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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: harris 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.
The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis.
Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA; Wellcome Trust Case Control Consortium; Australasian Osteoporosis Genetics Consortium (AOGC); Stebbings S, Harrison AA, Evans DM, Duncan EL, Wordsworth BP, Brown MA; Australasian Osteoporosis Genetics Consortium AOGC. Robinson PC, et al. Among authors: harris j. Genes Immun. 2016 Jan-Feb;17(1):46-51. doi: 10.1038/gene.2015.49. Epub 2015 Nov 26. Genes Immun. 2016. PMID: 26610302
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. McInerney-Leo AM, et al. Among authors: harris je. Hum Mutat. 2016 Jul;37(7):695-702. doi: 10.1002/humu.22994. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27038415
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. McInerney-Leo AM, et al. Among authors: harris je. J Med Genet. 2016 Jul;53(7):457-64. doi: 10.1136/jmedgenet-2015-103647. Epub 2016 Apr 11. J Med Genet. 2016. PMID: 27068007
9,612 results