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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. 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.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. Hanson H, et al. J Med Genet. 2023 Feb;60(2):107-111. doi: 10.1136/jmedgenet-2021-108355. Epub 2022 Mar 8. J Med Genet. 2023. PMID: 35260474 Free PMC article.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. Hanson H, et al. Among authors: murray a, murray j. J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411032 Free PMC article.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
A neurodegenerative cellular stress response linked to dark microglia and toxic lipid secretion.
Flury A, Aljayousi L, Park HJ, Khakpour M, Mechler J, Aziz S, McGrath JD, Deme P, Sandberg C, González Ibáñez F, Braniff O, Ngo T, Smith S, Velez M, Ramirez DM, Avnon-Klein D, Murray JW, Liu J, Parent M, Mingote S, Haughey NJ, Werneburg S, Tremblay MÈ, Ayata P. Flury A, et al. Among authors: murray jw. Neuron. 2024 Dec 19:S0896-6273(24)00875-4. doi: 10.1016/j.neuron.2024.11.018. Online ahead of print. Neuron. 2024. PMID: 39719704
Multi-ancestry Genome Wide Association Study Meta-analysis of Non-syndromic Orofacial Clefts.
Jia Z, Mukhopadhyay N, Yang Z, Butali A, Sun J, You Y, Yao M, Zhen Q, Ma J, He M, Pan Y, Alade A, Wang Y, Olujitan M, Qi M, Adeyemo WL, Buxó CJ, Gowans LJJ, Eshete M, Huang Y, Li C, Leslie EJ, Wang L, Bian Z, Carlson JC, Shi B, Weinberg SM, Murray JC, Sun L, Marazita ML, Freathy RM, Beaumont RN. Jia Z, et al. Among authors: murray jc. medRxiv [Preprint]. 2024 Dec 13:2024.12.06.24318522. doi: 10.1101/2024.12.06.24318522. medRxiv. 2024. PMID: 39711721 Free PMC article. Preprint.
7,201 results