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Proc Natl Acad Sci U S A. 2014 May 21. [Epub ahead of print]
Data on whole-genome-sequencing is insufficient to rule out patient-to-patient transmission as a significant source of Staphylococcus aureus acquisition in an ICU.
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Clin Infect Dis. 2014 May 20. [Epub ahead of print]
Deep sequencing of HIV infected cells: insights into nascent transcription and host-directed therapy.
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J Virol. 2014 May 21. [Epub ahead of print]
Two novel mutations in the C-terminal region of centrosomal protein 290 (CEP290) result in classic Joubert syndrome.
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J Child Neurol. 2014 May 21. [Epub ahead of print]
Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
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Neurology. 2014 May 21. [Epub ahead of print]
Whole genome sequencing for high-resolution investigation of methicillin resistant Staphylococcus aureus epidemiology and genome plasticity.
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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
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Eur J Hum Genet. 2014 May 21. [Epub ahead of print]
Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
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Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing.
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Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
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Hum Mol Genet. 2014 May 20. [Epub ahead of print]
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
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Clin Immunol. 2014 May 17. [Epub ahead of print]
CLImAT: accurate detection of copy number alteration and loss of heterozygosity in impure and aneuploid tumor samples using whole-genome sequencing data.
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Bioinformatics. 2014 May 19. [Epub ahead of print]
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Am J Med Genet A. 2014 May 20. [Epub ahead of print]
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
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Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing.
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Proc Natl Acad Sci U S A. 2014 May 19. [Epub ahead of print]
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
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PLOS One. 2014 May 19;9(5):e97274.
HIV-1 Quasispecies delineation by tag linkage deep sequencing.
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