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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW, Millichap JJ, Soares DC, Chin R, McLellan A, FitzPatrick DR, Elmslie F, Lees MM, Schaefer GB; DDD study; Abbott CM. Lam WW, et al. Among authors: soares dc. Mol Genet Genomic Med. 2016 Apr 3;4(4):465-74. doi: 10.1002/mgg3.219. eCollection 2016 Jul. Mol Genet Genomic Med. 2016. PMID: 27441201 Free PMC article.
eEF1A2 and neuronal degeneration.
Abbott CM, Newbery HJ, Squires CE, Brownstein D, Griffiths LA, Soares DC. Abbott CM, et al. Among authors: soares dc. Biochem Soc Trans. 2009 Dec;37(Pt 6):1293-7. doi: 10.1042/BST0371293. Biochem Soc Trans. 2009. PMID: 19909265 Free article.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG; UK10K; FitzPatrick DR. Rainger J, et al. Among authors: soares dc. Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28493397 Free PMC article.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A; UK10K; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, van Heyningen V, Taylor MS, Yakut T, Knappskog PM, Hurles ME, Ponting CP, Lupski JR, Houge G, FitzPatrick DR. Rainger J, et al. Among authors: soares dc. Am J Hum Genet. 2014 Jun 5;94(6):915-23. doi: 10.1016/j.ajhg.2014.05.005. Am J Hum Genet. 2014. PMID: 24906020 Free PMC article.
133 results