Next generation whole genome sequencing identifies the direction of norovirus transmission in linked patients.
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Clin Infect Dis. 2013 May 3. [Epub ahead of print]
Mining exomic sequencing data to identify mutated antigens recognized by adoptively transferred tumor-reactive T cells.
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Nat Med. 2013 May 5. [Epub ahead of print]
Population genomics of post-vaccine changes in pneumococcal epidemiology.
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Nat Genet. 2013 May 5. [Epub ahead of print]
Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits.
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Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
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Am J Hum Genet. 2013 May 2;92(5):820-6.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
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Am J Hum Genet. 2013 May 2;92(5):774-80.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
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Am J Hum Genet. 2013 May 2;92(5):725-43.
Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs.
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BMC Genomics. 2013 May 4;14(1):302.
Serum microRNAs profile from genome-wide screen serves as a fingerprint for diagnosis of acute myocardial infarction and angina pectoris.
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BMC Med Genomics. 2013 May 4;6(1):16.
Somatic mutations in H-RAS in sporadic pheochromocytoma and paraganglioma Identified by exome sequencing.
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J Clin Endocrinol Metab. 2013 May 2. [Epub ahead of print]
Identification of novel mutations of TP53, ALK and RET gene in metastatic thymic squamous cell carcinoma and its therapeutic implication.
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Lung Cancer. 2013 Apr 29. [Epub ahead of print]
Molecular characterization of the fecal microbiota in patients with nonalcoholic steatohepatitis — a longitudinal study.
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PLoS One. 2013 Apr 25;8(4):e62885.
Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.
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Cancer Epidemiol Biomarkers Prev. 2013 May 1. [Epub ahead of print]
Somatic alterations contributing to metastasis of a castration resistant prostate cancer.
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Hum Mutat. 2013 May 1. [Epub ahead of print]
Integrated genomic characterization of endometrial carcinoma.
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Nature. 2013 May 2;497(7447):67-73.
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
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J Med Genet. 2013 May 1. [Epub ahead of print]
RNA-seq analysis of prostate cancer in the Chinese population identifies recurrent gene fusions, cancer-associated long noncoding RNAs and aberrant alternative splicings.
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Cell Res. 2013 May;23(5):732.
Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma.
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Obstet Gynecol. 2013 May;121(5):1057-1062.
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
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N Engl J Med. 2013 May 1. [Epub ahead of print]
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
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Orphanet J Rare Dis. 2013 May 1;8(1):66.
Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma.
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Cancer Med. 2013 Apr;2(2):208-15.
A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy.
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Invest Ophthalmol Vis Sci. 2013 Apr 30. [Epub ahead of print]
Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1.
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Proc Natl Acad Sci U S A. 2013 Apr 30. [Epub ahead of print]
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
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Eur J Hum Genet. 2013 May 1. [Epub ahead of print]
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
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Genomics. 2013 Apr 27. pii: S0888-7543(13)00090-6. [Epub ahead of print]
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Genet Test Mol Biomarkers. 2013 Apr 30. [Epub ahead of print]
CMS: a web-based system for visualization and analysis of genome-wide methylation data of human cancers.
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PLoS One. 2013 Apr 22;8(4):e60980.
Next-generation sequencing reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer.
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RNA sequencing identifies fusion of the EWSR1 and YY1 genes in mesothelioma with t(14;22)(q32;q12).
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Gallbladder carcinoma: high rate of mitochondrial D-loop mutations.
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Diagn Mol Pathol. 2013 Apr 25. [Epub ahead of print]
Mitochondrial genome variations in advanced stage breast cancer: a case-control study.
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Mitochondrion. 2013 Apr 26. [Epub ahead of print]
EMu: probabilistic inference of mutational processes and their localization in the cancer genome.
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Genome Biol. 2013 Apr 29;14(4):R39.