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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: martin e. 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.
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. Among authors: martin er. 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.
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: martin e. PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. PLoS One. 2009. PMID: 20011588 Free PMC article.
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Norton N, et al. Among authors: martin e. Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353195 Free PMC article.
Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease.
Kunkle BW, Carney RM, Kohli MA, Naj AC, Hamilton-Nelson KL, Whitehead PL, Wang L, Lang R, Cuccaro ML, Vance JM, Byrd GS, Beecham GW, Gilbert JR, Martin ER, Haines JL, Pericak-Vance MA. Kunkle BW, et al. Among authors: martin er. Neurosci Lett. 2017 May 10;649:124-129. doi: 10.1016/j.neulet.2017.04.014. Epub 2017 Apr 8. Neurosci Lett. 2017. PMID: 28400126
Gene-gene interaction between FGF20 and MAOB in Parkinson disease.
Gao X, Scott WK, Wang G, Mayhew G, Li YJ, Vance JM, Martin ER. Gao X, et al. Among authors: martin er. Ann Hum Genet. 2008 Mar;72(Pt 2):157-62. doi: 10.1111/j.1469-1809.2007.00418.x. Epub 2008 Jan 20. Ann Hum Genet. 2008. PMID: 18205889
6,151 results