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Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Bell CJ, et al. Among authors: kingsmore sf. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.
Genomic convergence analysis of schizophrenia: mRNA sequencing reveals altered synaptic vesicular transport in post-mortem cerebellum.
Mudge J, Miller NA, Khrebtukova I, Lindquist IE, May GD, Huntley JJ, Luo S, Zhang L, van Velkinburgh JC, Farmer AD, Lewis S, Beavis WD, Schilkey FD, Virk SM, Black CF, Myers MK, Mader LC, Langley RJ, Utsey JP, Kim RW, Roberts RC, Khalsa SK, Garcia M, Ambriz-Griffith V, Harlan R, Czika W, Martin S, Wolfinger RD, Perrone-Bizzozero NI, Schroth GP, Kingsmore SF. Mudge J, et al. Among authors: kingsmore sf. PLoS One. 2008;3(11):e3625. doi: 10.1371/journal.pone.0003625. Epub 2008 Nov 5. PLoS One. 2008. PMID: 18985160 Free PMC article.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Soden SE, et al. Among authors: kingsmore sf. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076. Sci Transl Med. 2014. PMID: 25473036 Free PMC article.
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. Miller NA, et al. Among authors: kingsmore sf. Genome Med. 2015 Sep 30;7:100. doi: 10.1186/s13073-015-0221-8. Genome Med. 2015. PMID: 26419432 Free PMC article.
Management of High-Throughput DNA Sequencing Projects: Alpheus.
Miller NA, Kingsmore SF, Farmer A, Langley RJ, Mudge J, Crow JA, Gonzalez AJ, Schilkey FD, Kim RJ, van Velkinburgh J, May GD, Black CF, Myers MK, Utsey JP, Frost NS, Sugarbaker DJ, Bueno R, Gullans SR, Baxter SM, Day SW, Retzel EF. Miller NA, et al. Among authors: kingsmore sf. J Comput Sci Syst Biol. 2008 Dec 26;1:132. doi: 10.4172/jcsb.1000013. J Comput Sci Syst Biol. 2008. PMID: 20151039 Free PMC article.
Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis.
Baranzini SE, Mudge J, van Velkinburgh JC, Khankhanian P, Khrebtukova I, Miller NA, Zhang L, Farmer AD, Bell CJ, Kim RW, May GD, Woodward JE, Caillier SJ, McElroy JP, Gomez R, Pando MJ, Clendenen LE, Ganusova EE, Schilkey FD, Ramaraj T, Khan OA, Huntley JJ, Luo S, Kwok PY, Wu TD, Schroth GP, Oksenberg JR, Hauser SL, Kingsmore SF. Baranzini SE, et al. Among authors: kingsmore sf. Nature. 2010 Apr 29;464(7293):1351-6. doi: 10.1038/nature08990. Nature. 2010. PMID: 20428171 Free PMC article.
226 results