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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex.
Mascibroda LG, Shboul M, Elrod ND, Colleaux L, Hamamy H, Huang KL, Peart N, Singh MK, Lee H, Merriman B, Jodoin JN, Sitaram P, Lee LA, Fathalla R, Al-Rawashdeh B, Ababneh O, El-Khateeb M, Escande-Beillard N, Nelson SF, Wu Y, Tong L, Kenney LJ, Roy S, Russell WK, Amiel J, Reversade B, Wagner EJ. Mascibroda LG, et al. Among authors: peart n. Nat Commun. 2022 Oct 13;13(1):6054. doi: 10.1038/s41467-022-33547-8. Nat Commun. 2022. PMID: 36229431 Free PMC article.
Non-mRNA 3' end formation: how the other half lives.
Peart N, Sataluri A, Baillat D, Wagner EJ. Peart N, et al. Wiley Interdiscip Rev RNA. 2013 Sep-Oct;4(5):491-506. doi: 10.1002/wrna.1174. Epub 2013 Jun 10. Wiley Interdiscip Rev RNA. 2013. PMID: 23754627 Free PMC article. Review.
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ. Rohacek AM, et al. Among authors: peart n. Dev Cell. 2017 Nov 6;43(3):318-331.e5. doi: 10.1016/j.devcel.2017.09.026. Epub 2017 Oct 26. Dev Cell. 2017. PMID: 29107558 Free PMC article.
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