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An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis. Coin LJ, Cao D, Ren J, Zuo X, et al. Bioinformatics. 2012 Sep 15;28(18):i370-i374.
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Comprehensive genomic characterization of squamous cell lung cancers. The Cancer Genome Atlas Research Network Nature. 2012 Sep 9. [Epub ahead of print]
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Loss of SUFU function in familial multiple meningioma. Aavikko M, Li SP, Saarinen S, Alhopuro P, et al. Am J Hum Genet. 2012 Sep 7;91(3):520-6.
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. Bick AG, Flannick J, Ito K, Cheng S, et al. Am J Hum Genet. 2012 Sep 7;91(3):513-9.
Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. Xu X, Zhang L, Tong P, Xun G, et al. Clin Genet. 2012 Sep 7. [Epub ahead of print]
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Exploring bacterial diversity in hospital environments by GS-FLX Titanium pyrosequencing. Poza M, Gayoso C, Gómez MJ, Rumbo-Feal S, et al. PLoS One. 2012;7(8):e44105.
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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. Licastro D, Mutarelli M, Peluso I, Neveling K, et al. PLoS One. 2012;7(8):e43799.
A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina. Charlier C, Agerholm JS, Coppieters W, Karlskov-Mortensen P, et al. PLoS One. 2012;7(8):e43085.
Identification of retinol binding protein 1 promoter hypermethylation in isocitrate dehydrogenase 1 and 2 mutant gliomas. Chou AP, Chowdhury R, Li S, Chen W, et al. J Natl Cancer Inst. 2012 Sep 3. [Epub ahead of print]
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Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, et al. Hum Mutat. 2012 Sep 4. [Epub ahead of print]
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High-throughput sequencing reveals the incomplete, short-term, recovery of the infant gut microbiota following parenteral antibiotic treatment with ampicillin and gentamycin. Fouhy F, Guinane CM, Hussey S, Wall R, et al. Antimicrob Agents Chemother. 2012 Sep 4. [Epub ahead of print]
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