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Page 1
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. 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.
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term secondary lifestyle behavioural outcomes.
Burnell M, Gaba F, Sobocan M, Desai R, Sanderson S, Loggenberg K, Gessler S, Side L, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R. Burnell M, et al. Among authors: dorkins h. BJOG. 2022 Nov;129(12):1970-1980. doi: 10.1111/1471-0528.17253. Epub 2022 Jul 13. BJOG. 2022. PMID: 35781768 Free PMC article. Clinical Trial.
Jewish cultural and religious factors and uptake of population-based BRCA testing across denominations: a cohort study.
Reisel D, Burnell M, Side L, Loggenberg K, Gessler S, Desai R, Sanderson S, Brady AF, Dorkins H, Wallis Y, Jacobs C, Legood R, Beller U, Tomlinson I, Wardle J, Menon U, Jacobs I, Manchanda R. Reisel D, et al. Among authors: dorkins h. BJOG. 2022 May;129(6):959-968. doi: 10.1111/1471-0528.16994. Epub 2021 Nov 25. BJOG. 2022. PMID: 34758513
SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.
Williams ST, Chatzikyriakou P, Carroll PV, McGowan BM, Velusamy A, White G, Obholzer R, Akker S, Tufton N, Casey RT, Maher ER, Park SM, Porteous M, Dyer R, Tan T, Wernig F, Brady AF, Kosicka-Slawinska M, Whitelaw BC, Dorkins H, Lalloo F, Brennan P, Carlow J, Martin R, Mitchell AL, Harrison R, Hawkes L, Newell-Price J, Kelsall A, Igbokwe R, Adlard J, Schirwani S, Davidson R, Morrison PJ, Chung TT, Bowles C, Izatt L. Williams ST, et al. Among authors: dorkins h. Clin Endocrinol (Oxf). 2022 Apr;96(4):499-512. doi: 10.1111/cen.14594. Epub 2021 Sep 24. Clin Endocrinol (Oxf). 2022. PMID: 34558728 Free article.
Editorial: JMG in 2021.
Dorkins H. Dorkins H. J Med Genet. 2021 Jan 13:jmedgenet-2020-107679. doi: 10.1136/jmedgenet-2020-107679. Online ahead of print. J Med Genet. 2021. PMID: 33441386 No abstract available.
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Higgins J, Dalgleish R, den Dunnen JT, Barsh G, Freeman PJ, Cooper DN, Cullinan S, Davies KE, Dorkins H, Gong L, Imoto I, Klein TE, Korf B, Misra A, Paalman MH, Ratzel S, Reichardt JKV, Rehm HL, Tokunaga K, Weck KE, Cutting GR. Higgins J, et al. Among authors: dorkins h. Hum Mutat. 2021 Jan;42(1):3-7. doi: 10.1002/humu.24144. Epub 2020 Dec 10. Hum Mutat. 2021. PMID: 33252176 Free PMC article.
Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.
Manchanda R, Burnell M, Gaba F, Desai R, Wardle J, Gessler S, Side L, Sanderson S, Loggenberg K, Brady AF, Dorkins H, Wallis Y, Chapman C, Jacobs C, Legood R, Beller U, Tomlinson I, Menon U, Jacobs I. Manchanda R, et al. Among authors: dorkins h. BJOG. 2020 Feb;127(3):364-375. doi: 10.1111/1471-0528.15905. Epub 2019 Sep 10. BJOG. 2020. PMID: 31507061 Clinical Trial.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Among authors: dorkins h. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
JMG in 2019: looking forward, looking back.
Dorkins H. Dorkins H. J Med Genet. 2019 Jul;56(7):419. doi: 10.1136/jmedgenet-2019-106308. J Med Genet. 2019. PMID: 31235544 No abstract available.
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