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Cancer. 2013 Dec 10. [Epub ahead of print]
Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1.
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Nat Commun. 2013 Dec 10;4:2810.
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Harismendy O, Schwab RB, Alakus H, Yost SE, et al.
Breast Cancer Res. 2013 Dec 10;15(6):R115.
Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.
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N Engl J Med. 2013 Dec 10. [Epub ahead of print]
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N Engl J Med. 2013 Dec 10. [Epub ahead of print]
An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability.
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PLoS One. 2013 Dec 6;8(12):e82810.
Whole genome sequencing reveals complex evolution patterns of multidrug-resistant Mycobacterium tuberculosis Beijing strains in patients.
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PLoS One. 2013 Dec 6;8(12):e82551.
Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients.
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Proc Natl Acad Sci U S A. 2013 Dec 9. [Epub ahead of print]
Surveillance of the tumor mutanome by T cells during progression from primary to recurrent ovarian cancer.
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Clin Cancer Res. 2013 Dec 9. [Epub ahead of print]
DNA methylation analysis of CD4+ T cells in patients with psoriasis.
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Arch Dermatol Res. 2013 Dec 10. [Epub ahead of print]
Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients.
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J Clin Oncol. 2013 Dec 9. [Epub ahead of print]
Exome sequencing and diffusion tensor imaging in developmental disabilities.
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Pediatr Res. 2013 Dec 6. [Epub ahead of print]
Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.
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Mol Vis. 2013 Nov 24;19:2393-2406.
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
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J Med Genet. 2013 Dec 6. [Epub ahead of print]
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
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Hum Mol Genet. 2013 Dec 6. [Epub ahead of print]
A missense mutation in ITGB6 causes pitted hypomineralised amelogenesis imperfecta.
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Hum Mol Genet. 2013 Dec 6. [Epub ahead of print]
Novel LEPR mutations in obese Pakistani children identified by PCR-based enrichment and next generation sequencing.
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Obesity (Silver Spring) . 2013 Nov 25. [Epub ahead of print]
An integrative analysis reveals functional targets of GATA6 transcriptional regulation in gastric cancer.
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Oncogene. 2013 Dec 9. [Epub ahead of print]
Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas.
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J Natl Cancer Inst. 2013 Dec 7. [Epub ahead of print]
Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation.
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Blood Cancer J. 2013 Dec 6;3:e168.
Human gut microbiome and risk of colorectal cancer.
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J Natl Cancer Inst. 2013 Dec 6. [Epub ahead of print]
Titin mutation in familial restrictive cardiomyopathy.
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Int J Cardiol. 2013 Nov 25. [Epub ahead of print]
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.
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Epilepsy Res. 2013 Nov 18. [Epub ahead of print]
Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment.
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BMC Genomics. 2013 Dec 5;14(1):856.