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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. 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.
Common ancestry of the CENP-A chaperones Scm3 and HJURP.
Sanchez-Pulido L, Pidoux AL, Ponting CP, Allshire RC. Sanchez-Pulido L, et al. Cell. 2009 Jun 26;137(7):1173-4. doi: 10.1016/j.cell.2009.06.010. Cell. 2009. PMID: 19563746 Free PMC article. No abstract available.
Cdc45: the missing RecJ ortholog in eukaryotes?
Sanchez-Pulido L, Ponting CP. Sanchez-Pulido L, et al. Bioinformatics. 2011 Jul 15;27(14):1885-8. doi: 10.1093/bioinformatics/btr332. Epub 2011 Jun 8. Bioinformatics. 2011. PMID: 21653514
Structure and evolutionary history of DISC1.
Sanchez-Pulido L, Ponting CP. Sanchez-Pulido L, et al. Hum Mol Genet. 2011 Oct 15;20(R2):R175-81. doi: 10.1093/hmg/ddr374. Epub 2011 Aug 18. Hum Mol Genet. 2011. PMID: 21852244 Review.
Nprl3 is required for normal development of the cardiovascular system.
Kowalczyk MS, Hughes JR, Babbs C, Sanchez-Pulido L, Szumska D, Sharpe JA, Sloane-Stanley JA, Morriss-Kay GM, Smoot LB, Roberts AE, Watkins H, Bhattacharya S, Gibbons RJ, Ponting CP, Wood WG, Higgs DR. Kowalczyk MS, et al. Mamm Genome. 2012 Aug;23(7-8):404-15. doi: 10.1007/s00335-012-9398-y. Epub 2012 Apr 27. Mamm Genome. 2012. PMID: 22538705
A common ancestry for BAP1 and Uch37 regulators.
Sanchez-Pulido L, Kong L, Ponting CP. Sanchez-Pulido L, et al. Bioinformatics. 2012 Aug 1;28(15):1953-6. doi: 10.1093/bioinformatics/bts319. Epub 2012 May 29. Bioinformatics. 2012. PMID: 22645167
79 results