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Page 1
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Among authors: emond mj. Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18. Hepatology. 2015. PMID: 25605615 Free PMC article.
Reply: To PMID 25605615.
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Powell LW, Gurrin LC, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Among authors: emond mj. Hepatology. 2015 Dec;62(6):1918-9. doi: 10.1002/hep.27851. Epub 2015 Jun 3. Hepatology. 2015. PMID: 25914125 No abstract available.
Reply.
McLaren CE, Barton JC, Phatak PD, Emond MJ, Subramaniam VN, Gurrin LC, Adams PC, Powell LW, Ramm GA, Anderson GJ, McLaren GD. McLaren CE, et al. Among authors: emond mj. Hepatology. 2016 Jun;63(6):2056-7. doi: 10.1002/hep.28260. Epub 2015 Dec 18. Hepatology. 2016. PMID: 26417986 Free PMC article. No abstract available.
Reply.
McLaren CE, Barton JC, Subramaniam VN, Ramm GA, Phatak PD, Emond MJ, Gurrin LC, Adams PC, Powell LW, Anderson GJ, McLaren GD. McLaren CE, et al. Among authors: emond mj. Hepatology. 2016 Jun;63(6):2058-60. doi: 10.1002/hep.28479. Epub 2016 Mar 15. Hepatology. 2016. PMID: 26845080 Free PMC article. No abstract available.
GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
Barton JC, Chen WP, Emond MJ, Phatak PD, Subramaniam VN, Adams PC, Gurrin LC, Anderson GJ, Ramm GA, Powell LW, Allen KJ, Phillips JD, Parker CJ, McLaren GD, McLaren CE. Barton JC, et al. Among authors: emond mj. Blood Cells Mol Dis. 2017 Mar;63:15-20. doi: 10.1016/j.bcmd.2016.11.009. Epub 2016 Nov 12. Blood Cells Mol Dis. 2017. PMID: 27936396 Free PMC article.
Reply.
McLaren GD, Barton JC, Ramm GA, Emond MJ, Subramaniam VN, Phatak PD, Adams PC, Powell LW, Gurrin LC, Anderson GJ, McLaren CE. McLaren GD, et al. Among authors: emond mj. Hepatology. 2017 Mar;65(3):1072-1073. doi: 10.1002/hep.29002. Epub 2017 Feb 3. Hepatology. 2017. PMID: 28010035 Free PMC article. No abstract available.
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.
Barton JC, McLaren CE, Chen WP, Ramm GA, Anderson GJ, Powell LW, Subramaniam VN, Adams PC, Phatak PD, Gurrin LC, Phillips JD, Parker CJ, Emond MJ, McLaren GD. Barton JC, et al. Among authors: emond mj. Ann Hepatol. 2018 Aug 24;17(5):871-879. doi: 10.5604/01.3001.0012.3169. Ann Hepatol. 2018. PMID: 30145563 Free PMC article.
Identification of Rare Variants in ATP8B4 as a Risk Factor for Systemic Sclerosis by Whole-Exome Sequencing.
Gao L, Emond MJ, Louie T, Cheadle C, Berger AE, Rafaels N, Vergara C, Kim Y, Taub MA, Ruczinski I, Mathai SC, Rich SS, Nickerson DA, Hummers LK, Bamshad MJ, Hassoun PM, Mathias RA; National Heart, Lung, and Blood Institute GO Exome Sequencing Project; Barnes KC. Gao L, et al. Among authors: emond mj. Arthritis Rheumatol. 2016 Jan;68(1):191-200. doi: 10.1002/art.39449. Arthritis Rheumatol. 2016. PMID: 26473621 Free PMC article.
Exome sequencing as a tool for Mendelian disease gene discovery.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Bamshad MJ, et al. Among authors: emond mj. Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031. Nat Rev Genet. 2011. PMID: 21946919 Review.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
129 results