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Pre-capture multiplexing improves efficiency and cost-effectiveness of targeted genomic enrichment.
BMC Genomics. 2012 Nov 14;13:618. doi: 10.1186/1471-2164-13-618.
BMC Genomics. 2012.
PMID: 23148716
Free PMC article.
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.
Shearer AE, et al.
Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.
Am J Hum Genet. 2014.
PMID: 25262649
Free PMC article.
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ.
Azaiez H, et al.
PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar.
PLoS Genet. 2015.
PMID: 25816005
Free PMC article.
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