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Year Number of Results
2020 1
2021 2
2022 3
2023 3
2024 0

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6 results

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Page 1
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG. Sadler KV, et al. Among authors: smith mj. J Med Genet. 2021 Apr;58(4):227-233. doi: 10.1136/jmedgenet-2020-107022. Epub 2020 Jun 23. J Med Genet. 2021. PMID: 32576656
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.
Guerrini-Rousseau L, Masliah-Planchon J, Waszak SM, Alhopuro P, Benusiglio PR, Bourdeaut F, Brecht IB, Del Baldo G, Dhanda SK, Garrè ML, Gidding CEM, Hirsch S, Hoarau P, Jorgensen M, Kratz C, Lafay-Cousin L, Mastronuzzi A, Pastorino L, Pfister SM, Schroeder C, Smith MJ, Vahteristo P, Vibert R, Vilain C, Waespe N, Winship IM, Evans DG, Brugieres L. Guerrini-Rousseau L, et al. Among authors: smith mj. J Med Genet. 2022 Jun 29;59(11):1123-32. doi: 10.1136/jmedgenet-2021-108385. Online ahead of print. J Med Genet. 2022. PMID: 35768194 Free PMC article.
Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.
Evans DG, Sithambaram S, van Veen EM, Burghel GJ, Schlecht H, Harkness EF, Byers H, Ellingford JM, Gandhi A, Howell SJ, Howell A, Forde C, Lalloo F, Newman WG, Smith MJ, Woodward ER. Evans DG, et al. Among authors: smith mj. J Med Genet. 2023 Aug;60(8):740-746. doi: 10.1136/jmg-2022-108790. Epub 2022 Nov 28. J Med Genet. 2023. PMID: 36442995
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans DG, van Veen EM, Byers HJ, Evans SJ, Burghel GJ, Woodward ER, Harkness EF, Eccles DM, Greville-Haygate SL, Ellingford JM, Bowers NL, Pereira M, Wallace AJ, Howell SJ, Howell A, Lalloo F, Newman WG, Smith MJ. Evans DG, et al. Among authors: smith mj. J Med Genet. 2022 Feb;59(2):115-121. doi: 10.1136/jmedgenet-2020-107347. Epub 2021 Mar 23. J Med Genet. 2022. PMID: 33758026 Free PMC article.