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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM. Schmidts M, et al. Among authors: harris ja. Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31. Am J Hum Genet. 2013. PMID: 24183451 Free PMC article.
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.
McInerney-Leo AM, Schmidts M, Cortés CR, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M; UK10K Consortium; Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C. McInerney-Leo AM, et al. Among authors: harris ja. Am J Hum Genet. 2013 Sep 5;93(3):515-23. doi: 10.1016/j.ajhg.2013.06.022. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910462 Free PMC article.
Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D. Gratten J, et al. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
Robinson PC, Leo PJ, Pointon JJ, Harris J, Cremin K, Bradbury LA, Stebbings S, Harrison AA; Australian Osteoporosis Genetics Consortium; Wellcome Trust Case Control Consortium; Management Committee; Data and Analysis Group; DNA, Genotyping, Data QC and Informatics Group; Publications Committee; Duncan EL, Evans DM, Wordsworth PB, Brown MA. Robinson PC, et al. NPJ Genom Med. 2016 May 4;1:16008. doi: 10.1038/npjgenmed.2016.8. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263810 Free PMC article.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Benyamin B, He J, Zhao Q, Gratten J, Garton F, Leo PJ, Liu Z, Mangelsdorf M, Al-Chalabi A, Anderson L, Butler TJ, Chen L, Chen XD, Cremin K, Deng HW, Devine M, Edson J, Fifita JA, Furlong S, Han YY, Harris J, Henders AK, Jeffree RL, Jin ZB, Li Z, Li T, Li M, Lin Y, Liu X, Marshall M, McCann EP, Mowry BJ, Ngo ST, Pamphlett R, Ran S, Reutens DC, Rowe DB, Sachdev P, Shah S, Song S, Tan LJ, Tang L, van den Berg LH, van Rheenen W, Veldink JH, Wallace RH, Wheeler L, Williams KL, Wu J, Wu X, Yang J, Yue W, Zhang ZH, Zhang D, Noakes PG, Blair IP, Henderson RD, McCombe PA, Visscher PM, Xu H, Bartlett PF, Brown MA, Wray NR, Fan D. Benyamin B, et al. Among authors: harris j. Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1. Nat Commun. 2017. PMID: 28931804 Free PMC article.
Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
Li Z, Akar S, Yarkan H, Lee SK, Çetin P, Can G, Kenar G, Çapa F, Pamuk ON, Pehlivan Y, Cremin K, De Guzman E, Harris J, Wheeler L, Jamshidi A, Vojdanian M, Farhadi E, Ahmadzadeh N, Yüce Z, Dalkılıç E, Solmaz D, Akın B, Dönmez S, Sarı İ, Leo PJ, Kenna TJ, Önen F, Mahmoudi M, Brown MA, Akkoc N. Li Z, et al. PLoS Genet. 2019 Apr 4;15(4):e1008038. doi: 10.1371/journal.pgen.1008038. eCollection 2019 Apr. PLoS Genet. 2019. PMID: 30946743 Free PMC article.
Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.
Flynn A, Dwight T, Benn D, Deb S, Colebatch AJ, Fox S, Harris J, Duncan EL, Robinson B, Hogg A, Ellul J, To H, Duong C, Miller JA, Yates C, James P, Trainer A, Gill AJ, Clifton-Bligh R, Hicks RJ, Tothill RW. Flynn A, et al. Among authors: harris j. J Pathol. 2017 Jul;242(3):273-283. doi: 10.1002/path.4900. Epub 2017 May 13. J Pathol. 2017. PMID: 28369925
636 results