Activating mutations in the NT5C2 nucleotidase gene drive chemotherapy resistance in relapsed ALL.
Tzoneva G, Perez-Garcia A, Carpenter Z, Khiabanian H, et al.
Nat Med. 2013 Feb 3. [Epub ahead of print]
Relapse-specific mutations in NT5C2 in childhood acute lymphoblastic leukemia.
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Nat Genet. 2013 Feb 3. [Epub ahead of print]
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
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Nat Genet. 2013 Feb 3. [Epub ahead of print]
Deep sequencing of small RNA transcriptome reveals novel non-coding RNAs in hepatocellular carcinoma.
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J Hepatol. 2013 Jan 29. [Epub ahead of print]
Discovery of novel non-synonymous SNP variants in 988 candidate genes from 6 centenarians by target capture and next-generation sequencing.
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Mech Ageing Dev. 2013 Jan 31. [Epub ahead of print]
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
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Mol Genet Metab. 2012 Dec 31. [Epub ahead of print]
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
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Am J Hum Genet. 2013 Jan 29. [Epub ahead of print]
Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis.
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Ophthalmology. 2013 Jan 30. [Epub ahead of print]
Bacterial diversity in two neonatal intensive care units (NICUs).
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PLoS One. 2013;8(1):e54703.
Characterization of the vaginal micro- and mycobiome in asymptomatic reproductive-age Estonian women.
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PLoS One. 2013;8(1):e54379.
Whole-genome DNA methylation in skin lesions from patients with psoriasis vulgaris.
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J Autoimmun. 2013 Jan 28. [Epub ahead of print]
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
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Brain. 2013 Jan;136(Pt 1):282-93.
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.
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J Hum Genet. 2013 Jan 31. [Epub ahead of print]
Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2.
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J Hum Genet. 2013 Jan 31. [Epub ahead of print]
Exome sequencing identifies SLC24A5 as a candidate gene for non-syndromic oculocutaneous albinism.
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J Invest Dermatol. 2013 Jan 30. [Epub ahead of print]
Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy.
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Clin Chem. 2013 Jan 30. [Epub ahead of print]
Direct sequencing and RipSeq interpretation as a tool for identification of polymicrobial infections.
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J Clin Microbiol. 2013 Jan 30. [Epub ahead of print]
Sequencing-based genotyping of mixed human papillomavirus infections using RipSeq software.
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J Clin Microbiol. 2013 Jan 30. [Epub ahead of print]
Gut microbiomes of Malawian twin pairs discordant for Kwashiorkor.
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Science. 2013 Jan 30. [Epub ahead of print]
Characterizing the emergence and persistence of drug resistant mutations in HIV-1 subtype C infections using 454 ultra deep pyrosequencing.
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BMC Infect Dis. 2013 Jan 30;13(1):52.
Comparison of targeted next-generation sequencing (NGS) and real-time PCR in the detection of EGFR, KRAS, and BRAF mutations on formalin-fixed, paraffin-embedded tumor material of non-small cell lung carcinoma-superiority of NGS.
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Genes Chromosomes Cancer. 2013 Jan 30. [Epub ahead of print]
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma.
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Proc Natl Acad Sci U S A. 2013 Jan 28. [Epub ahead of print]
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
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Proc Natl Acad Sci U S A. 2013 Jan 28. [Epub ahead of print]
Rapid detection of aneuploidies on a benchtop sequencing platform.
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Prenat Diagn. 2013 Jan 28:1-6.
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
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Orphanet J Rare Dis. 2013 Jan 28;8(1):16.