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Accurate whole human genome sequencing using reversible terminator chemistry.
Nature. 2008 Nov 6;456(7218):53-9. doi: 10.1038/nature07517.
Nature. 2008.
PMID: 18987734
Free PMC article.
Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.
Cherukuri PF, Maduro V, Fuentes-Fajardo KV, Lam K; NISC Comparative Sequencing Program; Adams DR, Tifft CJ, Mullikin JC, Gahl WA, Boerkoel CF.
Cherukuri PF, et al. Among authors: fuentes fajardo kv.
BMC Genomics. 2015 Nov 25;16:998. doi: 10.1186/s12864-015-2107-y.
BMC Genomics. 2015.
PMID: 26602380
Free PMC article.
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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program.
Pierson TM, et al.
Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7.
Eur J Hum Genet. 2012.
PMID: 22146942
Free PMC article.
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Analysis of DNA sequence variants detected by high-throughput sequencing.
Adams DR, Sincan M, Fuentes Fajardo K, Mullikin JC, Pierson TM, Toro C, Boerkoel CF, Tifft CJ, Gahl WA, Markello TC.
Adams DR, et al.
Hum Mutat. 2012 Apr;33(4):599-608. doi: 10.1002/humu.22035. Epub 2012 Feb 28.
Hum Mutat. 2012.
PMID: 22290882
Free PMC article.
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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.
Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer JK, Mullikin JC; NISC Comparative Sequencing Program; Boerkoel CF, Gahl WA, Tifft CJ.
Pierson TM, et al.
Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6.
Neurology. 2012.
PMID: 22675082
Free PMC article.
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Detecting false-positive signals in exome sequencing.
Fuentes Fajardo KV, Adams D; NISC Comparative Sequencing Program; Mason CE, Sincan M, Tifft C, Toro C, Boerkoel CF, Gahl W, Markello T.
Fuentes Fajardo KV, et al.
Hum Mutat. 2012 Apr;33(4):609-13. doi: 10.1002/humu.22033. Epub 2012 Mar 5.
Hum Mutat. 2012.
PMID: 22294350
Free PMC article.
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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.
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.
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GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program; Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.
Pierson TM, et al.
Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198. doi: 10.1002/acn3.39.
Ann Clin Transl Neurol. 2014.
PMID: 24839611
Free PMC article.
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