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Hum Mol Genet. 2014 Jan 29. [Epub ahead of print]
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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Genet Epidemiol. 2014 Jan 30. [Epub ahead of print]
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Leukemia. 2014 Jan 13. [Epub ahead of print]
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
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BMC Neurol. 2014 Jan 31;14(1):22.
Clinical insights from metagenomic analysis of sputum samples from patients with cystic fibrosis.
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J Clin Microbiol. 2014 Feb;52(2):425-37.
Patient-specific induced-pluripotent stem cells derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.
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Hum Mol Genet. 2014 Jan 29. [Epub ahead of print]
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
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Hum Mol Genet. 2014 Jan 29. [Epub ahead of print]
Comprehensive molecular characterization of urothelial bladder carcinoma.
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Nature. 2014 Jan 29. [Epub ahead of print]
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BMC Genet. 2014 Jan 29;15(1):13.
Prevalence and evolution of low frequency HIV drug resistance mutations detected by ultra deep sequencing in patients experiencing first line antiretroviral therapy failure.
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PLOS One. 2014 Jan 27;9(1):e86771.
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.
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Eur J Hum Genet. 2014 Jan 29. [Epub ahead of print]
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
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Genet Res (Camb). 2014 Jan 28:1-9.
High prevalence of GPRC5A germline mutations in BRCA1-mutant breast cancer patients.
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Whole-genome sequencing identifies genomic heterogeneity at a nucleotide and chromosomal level in bladder cancer.
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Proc Natl Acad Sci U S A. 2014 Jan 27. [Epub ahead of print]
CD74-NRG1 fusions in lung adenocarcinoma.
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Cancer Discov. 2014 Jan 27. [Epub ahead of print]
Sensitive deep sequencing-based HIV-1 genotyping assay to simultaneously determine susceptibility to protease, reverse transcriptase, integrase, and maturation inhibitors, as well as HIV-1 coreceptor tropism.
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Antimicrob Agents Chemother. 2014 Jan 27. [Epub ahead of print]
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
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Orphanet J Rare Dis. 2014 Jan 28;9(1):15.
Microbes in the neonatal intensive care unit resemble those found in the gut of premature infants.
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Microbiome. 2014 Jan 28;2(1):1.
Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.
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Mol Autism. 2014 Jan 27;5(1):5.
Human liver cell trafficking mutants: characterization and whole exome sequencing.
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PLOS One. 2014 Jan 23;9(1):e87043.
Somatic mutaome profile in human cancer tissues.
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Genomics Inform. 2013 Dec;11(4):239-44.
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes.
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Nat Genet. 2014 Jan 26. [Epub ahead of print]
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
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Hum Mol Genet. 2014 Jan 25. [Epub ahead of print]
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Biochim Biophys Acta. 2014 Jan 23. [Epub ahead of print]
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Genomics. 2014 Jan 21. [Epub ahead of print]
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Am J Hum Genet. 2014 Jan 21. [Epub ahead of print]
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
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Mol Genet Metab. 2013 Dec 25. [Epub ahead of print]
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome.
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BMC Genomics. 2014 Jan 24;15(1):63.
Using single cell sequencing data to model the evolutionary history of a tumor.
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BMC Bioinformatics. 2014 Jan 24;15(1):27.