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Rare variants at 16p11.2 are associated with common variable immunodeficiency.
Maggadottir SM, Li J, Glessner JT, Li YR, Wei Z, Chang X, Mentch FD, Thomas KA, Kim CE, Zhao Y, Hou C, Wang F, Jørgensen SF, Perez EE, Sullivan KE, Orange JS, Karlsen TH, Chapel H, Cunningham-Rundles C, Hakonarson H. Maggadottir SM, et al. Among authors: li j, li yr. J Allergy Clin Immunol. 2015 Jun;135(6):1569-77. doi: 10.1016/j.jaci.2014.12.1939. Epub 2015 Feb 10. J Allergy Clin Immunol. 2015. PMID: 25678086 Free PMC article.
Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.
Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, Hammarström L, Ellinghaus E. Li J, et al. Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804. Nat Commun. 2015. PMID: 25891430 Free PMC article.
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
Chang X, Zhao Y, Hou C, Glessner J, McDaniel L, Diamond MA, Thomas K, Li J, Wei Z, Liu Y, Guo Y, Mentch FD, Qiu H, Kim C, Evans P, Vaksman Z, Diskin SJ, Attiyeh EF, Sleiman P, Maris JM, Hakonarson H. Chang X, et al. Among authors: li j. Nat Commun. 2017 Sep 18;8(1):569. doi: 10.1038/s41467-017-00408-8. Nat Commun. 2017. PMID: 28924153 Free PMC article.
Common variants at 5q33.1 predispose to migraine in African-American children.
Chang X, Pellegrino R, Garifallou J, March M, Snyder J, Mentch F, Li J, Hou C, Liu Y, Sleiman PMA, Hakonarson H. Chang X, et al. Among authors: li j. J Med Genet. 2018 Dec;55(12):831-836. doi: 10.1136/jmedgenet-2018-105359. Epub 2018 Sep 28. J Med Genet. 2018. PMID: 30266756 Free PMC article.
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