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Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Among authors: zuchner s. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Exome sequencing of a multigenerational human pedigree.
Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. Hedges DJ, et al. Among authors: zuchner s. PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. PLoS One. 2009. PMID: 20011588 Free PMC article.
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW, Wang L, Züchner S, Konidari I, Wang G, Singer C, Nahab F, Scott B, Stajich JM, Pericak-Vance M, Haines J, Vance JM, Martin ER. Edwards TL, et al. Among authors: zuchner s. Ann Hum Genet. 2010 Mar;74(2):97-109. doi: 10.1111/j.1469-1809.2009.00560.x. Epub 2010 Jan 8. Ann Hum Genet. 2010. PMID: 20070850 Free PMC article.
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS 3rd, Ozomaro U, Huang J, Montenegro G, Kushman A, Citrigno L, Price J, Speziani F, Pericak-Vance MA, Züchner S. McCorquodale DS 3rd, et al. Among authors: zuchner s. Clin Genet. 2011 Jun;79(6):523-30. doi: 10.1111/j.1399-0004.2010.01501.x. Clin Genet. 2011. PMID: 20718791 Free PMC article.
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Züchner S, et al. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295283 Free PMC article.
395 results