Recent Broad Publications

Comparative analysis of RNA sequencing methods for degraded or low-input samples.
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Small-Molecule Inhibitors of Cytokine-Mediated STAT1 Signal Transduction in β-Cells with Improved Aqueous Solubility.
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Transcriptional and Epigenetic Dynamics during Specification of Human Embryonic Stem Cells.
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Entering the age of whole-exome sequencing in rheumatic diseases: Novel insights into disease pathogenicity.
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Young and old genetically heterogeneous HET3 mice on a rapamycin diet are glucose intolerant but insulin sensitive.
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Scientific Publications

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Filters: Author is Thorburn, DR [Clear All Filters]

2013

Targeted exome sequencing of suspected mitochondrial disorders.Lieber, DS, Calvo SE, Shanahan K., Slate NG, Liu S., Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, and Mootha VK Neurology, 2013/05/07, Volume 80, Issue 19, p.1762-1770, (2013) Read More / View Supplemental Materials

2011

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.Tucker, EJ, Hershman SG, Köhrer C., Belcher-Timme CA, Patel J., Goldberger OA, Christodoulou J., Silberstein JM, McKenzie M., Ryan MT, Compton AG, Jaffe JD, Carr SA, Calvo SE, RajBhandary UL, Thorburn DR, and Mootha VK Cell metabolism, 2011/09/07, Volume 14, Issue 3, p.428-34, (2011) Read More / View Supplemental Materials

2008

A mitochondrial protein compendium elucidates complex I disease biology.Pagliarini, DJ, Calvo SE, Chang B., Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C., Boneh A., Chen WK, Hill DE, Vidal M., Evans JG, Thorburn DR, Carr SA, and Mootha VK Cell, 2008/07/11, Volume 134, Issue 1, p.112-23, (2008) Read More / View Supplemental Materials