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Annals of Clinical and Translational Neurology|May 23, 2015
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementTobias B Haack, Christopher B Jackson, Kei Murayama, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
G3 (Bethesda, Md.)|November 6, 2016
The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic AlterationsHelmut Fuchs, Sibylle Sabrautzki, Gerhard K H Przemeck, et al.
Nature|September 17, 2013
Transcriptome and genome sequencing uncovers functional variation in humansTuuli Lappalainen, Michael Sammeth, Marc R Friedländer, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Nature Genetics|May 26, 2015
Transcriptional regulator PRDM12 is essential for human pain perceptionYa-Chun Chen, Michaela Auer-Grumbach, Shinya Matsukawa, et al.
Diabetes|March 26, 2017
A Low-Frequency Inactivating <i>AKT2</i> Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes RiskAlisa Manning, Heather M Highland, Jessica Gasser, et al.
Scientific Data|January 24, 2018
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controlsJason Flannick, Christian Fuchsberger, Anubha Mahajan, et al.
Nature|July 12, 2016
The genetic architecture of type 2 diabetesChristian Fuchsberger, Jason Flannick, Tanya M Teslovich, et al.
Scientific Data|December 20, 2017
Sequence data and association statistics from 12,940 type 2 diabetes cases and controlsJason Flannick, Christian Fuchsberger, Anubha Mahajan, et al.
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