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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. Among authors: blakesley rw. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 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: blakesley rw. 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.
Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.
Bentley AR, Chen G, Shriner D, Doumatey AP, Zhou J, Huang H, Mullikin JC, Blakesley RW, Hansen NF, Bouffard GG, Cherukuri PF, Maskeri B, Young AC, Adeyemo A, Rotimi CN. Bentley AR, et al. Among authors: blakesley rw. PLoS Genet. 2014 Mar 6;10(3):e1004190. doi: 10.1371/journal.pgen.1004190. eCollection 2014 Mar. PLoS Genet. 2014. PMID: 24603370 Free PMC article.
The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.
Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program; Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED. Biesecker LG, et al. Among authors: blakesley rw. Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14. Genome Res. 2009. PMID: 19602640 Free PMC article.
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Le Gallo M, O'Hara AJ, Rudd ML, Urick ME, Hansen NF, O'Neil NJ, Price JC, Zhang S, England BM, Godwin AK, Sgroi DC; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program; Hieter P, Mullikin JC, Merino MJ, Bell DW. Le Gallo M, et al. Nat Genet. 2012 Dec;44(12):1310-5. doi: 10.1038/ng.2455. Epub 2012 Oct 28. Nat Genet. 2012. PMID: 23104009 Free PMC article.
Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma.
Gartner JJ, Parker SC, Prickett TD, Dutton-Regester K, Stitzel ML, Lin JC, Davis S, Simhadri VL, Jha S, Katagiri N, Gotea V, Teer JK, Wei X, Morken MA, Bhanot UK; NISC Comparative Sequencing Program; Chen G, Elnitski LL, Davies MA, Gershenwald JE, Carter H, Karchin R, Robinson W, Robinson S, Rosenberg SA, Collins FS, Parmigiani G, Komar AA, Kimchi-Sarfaty C, Hayward NK, Margulies EH, Samuels Y. Gartner JJ, et al. Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13481-6. doi: 10.1073/pnas.1304227110. Epub 2013 Jul 30. Proc Natl Acad Sci U S A. 2013. PMID: 23901115 Free PMC article.
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Among authors: blakesley rw. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Gonsalves SG, et al. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. Anesthesiology. 2013. PMID: 24195946 Free PMC article.
An intermediate grade of finished genomic sequence suitable for comparative analyses.
Blakesley RW, Hansen NF, Mullikin JC, Thomas PJ, McDowell JC, Maskeri B, Young AC, Benjamin B, Brooks SY, Coleman BI, Gupta J, Ho SL, Karlins EM, Maduro QL, Stantripop S, Tsurgeon C, Vogt JL, Walker MA, Masiello CA, Guan X; NISC Comparative Sequencing Program; Bouffard GG, Green ED. Blakesley RW, et al. Genome Res. 2004 Nov;14(11):2235-44. doi: 10.1101/gr.2648404. Epub 2004 Oct 12. Genome Res. 2004. PMID: 15479945 Free PMC article.
Effort required to finish shotgun-generated genome sequences differs significantly among vertebrates.
Blakesley RW, Hansen NF, Gupta J, McDowell JC, Maskeri B, Barnabas BB, Brooks SY, Coleman H, Haghighi P, Ho SL, Schandler K, Stantripop S, Vogt JL, Thomas PJ; NISC Comparative Sequencing Program; Bouffard GG, Green ED. Blakesley RW, et al. BMC Genomics. 2010 Jan 11;11:21. doi: 10.1186/1471-2164-11-21. BMC Genomics. 2010. PMID: 20064230 Free PMC article.
62 results