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9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature.
Jensen MR, Stoltze U, Hansen TVO, Bak M, Sehested A, Rechnitzer C, Mathiasen R, Scheie D, Larsen KB, Olsen TE, Muhic A, Skjøth-Rasmussen J, Rossing M, Schmiegelow K, Wadt K. Jensen MR, et al. Among authors: wadt k. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006164. doi: 10.1101/mcs.a006164. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35422439 Free PMC article. Review.
Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Grazziotin TC, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard A, Puig S, van der Stoep N, Wadt KAW, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA; GenoMEL Study Group. Taylor NJ, et al. Among authors: wadt kaw. J Invest Dermatol. 2017 Dec;137(12):2606-2612. doi: 10.1016/j.jid.2017.07.829. Epub 2017 Aug 19. J Invest Dermatol. 2017. PMID: 28830827 Free PMC article.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Taylor NJ, Mitra N, Qian L, Avril MF, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Goldstein AM, Grazziotin TC, Gruis NA, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Holland EA, Ingvar C, Landi MT, Landman G, Larre-Borges A, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard AL, Puig S, Schmid H, van der Stoep N, Tucker MA, Wadt KAW, Yang XR, Newton-Bishop JA, Kanetsky PA; GenoMEL Study Group. Taylor NJ, et al. Among authors: wadt kaw. J Am Acad Dermatol. 2019 Aug;81(2):386-394. doi: 10.1016/j.jaad.2019.01.079. Epub 2019 Feb 5. J Am Acad Dermatol. 2019. PMID: 30731170 Free PMC article.
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A, Hansen TVO, Stoltze UK, Mehrjouy MM, Barnkob NM, Hjalgrim LL, Mathiasen R, Lautrup CK, Gregersen PA, Hasle H, Wehner PS, Tuckuviene R, Sackett PW, Laspiur AO, Rossing M, Marvig RL, Tommerup N, Olsen TE, Scheie D, Gupta R, Gerdes AM, Schmiegelow K, Wadt K. Byrjalsen A, et al. Among authors: wadt k. PLoS Genet. 2020 Dec 17;16(12):e1009231. doi: 10.1371/journal.pgen.1009231. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33332384 Free PMC article.
RosettaDDGPrediction for high-throughput mutational scans: From stability to binding.
Sora V, Laspiur AO, Degn K, Arnaudi M, Utichi M, Beltrame L, De Menezes D, Orlandi M, Stoltze UK, Rigina O, Sackett PW, Wadt K, Schmiegelow K, Tiberti M, Papaleo E. Sora V, et al. Among authors: wadt k. Protein Sci. 2023 Jan;32(1):e4527. doi: 10.1002/pro.4527. Protein Sci. 2023. PMID: 36461907 Free PMC article.
86 results