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MAT2A mutations predispose individuals to thoracic aortic aneurysms.
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J; GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Montalcino Aortic Consortium; Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. Guo DC, et al. Among authors: swindell ec. Am J Hum Genet. 2015 Jan 8;96(1):170-7. doi: 10.1016/j.ajhg.2014.11.015. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557781 Free PMC article.
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. Kuang SQ, et al. Among authors: swindell ec. J Clin Invest. 2016 Mar 1;126(3):948-61. doi: 10.1172/JCI83778. Epub 2016 Feb 8. J Clin Invest. 2016. PMID: 26854927 Free PMC article.
Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.
Chiquet BT, Yuan Q, Swindell EC, Maili L, Plant R, Dyke J, Boyer R, Teichgraeber JF, Greives MR, Mulliken JB, Letra A, Blanton SH, Hecht JT. Chiquet BT, et al. Among authors: swindell ec. Eur J Hum Genet. 2018 Oct;26(10):1441-1450. doi: 10.1038/s41431-018-0192-5. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899370 Free PMC article.
Role of WNT10A in failure of tooth development in humans and zebrafish.
Yuan Q, Zhao M, Tandon B, Maili L, Liu X, Zhang A, Baugh EH, Tran T, Silva RM, Hecht JT, Swindell EC, Wagner DS, Letra A. Yuan Q, et al. Among authors: swindell ec. Mol Genet Genomic Med. 2017 Nov;5(6):730-741. doi: 10.1002/mgg3.332. Epub 2017 Sep 14. Mol Genet Genomic Med. 2017. PMID: 29178643 Free PMC article.
Eye formation in the absence of retina.
Swindell EC, Liu C, Shah R, Smith AN, Lang RA, Jamrich M. Swindell EC, et al. Dev Biol. 2008 Oct 1;322(1):56-64. doi: 10.1016/j.ydbio.2008.07.009. Epub 2008 Jul 16. Dev Biol. 2008. PMID: 18675797 Free PMC article.
28 results