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31 results

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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: sincan m. 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.
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: sincan m. 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.
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. Among authors: sincan m. 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.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Among authors: sincan m. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Markello TC, Carlson-Donohoe H, Sincan M, Adams D, Bodine DM, Farrar JE, Vlachos A, Lipton JM, Auerbach AD, Ostrander EA, Chandrasekharappa SC, Boerkoel CF, Gahl WA. Markello TC, et al. Among authors: sincan m. Mol Genet Metab. 2012 Apr;105(4):665-71. doi: 10.1016/j.ymgme.2011.12.015. Epub 2011 Dec 24. Mol Genet Metab. 2012. PMID: 22277120 Free PMC article.
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. Among authors: sincan m. 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.
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: sincan m. Neurology. 2012 Jul 10;79(2):123-6. doi: 10.1212/WNL.0b013e31825f047a. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675082 Free PMC article.
31 results