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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.
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM. Züchner S, et al. Nat Genet. 2004 May;36(5):449-51. doi: 10.1038/ng1341. Epub 2004 Apr 4. Nat Genet. 2004. PMID: 15064763 No abstract available.
Emerging pathways for hereditary axonopathies.
Züchner S, Vance JM. Züchner S, et al. J Mol Med (Berl). 2005 Dec;83(12):935-43. doi: 10.1007/s00109-005-0694-9. Epub 2005 Aug 31. J Mol Med (Berl). 2005. PMID: 16133422 Review.
SNPselector: a web tool for selecting SNPs for genetic association studies.
Xu H, Gregory SG, Hauser ER, Stenger JE, Pericak-Vance MA, Vance JM, Züchner S, Hauser MA. Xu H, et al. Among authors: zuchner s. Bioinformatics. 2005 Nov 15;21(22):4181-6. doi: 10.1093/bioinformatics/bti682. Epub 2005 Sep 22. Bioinformatics. 2005. PMID: 16179360 Free PMC article.
399 results