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Quantification of rare allelic variants from pooled genomic DNA.
Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. Druley TE, et al. Nat Methods. 2009 Apr;6(4):263-5. doi: 10.1038/nmeth.1307. Epub 2009 Mar 1. Nat Methods. 2009. PMID: 19252504 Free PMC article.
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
Chatterjee R, Ramos E, Hoffman M, VanWinkle J, Martin DR, Davis TK, Hoshi M, Hmiel SP, Beck A, Hruska K, Coplen D, Liapis H, Mitra R, Druley T, Austin P, Jain S. Chatterjee R, et al. Hum Genet. 2012 Nov;131(11):1725-38. doi: 10.1007/s00439-012-1181-3. Epub 2012 Jun 23. Hum Genet. 2012. PMID: 22729463 Free PMC article.
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A. Wambach JA, et al. Among authors: druley te. Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19. Pediatrics. 2012. PMID: 23166334 Free PMC article.
Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
Lee JH, Cheng R, Honig LS, Feitosa M, Kammerer CM, Kang MS, Schupf N, Lin SJ, Sanders JL, Bae H, Druley T, Perls T, Christensen K, Province M, Mayeux R. Lee JH, et al. Front Genet. 2014 Jan 17;4:310. doi: 10.3389/fgene.2013.00310. eCollection 2013. Front Genet. 2014. PMID: 24478790 Free PMC article.
69 results