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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: leo pj. Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1. Nat Commun. 2017. PMID: 28931804 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. Among authors: leo pj. Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0. Genome Med. 2017. PMID: 29149916 Free PMC article.
Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia.
Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC, Pederson S, Singhal D, Samaraweera SE, Nguyen T, Cildir G, Marshall M, Ewing A, Duncan EL, Brown MA, Saal R, Tergaonkar V, To LB, Marlton P, Gill D, Lewis I, Deans AJ, Brown AL, D'Andrea RJ, Gonda TJ. Maung KZY, et al. Among authors: leo pj. Blood Cancer J. 2018 Jun 1;8(6):50. doi: 10.1038/s41408-018-0090-7. Blood Cancer J. 2018. PMID: 29891941 Free PMC article. No abstract available.
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: leo pj. 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 is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.
McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. McInerney-Leo AM, et al. Among authors: leo pj. Bonekey Rep. 2013 Dec 4;2:456. doi: 10.1038/bonekey.2013.190. eCollection 2013. Bonekey Rep. 2013. PMID: 24501682 Free PMC article.
88 results