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Page 1
Re-evaluation of missense variant classifications in NF2.
Sadler KV, Rowlands CF, Smith PT, Hartley CL, Bowers NL, Roberts NY, Harris JL, Wallace AJ, Evans DG, Messiaen LM, Smith MJ. Sadler KV, et al. Among authors: hartley cl. Hum Mutat. 2022 May;43(5):643-654. doi: 10.1002/humu.24370. Epub 2022 Apr 2. Hum Mutat. 2022. PMID: 35332608 Free PMC article.
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Smith MJ, Perez-Becerril C, van der Meer M, Burghel GJ, Waller SJ, Carney M, Bunstone S, Fryer K, Bowers NL, Hartley CL, Smith PT, Rutherford SA, Freeman SR, Lloyd SKW, Pathmanaban ON, King AT, Halliday D, Duff C, Evans DG. Smith MJ, et al. Among authors: hartley cl. J Med Genet. 2024 Oct 23;61(11):1011-1015. doi: 10.1136/jmg-2024-110217. J Med Genet. 2024. PMID: 39209702
Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18. J Med Genet. 2021. PMID: 33208383 Free PMC article.
38 results