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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.
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M. Sirmaci A, et al. Among authors: zuchner s. Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451170 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.
Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.
McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S. McCorquodale DS 3rd, et al. Among authors: zuchner s. J Neurol. 2011 Jul;258(7):1234-9. doi: 10.1007/s00415-011-5910-7. Epub 2011 Jan 22. J Neurol. 2011. PMID: 21258814 Free PMC article.
399 results