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Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
Walpole S, Pritchard AL, Cebulla CM, Pilarski R, Stautberg M, Davidorf FH, de la Fouchardière A, Cabaret O, Golmard L, Stoppa-Lyonnet D, Garfield E, Njauw CN, Cheung M, Turunen JA, Repo P, Järvinen RS, van Doorn R, Jager MJ, Luyten GPM, Marinkovic M, Chau C, Potrony M, Höiom V, Helgadottir H, Pastorino L, Bruno W, Andreotti V, Dalmasso B, Ciccarese G, Queirolo P, Mastracci L, Wadt K, Kiilgaard JF, Speicher MR, van Poppelen N, Kilic E, Al-Jamal RT, Dianzani I, Betti M, Bergmann C, Santagata S, Dahiya S, Taibjee S, Burke J, Poplawski N, O'Shea SJ, Newton-Bishop J, Adlard J, Adams DJ, Lane AM, Kim I, Klebe S, Racher H, Harbour JW, Nickerson ML, Murali R, Palmer JM, Howlie M, Symmons J, Hamilton H, Warrier S, Glasson W, Johansson P, Robles-Espinoza CD, Ossio R, de Klein A, Puig S, Ghiorzo P, Nielsen M, Kivelä TT, Tsao H, Testa JR, Gerami P, Stern MH, Paillerets BB, Abdel-Rahman MH, Hayward NK. Walpole S, et al. Among authors: kim i. J Natl Cancer Inst. 2018 Dec 1;110(12):1328-1341. doi: 10.1093/jnci/djy171. J Natl Cancer Inst. 2018. PMID: 30517737 Free PMC article. Review.
High throughput mass spectrometry-based mutation profiling of primary uveal melanoma.
Daniels AB, Lee JE, MacConaill LE, Palescandolo E, Van Hummelen P, Adams SM, DeAngelis MM, Hahn WC, Gragoudas ES, Harbour JW, Garraway LA, Kim IK. Daniels AB, et al. Invest Ophthalmol Vis Sci. 2012 Oct 9;53(11):6991-6. doi: 10.1167/iovs.12-10427. Invest Ophthalmol Vis Sci. 2012. PMID: 22977135 Free PMC article.
Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H. Artomov M, et al. Among authors: kim i. J Natl Cancer Inst. 2017 Dec 1;109(12):djx083. doi: 10.1093/jnci/djx083. J Natl Cancer Inst. 2017. PMID: 29522175 Free PMC article.
Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes.
Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein RJ, Kiezun A, Gupta N, Margolin L, Stratigos AJ, Kim I, Shannon K, Ellisen LW, Haber D, Getz G, Tsao H, Lipkin SM, Altshuler D, Offit K, Daly MJ. Artomov M, et al. Among authors: kim i. Eur J Hum Genet. 2019 May;27(5):824-828. doi: 10.1038/s41431-019-0346-0. Epub 2019 Feb 4. Eur J Hum Genet. 2019. PMID: 30718883 Free PMC article.
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