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Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Akhlaghpour M, Haritunians T, More SK, Thomas LS, Stamps DT, Dube S, Li D, Yang S, Landers CJ, Mengesha E, Hamade H, Murali R, Potdar AA, Wolf AJ, Botwin GJ, Khrom M; International IBD Genetics Consortium; Ananthakrishnan AN, Faubion WA, Jabri B, Lira SA, Newberry RD, Sandler RS, Sartor RB, Xavier RJ, Brant SR, Cho JH, Duerr RH, Lazarev MG, Rioux JD, Schumm LP, Silverberg MS, Zaghiyan K, Fleshner P, Melmed GY, Vasiliauskas EA, Ha C, Rabizadeh S, Syal G, Bonthala NN, Ziring DA, Targan SR, Long MD, McGovern DPB, Michelsen KS. Akhlaghpour M, et al. Gut. 2023 Nov;72(11):2068-2080. doi: 10.1136/gutjnl-2023-329689. Epub 2023 Apr 20. Gut. 2023. PMID: 37080587 Free PMC article.
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.
Wu Y, Gettler K, Kars ME, Giri M, Li D, Bayrak CS, Zhang P, Jain A, Maffucci P, Sabic K, Van Vleck T, Nadkarni G, Denson LA, Ostrer H, Levine AP, Schiff ER, Segal AW, Kugathasan S, Stenson PD, Cooper DN, Philip Schumm L, Snapper S, Daly MJ, Haritunians T, Duerr RH, Silverberg MS, Rioux JD, Brant SR, McGovern DPB, Cho JH, Itan Y. Wu Y, et al. Among authors: philip schumm l. Nat Commun. 2023 Apr 20;14(1):2256. doi: 10.1038/s41467-023-37849-3. Nat Commun. 2023. PMID: 37080976 Free PMC article.
Assessment of sleep in the National Social Life, Health, and Aging Project.
Lauderdale DS, Philip Schumm L, Kurina LM, McClintock M, Thisted RA, Chen JH, Waite L. Lauderdale DS, et al. Among authors: philip schumm l. J Gerontol B Psychol Sci Soc Sci. 2014 Nov;69 Suppl 2(Suppl 2):S125-33. doi: 10.1093/geronb/gbu092. J Gerontol B Psychol Sci Soc Sci. 2014. PMID: 25360013 Free PMC article.
Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.
Silverberg MS, Duerr RH, Brant SR, Bromfield G, Datta LW, Jani N, Kane SV, Rotter JI, Philip Schumm L, Hillary Steinhart A, Taylor KD, Yang H, Cho JH, Rioux JD, Daly MJ; NIDDK IBD Genetics Consortium. Silverberg MS, et al. Among authors: philip schumm l. Eur J Hum Genet. 2007 Mar;15(3):328-35. doi: 10.1038/sj.ejhg.5201756. Epub 2007 Jan 10. Eur J Hum Genet. 2007. PMID: 17213842