffith OL. Danos AM, et al. Among authors: kim rh. Genome Med. 2019 Nov 29;11(1):76. doi: 10.1186/s13073-019-0687-x. Genome Med. 2019. PMID: 31779674 Free PMC article. Review.
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: kim rh. Nat Cancer. 2022 May;3(5):522-525. doi: 10.1038/s43018-022-00379-w. Nat Cancer. 2022. PMID: 35624339 Free PMC article.
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: kim rh. Nucleic Acids Res. 2023 Jan 6;51(D1):D1230-D1241. doi: 10.1093/nar/gkac979. Nucleic Acids Res. 2023. PMID: 36373660 Free PMC article.
Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.
Stockley TL, Oza AM, Berman HK, Leighl NB, Knox JJ, Shepherd FA, Chen EX, Krzyzanowska MK, Dhani N, Joshua AM, Tsao MS, Serra S, Clarke B, Roehrl MH, Zhang T, Sukhai MA, Califaretti N, Trinkaus M, Shaw P, van der Kwast T, Wang L, Virtanen C, Kim RH, Razak AR, Hansen AR, Yu C, Pugh TJ, Kamel-Reid S, Siu LL, Bedard PL. Stockley TL, et al. Among authors: kim rh. Genome Med. 2016 Oct 25;8(1):109. doi: 10.1186/s13073-016-0364-2. Genome Med. 2016. PMID: 27782854 Free PMC article. Clinical Trial.
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing.
Ding Q, Somerville C, Manshaei R, Trost B, Reuter MS, Kalbfleisch K, Stanley K, Okello JBA, Hosseini SM, Liston E, Curtis M, Zarrei M, Higginbotham EJ, Chan AJS, Engchuan W, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. Ding Q, et al. Among authors: kim rh. Hum Genet. 2023 Feb;142(2):201-216. doi: 10.1007/s00439-022-02494-1. Epub 2022 Nov 14. Hum Genet. 2023. PMID: 36376761 Free PMC article.
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: kim rh. Eur J Hum Genet. 2024 Jul;32(7):795-803. doi: 10.1038/s41431-024-01629-4. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778082 Free PMC article.
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C, Kodida R, Shickh S, Clausen M, Reble E, Sam J, Grewal S, Hirjikaka D, Panchal S, Piccinin C, Aronson M, Ward T, Armel SR, Hofstedter R, Graham T, Mancuso T, Forster N, Capo-Chichi JM, Greenfeld E, Noor A, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowksi E, Schrader KA, Chan KKW, Thorpe KE, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: kim rh. Genet Med. 2024 Nov 8:101323. doi: 10.1016/j.gim.2024.101323. Online ahead of print. Genet Med. 2024. PMID: 39530317
527 results