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Characterization of a novel tumorigenic esophageal adenocarcinoma cell line: OANC1.
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Dig Dis Sci. 2013 Sep 29. [Epub ahead of print]
Deep sequencing identifies two genotypes and high viral genetic diversity of human pegivirus (GB virus C) among rural Ugandan patients.
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A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
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J Am Coll Cardiol. 2013 Sep 16. [Epub ahead of print]
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Atherosclerosis. 2013 Oct;230(2):249-55.
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Am J Hum Genet. 2013 Sep 25. [Epub ahead of print]
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Am J Hum Genet. 2013 Sep 25. [Epub ahead of print]
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Genome Med. 2013 Sep 30;5(9):90.
Characterization of multi-drug resistant Mycobacterium tuberculosis from immigrants residing in the USA using Ion Torrent full-gene sequencing.
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Epidemiol Infect. 2013 Sep 27:1-6.
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
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Arterioscler Thromb Vasc Biol. 2013 Sep 26. [Epub ahead of print]
Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm.
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The Cancer Genome Atlas pan-cancer analysis project.
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Nat Genet. 2013 Sep 26;45(10):1113-20.
Analysis of microRNA expression profile by small RNA sequencing in Down syndrome fetuses.
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Int J Mol Med. 2013 Nov;32(5):1115-1125.
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
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Genet Med. 2013 Sep 26. [Epub ahead of print]
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A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
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PLOS One. 2013 Sep 17;8(9):e74728.
Identification and characterization of cancer mutations in Japanese lung adenocarcinoma without sequencing of normal tissue counterparts.
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PLOS One. 2013 Sep 12;8(9):e73484.
RNA-seq reveals spliceosome and proteasome genes as most consistent transcripts in human cancer cells.
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Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
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Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.
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Analysis of fusion gene expression in prostate tumors by using single-end reads.
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Genet Mol Res. 2013 Aug 12;12(3):2886-94.
Exome sequencing reveals new insights into the progression of abdominal aortic aneurysm.
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Eur Rev Med Pharmacol Sci. 2013 Sep;17(17):2401-9.
Next-generation sequencing of HIV-1 RNA genomes: determination of error rates and minimizing artificial recombination.
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Nat Genet. 2013 Sep 22. [Epub ahead of print]
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