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Page 1
Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.
Sen SK, Barb JJ, Cherukuri PF, Accame DS, Elkahloun AG, Singh LN, Lee-Lin SQ; NISC Comparative Sequencing Program; Kolodgie FD, Cheng Q, Zhao X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG. Sen SK, et al. Among authors: cherukuri pf. BMC Genomics. 2014 Mar 14;15:198. doi: 10.1186/1471-2164-15-198. BMC Genomics. 2014. PMID: 24628908 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: cherukuri pf. 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.
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. Among authors: cherukuri pf. 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.
Incidental medical information in whole-exome sequencing.
Solomon BD, Hadley DW, Pineda-Alvarez DE; NISC Comparative Sequencing Program; Kamat A, Teer JK, Cherukuri PF, Hansen NF, Cruz P, Young AC, Berkman BE, Chandrasekharappa SC, Mullikin JC. Solomon BD, et al. Among authors: cherukuri pf. Pediatrics. 2012 Jun;129(6):e1605-11. doi: 10.1542/peds.2011-0080. Epub 2012 May 14. Pediatrics. 2012. PMID: 22585771 Free PMC article.
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. Among authors: cherukuri pf. Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675082 Free PMC article.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Pierson TM, et al. Among authors: cherukuri pf. Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453856 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: cherukuri pf. 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.
29 results