Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.
Raykova D1, Klar J1, Azhar A2, Khan TN2, Malik NA2, et al.
PLoS One. 2014 Apr 8;9(4):e93607.
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Mol Biol Evol. 2014 Apr 8. [Epub ahead of print]
Global transcriptome analysis of formalin-fixed prostate cancer specimens identifies biomarkers of disease recurrence.
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Cancer Res. 2014 Apr 8. [Epub ahead of print]
Universal genetic screening uncoversa novel presentation of an SDHAF2 mutation.
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J Clin Endocrinol Metab. 2014 Apr 8. [Epub ahead of print]
Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.
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J Lipid Res. 2014 Apr 7. [Epub ahead of print]
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Proc Natl Acad Sci U S A. 2014 Apr 7. [Epub ahead of print]
Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene.
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Neuropediatrics. 2014 Apr 7. [Epub ahead of print]
Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease.
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PLoS One. 2014 Apr 7;9(4):e92661.
A Targeted Next-Generation Sequencing Assay Detects a High Frequency of Therapeutically Targetable Alterations in Primary and Metastatic Breast Cancers: Implications for Clinical Practice.
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Oncologist. 2014 Apr 7. [Epub ahead of print]
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Nat Commun. 2014 Apr 8;5:3630.
RNA-sequencing analysis reveals new alterations in cardiomyocyte cytoskeletal genes in patients with heart failure.
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Lab Invest. 2014 Apr 7. [Epub ahead of print]
Whole-genome analysis of a patient with early-stage small-cell lung cancer.
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Pharmacogenomics J. 2014 Apr 8. [Epub ahead of print]
VCGDB: a dynamic genome database of the Chinese population.
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BMC Genomics. 2014 Apr 5;15(1):265.
ARMC5 Mutations are a Frequent Cause of Primary Macronodular Adrenal Hyperplasia.
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J Clin Endocrinol Metab 2014 Apr 7:jc20134237. [Epub ahead of print]
Processed pseudogenes acquired somatically during cancer development.
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Nat Commun. 2014 Apr 9;5:3644.
Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing.
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PLoS One. 2014 Apr 11;9(4):e94554.
Fusion Transcript Discovery in Formalin-Fixed Paraffin-Embedded Human Breast Cancer Tissues Reveals a Link to Tumor Progression.
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PLoS One. 2014 Apr 11;9(4):e94202.
Whole-exome sequencing in familial atrial fibrillation.
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Eur Heart J. 2014 Apr 11. [Epub ahead of print]
Druggable Oncogene Fusions in Invasive Mucinous Lung Adenocarcinoma.
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Clin Cancer Res. 2014 Apr 11. [Epub ahead of print]
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
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Recommendations for Analyzing and Reporting TP53 Gene Variants in the High Throughput Sequencing Era.
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Hum Mutat. 2014 Apr 12. [Epub ahead of print]
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Breast Cancer Res Treat. 2014 Apr 12. [Epub ahead of print]
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.
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Hum Mol Genet. 2014 Apr 12. [Epub ahead of print]
Pyrosequencing for rapid detection of Tuberculosis resistance in clinical isolates and Sputum samples from re-treatment Pulmonary Tuberculosis patients.
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BMC Infect Dis. 2014 Apr 13;14(1):200.
Defining the Genomic Landscape of Head and Neck Cancers Through Next-Generation Sequencing.
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Oral Dis. 2014 Apr 12. [Epub ahead of print]
Drug-Induced Long QT Syndrome and Exome Sequencing: Chinese Shadows Link Past and Future.
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J Am Coll Cardiol. 2014 Apr 15;63(14):1438-40.
Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome.
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J Am Coll Cardiol. 2014 Apr 15;63(14):1430-7.
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 Apr 15;23(8):2232-3.
Genomic tools in acute myeloid leukemia: From the bench to the bedside.
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Cancer. 2014 Apr 15;120(8):1134-44.
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.
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Hum Mol Genet. 2014 Apr 15;23(8):1957-63.