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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E. Burdon KP, et al. Among authors: hadler j. Hum Mutat. 2022 Dec;43(12):2170-2186. doi: 10.1002/humu.24482. Epub 2022 Oct 19. Hum Mutat. 2022. PMID: 36217948 Free PMC article.
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
Souzeau E, Siggs OM, Mullany S, Schmidt JM, Hassall MM, Dubowsky A, Chappell A, Breen J, Bae H, Nicholl J, Hadler J, Kearns LS, Staffieri SE, Hewitt AW, Mackey DA, Gupta A, Burdon KP, Klebe S, Craig JE, Mills RA. Souzeau E, et al. Among authors: hadler j. Mol Genet Genomic Med. 2022 Oct;10(10):e2023. doi: 10.1002/mgg3.2023. Epub 2022 Aug 19. Mol Genet Genomic Med. 2022. PMID: 35985662 Free PMC article.
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
International Genetics of Ankylosing Spondylitis Consortium (IGAS); Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P; Australo-Anglo-American Spondyloarthritis Consortium (TASC); Groupe Française d'Etude Génétique des Spondylarthrites (GFEGS); Nord-Trøndelag Health Study (HUNT); Spondyloarthritis Research Consortium of Canada (SPARCC); Wellcome Trust Case Control Consortium 2 (WTCCC2); Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, Brown MA. International Genetics of Ankylosing Spondylitis Consortium (IGAS), et al. Among authors: hadler j. Nat Genet. 2013 Jul;45(7):730-8. doi: 10.1038/ng.2667. Epub 2013 Jun 9. Nat Genet. 2013. PMID: 23749187 Free PMC article.
Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.
Australo-Anglo-American Spondyloarthritis Consortium (TASC); Reveille JD, Sims AM, Danoy P, Evans DM, Leo P, Pointon JJ, Jin R, Zhou X, Bradbury LA, Appleton LH, Davis JC, Diekman L, Doan T, Dowling A, Duan R, Duncan EL, Farrar C, Hadler J, Harvey D, Karaderi T, Mogg R, Pomeroy E, Pryce K, Taylor J, Savage L, Deloukas P, Kumanduri V, Peltonen L, Ring SM, Whittaker P, Glazov E, Thomas GP, Maksymowych WP, Inman RD, Ward MM, Stone MA, Weisman MH, Wordsworth BP, Brown MA. Australo-Anglo-American Spondyloarthritis Consortium (TASC), et al. Among authors: hadler j. Nat Genet. 2010 Feb;42(2):123-7. doi: 10.1038/ng.513. Epub 2010 Jan 10. Nat Genet. 2010. PMID: 20062062 Free PMC article.
Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.
Danoy P, Pryce K, Hadler J, Bradbury LA, Farrar C, Pointon J; Australo-Anglo-American Spondyloarthritis Consortium; Ward M, Weisman M, Reveille JD, Wordsworth BP, Stone MA; Spondyloarthritis Research Consortium of Canada; Maksymowych WP, Rahman P, Gladman D, Inman RD, Brown MA. Danoy P, et al. Among authors: hadler j. PLoS Genet. 2010 Dec 2;6(12):e1001195. doi: 10.1371/journal.pgen.1001195. PLoS Genet. 2010. PMID: 21152001 Free PMC article.
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Duncan EL, Danoy P, Kemp JP, Leo PJ, McCloskey E, Nicholson GC, Eastell R, Prince RL, Eisman JA, Jones G, Sambrook PN, Reid IR, Dennison EM, Wark J, Richards JB, Uitterlinden AG, Spector TD, Esapa C, Cox RD, Brown SD, Thakker RV, Addison KA, Bradbury LA, Center JR, Cooper C, Cremin C, Estrada K, Felsenberg D, Glüer CC, Hadler J, Henry MJ, Hofman A, Kotowicz MA, Makovey J, Nguyen SC, Nguyen TV, Pasco JA, Pryce K, Reid DM, Rivadeneira F, Roux C, Stefansson K, Styrkarsdottir U, Thorleifsson G, Tichawangana R, Evans DM, Brown MA. Duncan EL, et al. Among authors: hadler j. PLoS Genet. 2011 Apr;7(4):e1001372. doi: 10.1371/journal.pgen.1001372. Epub 2011 Apr 21. PLoS Genet. 2011. PMID: 21533022 Free PMC article.
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
Jiang L, Yin J, Ye L, Yang J, Hemani G, Liu AJ, Zou H, He D, Sun L, Zeng X, Li Z, Zheng Y, Lin Y, Liu Y, Fang Y, Xu J, Li Y, Dai S, Guan J, Jiang L, Wei Q, Wang Y, Li Y, Huang C, Zuo X, Liu Y, Wu X, Zhang L, Zhou L, Zhang Q, Li T, Chen L, Xu Z, Yang X, Qian F, Xie W, Liu W, Guo Q, Huang S, Zhao J, Li M, Jin Y, Gao J, Lv Y, Wang Y, Lin L, Guo A, Danoy P, Willner D, Cremin C, Hadler J, Zhang F, Zhao Y, Li M, Yue T, Fan X, Guo J, Mu R, Li J, Wu C, Zeng M, Wang J, Li S, Jin L, Wang B, Wang J, Ma X, Sun L, Zhang X, Brown MA, Visscher PM, Su DF, Xu H. Jiang L, et al. Among authors: hadler j. Arthritis Rheumatol. 2014 May;66(5):1121-32. doi: 10.1002/art.38353. Arthritis Rheumatol. 2014. PMID: 24782177
215 results