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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.
Multiple Endocrine Neoplasia Type 1 (MEN1) 5'UTR Deletion, in MEN1 Family, Decreases Menin Expression.
Kooblall KG, Boon H, Cranston T, Stevenson M, Pagnamenta AT, Rogers A, Grozinsky-Glasberg S, Richardson T, Flanagan DE; Genomics England Research Consortium, Taylor JC, Lines KE, Thakker RV. Kooblall KG, et al. Among authors: cranston t. J Bone Miner Res. 2021 Jan;36(1):100-109. doi: 10.1002/jbmr.4156. Epub 2020 Sep 15. J Bone Miner Res. 2021. PMID: 32780883
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Among authors: cranston t. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
Pachydermoperiostosis Masquerading as Acromegaly.
Karimova MM, Halimova ZY, Urmanova YM, Korbonits M, Cranston T, Grossman AB. Karimova MM, et al. Among authors: cranston t. J Endocr Soc. 2017 Jan 16;1(2):109-112. doi: 10.1210/js.2016-1084. eCollection 2017 Feb 1. J Endocr Soc. 2017. PMID: 29264471 Free PMC article.
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