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Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER. Shuib S, et al. Among authors: barber rm. Am J Med Genet A. 2009 Oct;149A(10):2099-105. doi: 10.1002/ajmg.a.32824. Am J Med Genet A. 2009. PMID: 19760623
Genotype-phenotype correlations in VHL exon deletions.
McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER. McNeill A, et al. Am J Med Genet A. 2009 Oct;149A(10):2147-51. doi: 10.1002/ajmg.a.33023. Am J Med Genet A. 2009. PMID: 19764026
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, Allen S, Tulloch O, Goel S, Shand B, Rahman T, Luchtenborg M, Garrett A, Barber R, Bedenham T, Bourn D, Bradshaw K, Brooks C, Bruty J, Burghel GJ, Butler S, Buxton C, Callaway A, Callaway J, Drummond J, Durkie M, Field J, Jenkins L, McVeigh TP, Mountford R, Nyanhete R, Petrides E, Robinson R, Scott T, Stinton V, Tellez J, Wallace AJ, Yarram-Smith L, Sahan K, Hallowell N, Eccles DM, Pharoah P, Tischkowitz M, Antoniou AC, Evans DG, Lalloo F, Norbury G, Morris E, Burn J, Hardy S, Turnbull C. Loong L, et al. J Med Genet. 2023 Jul;60(7):669-678. doi: 10.1136/jmg-2022-108800. Epub 2022 Dec 26. J Med Genet. 2023. PMID: 36572524 Free PMC article.
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Spurdle AB, Whiley PJ, Thompson B, Feng B, Healey S, Brown MA, Pettigrew C; kConFab; Van Asperen CJ, Ausems MG, Kattentidt-Mouravieva AA, van den Ouweland AM; Dutch Belgium UV Consortium; Lindblom A, Pigg MH, Schmutzler RK, Engel C, Meindl A; German Consortium of Hereditary Breast and Ovarian Cancer; Caputo S, Sinilnikova OM, Lidereau R; French COVAR group collaborators; Couch FJ, Guidugli L, Hansen Tv, Thomassen M, Eccles DM, Tucker K, Benitez J, Domchek SM, Toland AE, Van Rensburg EJ, Wappenschmidt B, Borg Å, Vreeswijk MP, Goldgar DE; ENIGMA Consortium. Spurdle AB, et al. J Med Genet. 2012 Aug;49(8):525-32. doi: 10.1136/jmedgenet-2012-101037. J Med Genet. 2012. PMID: 22889855 Free PMC article.
Assessing COVID-19 pandemic policies and behaviours and their economic and educational trade-offs across US states from Jan 1, 2020, to July 31, 2022: an observational analysis.
Bollyky TJ, Castro E, Aravkin AY, Bhangdia K, Dalos J, Hulland EN, Kiernan S, Lastuka A, McHugh TA, Ostroff SM, Zheng P, Chaudhry HT, Ruggiero E, Turilli I, Adolph C, Amlag JO, Bang-Jensen B, Barber RM, Carter A, Chang C, Cogen RM, Collins JK, Dai X, Dangel WJ, Dapper C, Deen A, Eastus A, Erickson M, Fedosseeva T, Flaxman AD, Fullman N, Giles JR, Guo G, Hay SI, He J, Helak M, Huntley BM, Iannucci VC, Kinzel KE, LeGrand KE, Magistro B, Mokdad AH, Nassereldine H, Ozten Y, Pasovic M, Pigott DM, Reiner RC Jr, Reinke G, Schumacher AE, Serieux E, Spurlock EE, Troeger CE, Vo AT, Vos T, Walcott R, Yazdani S, Murray CJL, Dieleman JL. Bollyky TJ, et al. Among authors: barber rm. Lancet. 2023 Apr 22;401(10385):1341-1360. doi: 10.1016/S0140-6736(23)00461-0. Epub 2023 Mar 23. Lancet. 2023. PMID: 36966780 Free PMC article.
73 results