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Hum Mol Genet. 2014 Oct 9. [Epub ahead of print]
Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.
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Clin Chim Acta. 2014 Oct 7. [Epub ahead of print]
Next generation sequencing of pancreatic cyst fluid microRNAs from low grade- benign and high grade- invasive lesions.
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Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
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Mol Genet Metab. 2014 Sep 28. [Epub ahead of print]
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J Microbiol Immunol Infect. 2014 Oct 8. [Epub ahead of print]
Targeted sequencing using a 47 gene multiple myeloma mutation panel (M3 P) in -17p high risk disease.
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Br J Haematol. 2014 Oct 10. [Epub ahead of print]
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PLOS Genet. 2014 Oct 9;10(10):e1004704.
Massively parallel sequencing identifies recurrent mutations in TP53 in thymic carcinoma associated with poor prognosis.
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J Thorac Oncol. 2014 Oct 8. [Epub ahead of print]
Identifying differential expression genes and single nucleotide variations using RNA-seq in metastatic melanoma.
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Genet Mol Res. 2014 Oct 7;13(4):8153-8162.
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J Law Med Ethics. 2014 Sep;42 Suppl 1:51-66.
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J Law Med Ethics. 2014 Sep;42 Suppl 1:22-41.
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J Law Med Ethics. 2014 Sep;42 Suppl 1:9-21.
Clinical integration of next generation sequencing: a policy analysis.
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J Law Med Ethics. 2014 Sep;42 Suppl 1:5-8.
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Bioinformatics. 2014 Oct 8. [Epub ahead of print]
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Bioinformatics. 2014 Oct 8. [Epub ahead of print]
Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences.
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Hum Mol Genet. 2014 Oct 8. [Epub ahead of print]
Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
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N Engl J Med. 2014 Oct 9;371(15):1426-1433.
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Identification of recurrent FGFR3-TACC3 fusion oncogenes from lung adenocarcinoma.
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An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
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Neurogenetics. 2014 Oct 8. [Epub ahead of print]
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Eur J Hum Genet. 2014 Oct 8. [Epub ahead of print]
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Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.
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PLOS One. 2014 Oct 7;9(10):e109178.
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Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing.
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Integrated analysis of whole-genome paired-end and mate-pair sequencing data for identifying genomic structural variations in multiple myeloma.
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Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
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Tissue Antigens. 2014 Oct 7. [Epub ahead of print]
Comparative DNA methylome analysis of endometrial carcinoma reveals complex and distinct deregulation of cancer promoters and enhancers.
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BMC Genomics. 2014 Oct 6;15(1):868.
Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients.
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Leukemia. 2014 Aug;28(8):1586-95.
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BMC Med. 2014 Aug 12;12(1):140.
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PLOS One. 2014 Oct 6;9(10):e108411.
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BMC Genomics. 2014 Oct 6;15(1):864.