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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.
Physical mapping of DXS134 close to the DXS52 locus.
Bell MV, Patterson MN, Dorkins HR, Davies KE. Bell MV, et al. Among authors: dorkins hr. Hum Genet. 1989 Apr;82(1):27-30. doi: 10.1007/BF00288266. Hum Genet. 1989. PMID: 2565864
Molecular analysis of muscular dystrophy.
Davies KE, Kenwrick SJ, Patterson MN, Smith TJ, Forrest SM, Dorkins HR, Cross GS, England SB. Davies KE, et al. Among authors: dorkins hr. J Muscle Res Cell Motil. 1988 Feb;9(1):1-8. doi: 10.1007/BF01682143. J Muscle Res Cell Motil. 1988. PMID: 3292577 Review.
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Ramus SJ, Antoniou AC, Kuchenbaecker KB, Soucy P, Beesley J, Chen X, McGuffog L, Sinilnikova OM, Healey S, Barrowdale D, Lee A, Thomassen M, Gerdes AM, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Liljegren A, Lindblom A, Olsson H, Kristoffersson U, Stenmark-Askmalm M, Melin B; SWE-BRCA; Domchek SM, Nathanson KL, Rebbeck TR, Jakubowska A, Lubinski J, Jaworska K, Durda K, Złowocka E, Gronwald J, Huzarski T, Byrski T, Cybulski C, Toloczko-Grabarek A, Osorio A, Benitez J, Duran M, Tejada MI, Hamann U, Rookus M, van Leeuwen FE, Aalfs CM, Meijers-Heijboer HE, van Asperen CJ, van Roozendaal KE, Hoogerbrugge N, Collée JM, Kriege M, van der Luijt RB; HEBON; EMBRACE; Peock S, Frost D, Ellis SD, Platte R, Fineberg E, Evans DG, Lalloo F, Jacobs C, Eeles R, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Paterson J, Douglas F, Brewer C, Hodgson S, Morrison PJ, Walker L, Porteous ME, Kennedy MJ, Pathak H, Godwin AK, Stoppa-Lyonnet D, Caux-Moncoutier V, de Pauw A, Gauthier-Villars M, Mazoyer S, Léoné M, Calender A, Lasset C, Bonadona V, Hardouin A, Berthet P, Bignon YJ, Uhrhammer N, Faivre L, Loustalot C; GEMO; Buys S, Daly M, Miron A, Terry MB, Chung WK, John EM, Southey M, Goldgar D, Singer CF,… See abstract for full author list ➔ Ramus SJ, et al. Hum Mutat. 2012 Apr;33(4):690-702. doi: 10.1002/humu.22025. Epub 2012 Feb 14. Hum Mutat. 2012. PMID: 22253144 Free PMC article.
Molecular analysis of human muscular dystrophies.
Davies KE, Forrest S, Smith T, Kenwrick S, Ball S, Dorkins H, Patterson M. Davies KE, et al. Among authors: dorkins h. Muscle Nerve. 1987 Mar-Apr;10(3):191-9. doi: 10.1002/mus.880100302. Muscle Nerve. 1987. PMID: 2882417 Review.
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Antoniou AC, Sinilnikova OM, McGuffog L, Healey S, Nevanlinna H, Heikkinen T, Simard J, Spurdle AB, Beesley J, Chen X; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer; Neuhausen SL, Ding YC, Couch FJ, Wang X, Fredericksen Z, Peterlongo P, Peissel B, Bonanni B, Viel A, Bernard L, Radice P, Szabo CI, Foretova L, Zikan M, Claes K, Greene MH, Mai PL, Rennert G, Lejbkowicz F, Andrulis IL, Ozcelik H, Glendon G; OCGN; Gerdes AM, Thomassen M, Sunde L, Caligo MA, Laitman Y, Kontorovich T, Cohen S, Kaufman B, Dagan E, Baruch RG, Friedman E, Harbst K, Barbany-Bustinza G, Rantala J, Ehrencrona H, Karlsson P, Domchek SM, Nathanson KL, Osorio A, Blanco I, Lasa A, Benítez J, Hamann U, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, van der Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, van Roozendaal CE; HEBON; Peock S, Cook M, Frost D, Oliver C, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Chu C, Eccles D, Cole T, Hodgson S; EMBRACE; Godwin AK, Stoppa-Lyonnet D, Buecher B, Léoné M, Bressac-de Paillerets B, Remenieras A, Caron O, Lenoir GM, Sevenet N, Longy M, Ferrer SF, Prieur F; GEMO; Goldgar D, Miron A, John EM, Buys SS, Daly MB, Hopp… See abstract for full author list ➔ Antoniou AC, et al. Hum Mol Genet. 2009 Nov 15;18(22):4442-56. doi: 10.1093/hmg/ddp372. Epub 2009 Aug 5. Hum Mol Genet. 2009. PMID: 19656774 Free PMC article.
Molecular analysis of human X-linked diseases.
Davies KE, Ball SP, Dorkins HR, Forrest SM, Kenwrick SJ, King AW, Lavenir IJ, McGlade SA, Patterson MN, Smith TJ, et al. Davies KE, et al. Among authors: dorkins hr. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:337-43. doi: 10.1101/sqb.1986.051.01.039. Cold Spring Harb Symp Quant Biol. 1986. PMID: 3472730 No abstract available.
80 results