Züchner S - Search Results

1

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project. Norton N, et al. Among authors: zuchner s. Circ Cardiovasc Genet. 2012 Apr 1;5(2):167-74. doi: 10.1161/CIRCGENETICS.111.961805. Epub 2012 Feb 15. Circ Cardiovasc Genet. 2012. PMID: 22337857 Free PMC article.

2

Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease.

Liang X, Martin ER, Schnetz-Boutaud N, Bartlett J, Anderson B, Züchner S, Gwirtsman H, Schmechel D, Carney R, Gilbert JR, Pericak-Vance MA, Haines JL. Liang X, et al. Among authors: zuchner s. Hum Mutat. 2007 Nov;28(11):1065-73. doi: 10.1002/humu.20567. Hum Mutat. 2007. PMID: 17573676

3

Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, Martin ER, Vance JM. Wang G, et al. Among authors: zuchner s. Am J Hum Genet. 2008 Feb;82(2):283-9. doi: 10.1016/j.ajhg.2007.09.021. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252210 Free PMC article.

4

Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

Züchner S, Gilbert JR, Martin ER, Leon-Guerrero CR, Xu PT, Browning C, Bronson PG, Whitehead P, Schmechel DE, Haines JL, Pericak-Vance MA. Züchner S, et al. Ann Hum Genet. 2008 Nov;72(Pt 6):725-31. doi: 10.1111/j.1469-1809.2008.00474.x. Epub 2008 Aug 28. Ann Hum Genet. 2008. PMID: 18761660 Free PMC article.

5

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

Liang X, Slifer M, Martin ER, Schnetz-Boutaud N, Bartlett J, Anderson B, Züchner S, Gwirtsman H, Gilbert JR, Pericak-Vance MA, Haines JL. Liang X, et al. Among authors: zuchner s. Hum Mutat. 2009 Mar;30(3):463-71. doi: 10.1002/humu.20953. Hum Mutat. 2009. PMID: 19241460 Free PMC article.

6

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.

7

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.

8

A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease.

Bademci G, Edwards TL, Torres AL, Scott WK, Züchner S, Martin ER, Vance JM, Wang L. Bademci G, et al. Among authors: zuchner s. Hum Mutat. 2010 Oct;31(10):E1767-71. doi: 10.1002/humu.21351. Hum Mutat. 2010. PMID: 20809526 Free PMC article.

9

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies.

Martin ER, Kinnamon DD, Schmidt MA, Powell EH, Zuchner S, Morris RW. Martin ER, et al. Among authors: zuchner s. Bioinformatics. 2010 Nov 15;26(22):2803-10. doi: 10.1093/bioinformatics/btq526. Epub 2010 Sep 21. Bioinformatics. 2010. PMID: 20861027 Free PMC article.

10

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Montenegro G, et al. Among authors: zuchner s. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20. Ann Neurol. 2011. PMID: 21254193 Free PMC article.

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