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478 results
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Emerging roles of spliceosome in cancer and immunity.
Yang H, Beutler B, Zhang D. Yang H, et al. Among authors: beutler b. Protein Cell. 2022 Aug;13(8):559-579. doi: 10.1007/s13238-021-00856-5. Epub 2021 Jul 1. Protein Cell. 2022. PMID: 34196950 Free PMC article. Review.
Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development.
Choi JH, Zhong X, Zhang Z, Su L, McAlpine W, Misawa T, Liao TC, Zhan X, Russell J, Ludwig S, Li X, Tang M, Anderton P, Moresco EMY, Beutler B. Choi JH, et al. Among authors: beutler b. J Exp Med. 2020 Apr 6;217(4):e20190006. doi: 10.1084/jem.20190006. J Exp Med. 2020. PMID: 31985756 Free PMC article.
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice.
Rios JJ, Denton K, Russell J, Kozlitina J, Ferreira CR, Lewanda AF, Mayfield JE, Moresco E, Ludwig S, Tang M, Li X, Lyon S, Khanshour A, Paria N, Khalid A, Li Y, Xie X, Feng JQ, Xu Q, Lu Y, Hammer RE, Wise CA, Beutler B. Rios JJ, et al. Among authors: beutler b. J Bone Miner Res. 2021 Aug;36(8):1548-1565. doi: 10.1002/jbmr.4323. Epub 2021 May 10. J Bone Miner Res. 2021. PMID: 33905568 Free PMC article.
Saturation mutagenesis defines novel mouse models of severe spine deformity.
Rios JJ, Denton K, Yu H, Manickam K, Garner S, Russell J, Ludwig S, Rosenfeld JA, Liu P, Munch J, Sucato DJ, Beutler B, Wise CA. Rios JJ, et al. Among authors: beutler b. Dis Model Mech. 2021 Jun 1;14(6):dmm048901. doi: 10.1242/dmm.048901. Epub 2021 Jun 18. Dis Model Mech. 2021. PMID: 34142127 Free PMC article.
Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli FM, Afqi M, Sairafi MH, Almuntashri M, Alharby E, Alharbi G, Abdud Samad F, Hashmi JA, Zaytuni D, Bahashwan AA, Choi JH, Peake RWA, Beutler B, Almontashiri NAM. Al-Fadhli FM, et al. Among authors: beutler b. Clin Genet. 2021 May;99(5):694-703. doi: 10.1111/cge.13930. Epub 2021 Feb 17. Clin Genet. 2021. PMID: 33495992
[No title available]
[No authors listed] [No authors listed] PMID: 34079997
KDM5A mutations identified in autism spectrum disorder using forward genetics.
El Hayek L, Tuncay IO, Nijem N, Russell J, Ludwig S, Kaur K, Li X, Anderton P, Tang M, Gerard A, Heinze A, Zacher P, Alsaif HS, Rad A, Hassanpour K, Abbaszadegan MR, Washington C, DuPont BR, Louie RJ; CAUSES Study, Couse M, Faden M, Rogers RC, Abou Jamra R, Elias ER, Maroofian R, Houlden H, Lehman A, Beutler B, Chahrour MH. El Hayek L, et al. Among authors: beutler b. Elife. 2020 Dec 22;9:e56883. doi: 10.7554/eLife.56883. Elife. 2020. PMID: 33350388 Free PMC article.
478 results