Exome sequencing reveals CCDC111 mutation associated with high myopia.
Zhao F, Wu J, Xue A, Su Y, et al.
Hum Genet. 2013 Apr 12. [Epub ahead of print]
Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-seq.
van Blitterswijk M, Wang ET, Friedman BA, Keagle PJ, et al.
PLoS One. 2013;8(4):e60788.
Whole genome and transcriptome sequencing of a b3 thymoma.
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PLoS One. 2013;8(4):e60572.
Relapsed classic E-cadherin (CDH1) mutated invasive lobular breast cancer demonstrates a high frequency of HER2 (ERBB2) gene mutations.
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Clin Cancer Res. 2013 Apr 10. [Epub ahead of print]
NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.
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Clin Genet. 2013 Apr 10. [Epub ahead of print]
Few single nucleotide variations in exomes of human cord blood induced pluripotent stem cells.
Su RJ, Yang Y, Neises A, Payne KJ, et al.
PLoS One. 2013;8(4):e59908.
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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Eur J Hum Genet. 2013 Apr 10. [Epub ahead of print]
A culture-independent sequence-based metagenomics approach to the investigation of an outbreak of Shiga-toxigenic Escherichia coli O104:H4.
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JAMA. 013 Apr 10;309(14):1502-10.
Majority of differentially expressed genes are down-regulated during malignant transformation in a four-stage model.
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Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]
Developmental timing of mutations revealed by whole-genome sequencing of twins with acute lymphoblastic leukemia.
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Proc Natl Acad Sci U S A. 2013 Apr 8. [Epub ahead of print]
Epigenetic deregulation of the anaplastic lymphoma kinase gene modulates mesenchymal characteristics of oral squamous cell carcinomas.
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Carcinogenesis. 2013 Apr 8. [Epub ahead of print]
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Genome Res. 2013 Apr 8. [Epub ahead of print]
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
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Hum Mutat. 2013 Apr 8. [Epub ahead of print]
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, et al.
Hum Genet. 013 Apr 9. [Epub ahead of print]
The landscape of alternative splicing in buccal mucosa squamous cell carcinoma.
Shah TM, Patel AK, Bhatt VD, Tripathi AK, et al.
Oral Oncol. 2013 Apr 5. [Epub ahead of print]
A carrier-assisted ChIP-seq method for estrogen receptor-chromatin interactions from breast cancer core needle biopsy samples.
Zwart W, Koornstra R, Wesseling J, Rutgers E, et al.
BMC Genomics. 013 Apr 8;14(1):232.