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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: rivas c. Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001. Am J Hum Genet. 2018. PMID: 30526868 Free PMC article.
A mouse model of Proteus syndrome.
Lindhurst MJ, Brinster LR, Kondolf HC, Shwetar JJ, Yourick MR, Shiferaw H, Keppler-Noreuil KM, Elliot G, Rivas C, Garrett L, Gomez-Rodriguez J, Sebire NJ, Hewitt SM, Schwartzberg PL, Biesecker LG. Lindhurst MJ, et al. Among authors: rivas c. Hum Mol Genet. 2019 Sep 1;28(17):2920-2936. doi: 10.1093/hmg/ddz116. Hum Mol Genet. 2019. PMID: 31194862 Free PMC article.
Loci associated with skin pigmentation identified in African populations.
Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Crawford NG, et al. Among authors: rivas c. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Science. 2017. PMID: 29025994 Free PMC article.
Trypanosoma cruzi-derived exovesicles contribute to parasite infection, tissue damage, and apoptotic cell death during ex vivo infection of human placental explants.
Fernández-Moya A, Oviedo B, Liempi A, Guerrero-Muñoz J, Rivas C, Arregui R, Araneda S, Cornet-Gomez A, Maya JD, Müller M, Osuna A, Castillo C, Kemmerling U. Fernández-Moya A, et al. Among authors: rivas c. Front Cell Infect Microbiol. 2024 Oct 14;14:1437339. doi: 10.3389/fcimb.2024.1437339. eCollection 2024. Front Cell Infect Microbiol. 2024. PMID: 39469456 Free PMC article.
Effectiveness of the original monovalent mRNA COVID-19 vaccination series against hospitalization for COVID-19-associated venous thromboembolism.
Hager DN, Zhu Y, Sohn I, Stubblefield WB, Streiff MB, Gaglani M, Steingrub JS, Duggal A, Felzer JR, O'Rourke M, Peltan ID, Mohamed A, Stiller R, Wilson JG, Qadir N, Ginde AA, Zepeski AE, Mallow C, Lauring AS, Johnson NJ, Gibbs KW, Kwon JH, Self WH; Investigating Respiratory Viruses in the Acutely Ill (IVY) Network. Hager DN, et al. J Infect Dis. 2024 Oct 15:jiae502. doi: 10.1093/infdis/jiae502. Online ahead of print. J Infect Dis. 2024. PMID: 39405261
601 results