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Page 1
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus SK, Lundh L, Watkins-Chow DE, Baxter LL, Pairo-Castineira E, Nisc Comparative Sequencing Program, Jackson IJ, Oetting WS, Pavan WJ, Adams DR. Loftus SK, et al. Among authors: nisc comparative sequencing program. Hum Mutat. 2021 Oct;42(10):1239-1253. doi: 10.1002/humu.24257. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34246199 Free PMC article.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Nisc Comparative Sequencing Program, Malicdan MCV, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: nisc comparative sequencing program. Genet Med. 2017 Aug;19(8):875-882. doi: 10.1038/gim.2016.204. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125082 Free PMC article.
Somatic mutations in MAP3K5 attenuate its proapoptotic function in melanoma through increased binding to thioredoxin.
Prickett TD, Zerlanko B, Gartner JJ, Parker SCJ, Dutton-Regester K, Lin JC, Teer JK, Wei X, Jiang J, Nisc Comparative Sequencing Program, Chen G, Davies MA, Gershenwald JE, Robinson W, Robinson S, Hayward NK, Rosenberg SA, Margulies EH, Samuels Y. Prickett TD, et al. Among authors: nisc comparative sequencing program. J Invest Dermatol. 2014 Feb;134(2):452-460. doi: 10.1038/jid.2013.365. Epub 2013 Sep 5. J Invest Dermatol. 2014. PMID: 24008424 Free PMC article.
Revealing mammalian evolutionary relationships by comparative analysis of gene clusters.
Song G, Riemer C, Dickins B, Kim HL, Zhang L, Zhang Y, Hsu CH, Hardison RC, Nisc Comparative Sequencing Program, Green ED, Miller W. Song G, et al. Among authors: nisc comparative sequencing program. Genome Biol Evol. 2012;4(4):586-601. doi: 10.1093/gbe/evs032. Epub 2012 Mar 27. Genome Biol Evol. 2012. PMID: 22454131 Free PMC article.
Personalized genomic medicine: lessons from the exome.
Solomon BD, Pineda-Alvarez DE, Hadley DW, NISC Comparative Sequencing Program, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Blakesley RW, Lanpher B, Mayfield Gibson S, Sincan M, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: nisc comparative sequencing program. Mol Genet Metab. 2011 Sep-Oct;104(1-2):189-91. doi: 10.1016/j.ymgme.2011.06.022. Epub 2011 Jul 5. Mol Genet Metab. 2011. PMID: 21767969 Free PMC article.