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Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease.
Schiff ER, Frampton M, Ben-Yosef N, Avila BE, Semplici F, Pontikos N, Bloom SL, McCartney SA, Vega R, Lovat LB, Wood E, Hart A, Israeli E, Crespi D, Furman MA, Mann S, Murray CD, Segal AW, Levine AP. Schiff ER, et al. Among authors: segal aw. Hum Genet. 2018 Sep;137(9):723-734. doi: 10.1007/s00439-018-1927-7. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167848 Free PMC article.
Phagocyte dysfunction and inflammatory bowel disease.
Rahman FZ, Marks DJ, Hayee BH, Smith AM, Bloom SL, Segal AW. Rahman FZ, et al. Among authors: segal aw. Inflamm Bowel Dis. 2008 Oct;14(10):1443-52. doi: 10.1002/ibd.20449. Inflamm Bowel Dis. 2008. PMID: 18421761 Review.
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. Glocker EO, et al. Among authors: segal aw. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. N Engl J Med. 2009. PMID: 19890111 Free PMC article.
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW. Hayee B, et al. Among authors: segal aw. Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8. Glycobiology. 2011. PMID: 21385794 Free PMC article.
238 results