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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Walker L; Breast and Ovarian Cancer Susceptibility Collaboration; Eccles D, Evans DG, Snape K, Hanson H, Houlston RS, Turnbull C. Loveday C, et al. Among authors: barwell j. Ann Oncol. 2022 Dec;33(12):1318-1327. doi: 10.1016/j.annonc.2022.09.152. Epub 2022 Sep 17. Ann Oncol. 2022. PMID: 36122798 Free article.
Genomic medicine for the 21st century.
Rahman I, Barwell J. Rahman I, et al. Among authors: barwell j. Ann R Coll Surg Engl. 2024 Apr;106(4):295-299. doi: 10.1308/rcsann.2024.0030. Ann R Coll Surg Engl. 2024. PMID: 38555870 Free PMC article. No abstract available.
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC).
Kohut K, Speight B, Young J, Way R, Wiggins J, Monje-Garcia L, Eccles DM, Foster C, Turner L, Snape K, Hanson H; CanGene-CanVar Patient Reference Panel; Consensus Meeting Participants. Kohut K, et al. J Med Genet. 2024 Jan 19;61(2):142-149. doi: 10.1136/jmg-2023-109440. J Med Genet. 2024. PMID: 38050080 Free article.
The British Orthopaedic Oncology Management (BOOM) audit.
Archer JE, Chauhan GS, Dewan V, Osman K, Thomson C, Nandra RS, Ashford RU, Cool P; BOOM Audit Group; Stevenson J. Archer JE, et al. Bone Joint J. 2023 Oct 1;105-B(10):1115-1122. doi: 10.1302/0301-620X.105B10.BJJ-2023-0443.R1. Bone Joint J. 2023. PMID: 37777202
Monozygotic twins and cholesteatomas: nature or nuture?
Brar S, Wolf DM, Faoury M, Barwell J, Saggar A, Daya H. Brar S, et al. Among authors: barwell j. Eur Arch Otorhinolaryngol. 2023 Dec;280(12):5649-5654. doi: 10.1007/s00405-023-08239-8. Epub 2023 Sep 22. Eur Arch Otorhinolaryngol. 2023. PMID: 37737872 Review.
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
Grove JI, Lo PCK, Shrine N, Barwell J, Wain LV, Tobin MD, Salter AM, Borkar AN, Cuevas-Ocaña S, Bennett N, John C, Ntalla I, Jones GE, Neal CP, Thomas MG, Kuht H, Gupta P, Vemala VM, Grant A, Adewoye AB, Shenoy KT, Balakumaran LK, Hollox EJ, Hannan NRF, Aithal GP. Grove JI, et al. Among authors: barwell j. JHEP Rep. 2023 Apr 23;5(8):100764. doi: 10.1016/j.jhepr.2023.100764. eCollection 2023 Aug. JHEP Rep. 2023. PMID: 37484212 Free PMC article.
210 results