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Page 1
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: kiilgaard jf. 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.
A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma.
Wadt KA, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O, Andersen MT, Kiilgaard JF, Heegaard S, Sunde L, Federspiel B, Madore J, Thompson JF, McCarthy SW, Goodwin A, Tsao H, Jönsson G, Busam K, Gupta R, Trent JM, Gerdes AM, Brown KM, Scolyer RA, Hayward NK. Wadt KA, et al. Among authors: kiilgaard jf. Clin Genet. 2015 Sep;88(3):267-72. doi: 10.1111/cge.12501. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25225168
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA, Aoude LG, Krogh L, Sunde L, Bojesen A, Grønskov K, Wartacz N, Ek J, Tolstrup-Andersen M, Klarskov-Andersen M, Borg Å, Heegaard S, Kiilgaard JF, Hansen TV, Klein K, Jönsson G, Drzewiecki KT, Dunø M, Hayward NK, Gerdes AM. Wadt KA, et al. Among authors: kiilgaard jf. PLoS One. 2015 Mar 24;10(3):e0122662. doi: 10.1371/journal.pone.0122662. eCollection 2015. PLoS One. 2015. PMID: 25803691 Free PMC article.
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
Johansson P, Aoude LG, Wadt K, Glasson WJ, Warrier SK, Hewitt AW, Kiilgaard JF, Heegaard S, Isaacs T, Franchina M, Ingvar C, Vermeulen T, Whitehead KJ, Schmidt CW, Palmer JM, Symmons J, Gerdes AM, Jönsson G, Hayward NK. Johansson P, et al. Among authors: kiilgaard jf. Oncotarget. 2016 Jan 26;7(4):4624-31. doi: 10.18632/oncotarget.6614. Oncotarget. 2016. PMID: 26683228 Free PMC article.
The Pediatric Choroidal and Ciliary Body Melanoma Study: A Survey by the European Ophthalmic Oncology Group.
Al-Jamal RT, Cassoux N, Desjardins L, Damato B, Konstantinidis L, Coupland SE, Heimann H, Petrovic A, Zografos L, Schalenbourg A, Velazquez-Martin JP, Krema H, Bogdali A, Markiewicz A, Romanowska-Dixon B, Metz CH, Biewald E, Bornfeld N, Kiratli H, Bronkhorst IH, Jager MJ, Marinkovic M, Fili M, Seregard S, Frenkel S, Pe'er J, Salvi SM, Rennie IG, Rospond-Kubiak I, Kociecki J, Kiilgaard JF, Heegaard S, Cohen VM, Sagoo MS, Amiryan A, Saakyan S, Eide N, Krohn J, Midena E, Parrozzani R, Grange JD, Kilic E, Blasi MA, Saornil MA, Kivelä TT. Al-Jamal RT, et al. Among authors: kiilgaard jf. Ophthalmology. 2016 Apr;123(4):898-907. doi: 10.1016/j.ophtha.2015.12.024. Epub 2016 Feb 4. Ophthalmology. 2016. PMID: 26854035
The Small Fatal Choroidal Melanoma Study. A Survey by the European Ophthalmic Oncology Group.
Jouhi S, Jager MJ, de Geus SJR, Desjardins L, Eide NA, Grange JD, Kiilgaard JF, Seregard S, Midena E, Parrozzani R, Caujolle JP, Rospond-Kubiak I, Kivelä TT. Jouhi S, et al. Among authors: kiilgaard jf. Am J Ophthalmol. 2019 Jun;202:100-108. doi: 10.1016/j.ajo.2019.01.031. Epub 2019 Feb 15. Am J Ophthalmol. 2019. PMID: 30772347 Free article.
The genetic evolution of metastatic uveal melanoma.
Shain AH, Bagger MM, Yu R, Chang D, Liu S, Vemula S, Weier JF, Wadt K, Heegaard S, Bastian BC, Kiilgaard JF. Shain AH, et al. Among authors: kiilgaard jf. Nat Genet. 2019 Jul;51(7):1123-1130. doi: 10.1038/s41588-019-0440-9. Epub 2019 Jun 28. Nat Genet. 2019. PMID: 31253977 Free PMC article.
Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours.
Johansson PA, Brooks K, Newell F, Palmer JM, Wilmott JS, Pritchard AL, Broit N, Wood S, Carlino MS, Leonard C, Koufariotis LT, Nathan V, Beasley AB, Howlie M, Dawson R, Rizos H, Schmidt CW, Long GV, Hamilton H, Kiilgaard JF, Isaacs T, Gray ES, Rolfe OJ, Park JJ, Stark A, Mann GJ, Scolyer RA, Pearson JV, van Baren N, Waddell N, Wadt KW, McGrath LA, Warrier SK, Glasson W, Hayward NK. Johansson PA, et al. Among authors: kiilgaard jf. Nat Commun. 2020 May 15;11(1):2408. doi: 10.1038/s41467-020-16276-8. Nat Commun. 2020. PMID: 32415113 Free PMC article.
121 results