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The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.
Stock AJ, Gonzalez Paredes P, de Almeida LP, Kosanke SD, Chetlur S, Budde H, Wakenight P, Zwingman TA, Rosen ABI, Allenspach EJ, Millen KJ, Buckner JH, Rawlings DJ, Gorman JA. Stock AJ, et al. Among authors: rosen abi. Front Immunol. 2024 Feb 29;15:1349601. doi: 10.3389/fimmu.2024.1349601. eCollection 2024. Front Immunol. 2024. PMID: 38487540 Free PMC article.
The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.
Allenspach EJ, Shubin NJ, Cerosaletti K, Mikacenic C, Gorman JA, MacQuivey MA, Rosen ABI, Timms AE, Wray-Dutra MN, Niino K, Liggitt D, Wurfel MM, Buckner JH, Piliponsky AM, Rawlings DJ. Allenspach EJ, et al. Among authors: rosen abi. J Immunol. 2021 Dec 1;207(11):2710-2719. doi: 10.4049/jimmunol.2100454. Epub 2021 Nov 5. J Immunol. 2021. PMID: 34740959 Free PMC article.
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, Rawlings DJ. Allenspach EJ, et al. Among authors: rosen abi. J Exp Med. 2021 May 3;218(5):e20201195. doi: 10.1084/jem.20201195. J Exp Med. 2021. PMID: 33724365 Free PMC article.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Petrovski S, et al. Among authors: rosen abi. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.