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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: njauw cn. 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.
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: njauw cn. 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.
Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.
Haugh AM, Njauw CN, Bubley JA, Verzì AE, Zhang B, Kudalkar E, VandenBoom T, Walton K, Swick BL, Kumar R, Rana HQ, Cochrane S, McCormick SR, Shea CR, Tsao H, Gerami P. Haugh AM, et al. Among authors: njauw cn. JAMA Dermatol. 2017 Oct 1;153(10):999-1006. doi: 10.1001/jamadermatol.2017.2330. JAMA Dermatol. 2017. PMID: 28793149 Free PMC article. Review.
Classifying Melanoma by TERT Promoter Mutational Status.
Shaughnessy M, Njauw CN, Artomov M, Tsao H. Shaughnessy M, et al. Among authors: njauw cn. J Invest Dermatol. 2020 Feb;140(2):390-394.e1. doi: 10.1016/j.jid.2019.06.149. Epub 2019 Aug 16. J Invest Dermatol. 2020. PMID: 31425705 Free PMC article.
Cancer risks associated with the germline MITF(E318K) variant.
Guhan SM, Artomov M, McCormick S, Njauw C-, Stratigos AJ, Shannon K, Ellisen LW, Tsao H. Guhan SM, et al. Sci Rep. 2020 Oct 13;10(1):17051. doi: 10.1038/s41598-020-74237-z. Sci Rep. 2020. PMID: 33051548 Free PMC article.
32 results