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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: galas dj. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
The digital code of DNA.
Hood L, Galas D. Hood L, et al. Nature. 2003 Jan 23;421(6921):444-8. doi: 10.1038/nature01410. Nature. 2003. PMID: 12540920 Review.
Systems biology at the Institute for Systems Biology.
Hood L, Rowen L, Galas DJ, Aitchison JD. Hood L, et al. Among authors: galas dj. Brief Funct Genomic Proteomic. 2008 Jul;7(4):239-48. doi: 10.1093/bfgp/eln027. Epub 2008 Jun 25. Brief Funct Genomic Proteomic. 2008. PMID: 18579616
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Roach JC, et al. Among authors: galas dj. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Science. 2010. PMID: 20220176 Free PMC article.
Diseases as network perturbations.
del Sol A, Balling R, Hood L, Galas D. del Sol A, et al. Curr Opin Biotechnol. 2010 Aug;21(4):566-71. doi: 10.1016/j.copbio.2010.07.010. Epub 2010 Aug 13. Curr Opin Biotechnol. 2010. PMID: 20709523 Review.
Extracellular microRNA: a new source of biomarkers.
Etheridge A, Lee I, Hood L, Galas D, Wang K. Etheridge A, et al. Mutat Res. 2011 Dec 1;717(1-2):85-90. doi: 10.1016/j.mrfmmm.2011.03.004. Epub 2011 Mar 23. Mutat Res. 2011. PMID: 21402084 Free PMC article. Review.
Chromosomal haplotypes by genetic phasing of human families.
Roach JC, Glusman G, Hubley R, Montsaroff SZ, Holloway AK, Mauldin DE, Srivastava D, Garg V, Pollard KS, Galas DJ, Hood L, Smit AF. Roach JC, et al. Among authors: galas dj. Am J Hum Genet. 2011 Sep 9;89(3):382-97. doi: 10.1016/j.ajhg.2011.07.023. Am J Hum Genet. 2011. PMID: 21855840 Free PMC article.
RNASEQR--a streamlined and accurate RNA-seq sequence analysis program.
Chen LY, Wei KC, Huang AC, Wang K, Huang CY, Yi D, Tang CY, Galas DJ, Hood LE. Chen LY, et al. Among authors: galas dj. Nucleic Acids Res. 2012 Mar;40(6):e42. doi: 10.1093/nar/gkr1248. Epub 2011 Dec 22. Nucleic Acids Res. 2012. PMID: 22199257 Free PMC article.
148 results