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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. Ioannidis NM, et al. Am J Hum Genet. 2016 Oct 6;99(4):877-885. doi: 10.1016/j.ajhg.2016.08.016. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666373 Free PMC article.
Linkage mapping of the spinal muscular atrophy gene.
Burghes AH, Ingraham SE, Kóte-Jarai Z, Rosenfeld S, Herta N, Nadkarni N, DiDonato CJ, Carpten J, Hurko O, Florence J, et al. Burghes AH, et al. Hum Genet. 1994 Mar;93(3):305-12. doi: 10.1007/BF00212028. Hum Genet. 1994. PMID: 8125483
Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
Edwards SM, Kote-Jarai Z, Meitz J, Hamoudi R, Hope Q, Osin P, Jackson R, Southgate C, Singh R, Falconer A, Dearnaley DP, Ardern-Jones A, Murkin A, Dowe A, Kelly J, Williams S, Oram R, Stevens M, Teare DM, Ponder BA, Gayther SA, Easton DF, Eeles RA; Cancer Research UK/Bristish Prostate Group UK Familial Prostate Cancer Study Collaborators; British Association of Urological Surgeons Section of Oncology. Edwards SM, et al. Am J Hum Genet. 2003 Jan;72(1):1-12. doi: 10.1086/345310. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474142 Free PMC article.
Multiple newly identified loci associated with prostate cancer susceptibility.
Eeles RA, Kote-Jarai Z, Giles GG, Olama AA, Guy M, Jugurnauth SK, Mulholland S, Leongamornlert DA, Edwards SM, Morrison J, Field HI, Southey MC, Severi G, Donovan JL, Hamdy FC, Dearnaley DP, Muir KR, Smith C, Bagnato M, Ardern-Jones AT, Hall AL, O'Brien LT, Gehr-Swain BN, Wilkinson RA, Cox A, Lewis S, Brown PM, Jhavar SG, Tymrakiewicz M, Lophatananon A, Bryant SL; UK Genetic Prostate Cancer Study Collaborators; British Association of Urological Surgeons' Section of Oncology; UK ProtecT Study Collaborators; Horwich A, Huddart RA, Khoo VS, Parker CC, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Fisher C, Jamieson C, Cooper CS, English DR, Hopper JL, Neal DE, Easton DF. Eeles RA, et al. Nat Genet. 2008 Mar;40(3):316-21. doi: 10.1038/ng.90. Epub 2008 Feb 10. Nat Genet. 2008. PMID: 18264097
Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium.
Kote-Jarai Z, Easton DF, Stanford JL, Ostrander EA, Schleutker J, Ingles SA, Schaid D, Thibodeau S, Dörk T, Neal D, Donovan J, Hamdy F, Cox A, Maier C, Vogel W, Guy M, Muir K, Lophatananon A, Kedda MA, Spurdle A, Steginga S, John EM, Giles G, Hopper J, Chappuis PO, Hutter P, Foulkes WD, Hamel N, Salinas CA, Koopmeiners JS, Karyadi DM, Johanneson B, Wahlfors T, Tammela TL, Stern MC, Corral R, McDonnell SK, Schürmann P, Meyer A, Kuefer R, Leongamornlert DA, Tymrakiewicz M, Liu JF, O'Mara T, Gardiner RA, Aitken J, Joshi AD, Severi G, English DR, Southey M, Edwards SM, Al Olama AA; PRACTICAL Consortium; Eeles RA. Kote-Jarai Z, et al. Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):2052-61. doi: 10.1158/1055-9965.EPI-08-0317. Cancer Epidemiol Biomarkers Prev. 2008. PMID: 18708398 Free PMC article.
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
Eeles RA, Kote-Jarai Z, Al Olama AA, Giles GG, Guy M, Severi G, Muir K, Hopper JL, Henderson BE, Haiman CA, Schleutker J, Hamdy FC, Neal DE, Donovan JL, Stanford JL, Ostrander EA, Ingles SA, John EM, Thibodeau SN, Schaid D, Park JY, Spurdle A, Clements J, Dickinson JL, Maier C, Vogel W, Dörk T, Rebbeck TR, Cooney KA, Cannon-Albright L, Chappuis PO, Hutter P, Zeegers M, Kaneva R, Zhang HW, Lu YJ, Foulkes WD, English DR, Leongamornlert DA, Tymrakiewicz M, Morrison J, Ardern-Jones AT, Hall AL, O'Brien LT, Wilkinson RA, Saunders EJ, Page EC, Sawyer EJ, Edwards SM, Dearnaley DP, Horwich A, Huddart RA, Khoo VS, Parker CC, Van As N, Woodhouse CJ, Thompson A, Christmas T, Ogden C, Cooper CS, Southey MC, Lophatananon A, Liu JF, Kolonel LN, Le Marchand L, Wahlfors T, Tammela TL, Auvinen A, Lewis SJ, Cox A, FitzGerald LM, Koopmeiners JS, Karyadi DM, Kwon EM, Stern MC, Corral R, Joshi AD, Shahabi A, McDonnell SK, Sellers TA, Pow-Sang J, Chambers S, Aitken J, Gardiner RA, Batra J, Kedda MA, Lose F, Polanowski A, Patterson B, Serth J, Meyer A, Luedeke M, Stefflova K, Ray AM, Lange EM, Farnham J, Khan H, Slavov C, Mitkova A, Cao G; UK Genetic Prostate Cancer Study Collaborators/British Associati… See abstract for full author list ➔ Eeles RA, et al. Nat Genet. 2009 Oct;41(10):1116-21. doi: 10.1038/ng.450. Epub 2009 Sep 20. Nat Genet. 2009. PMID: 19767753 Free PMC article.
Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript.
Kote-Jarai Z, Amin Al Olama A, Leongamornlert D, Tymrakiewicz M, Saunders E, Guy M, Giles GG, Severi G, Southey M, Hopper JL, Sit KC, Harris JM, Batra J, Spurdle AB, Clements JA, Hamdy F, Neal D, Donovan J, Muir K, Pharoah PD, Chanock SJ, Brown N, Benlloch S, Castro E, Mahmud N, O'Brien L, Hall A, Sawyer E, Wilkinson R, Easton DF, Eeles RA. Kote-Jarai Z, et al. Hum Genet. 2011 Jun;129(6):687-94. doi: 10.1007/s00439-011-0981-1. Epub 2011 Apr 5. Hum Genet. 2011. PMID: 21465221 Free PMC article.
292 results