Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?
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Circ Res. 2014 Jan 17;114(2):e2-5.
Comprehensive Genomic Analysis of Rhabdomyosarcoma Reveals a Landscape of Alterations Affecting a Common Genetic Axis in Fusion-Positive and Fusion-Negative Tumors.
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Cancer Discov. 2014 Jan 16. [Epub ahead of print]
Drawing a high-resolution functional map of adeno-associated virus capsid by massively parallel sequencing.
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Nat Commun. 2014 Jan 17;5:3075.
Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.
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Cancer Cell. 2014 Jan 13;25(1):91-101.
Healthcare-associated outbreak of meticillin-resistant Staphylococcus aureus bacteraemia: role of a cryptic variant of an epidemic clone.
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J Hosp Infect. 2013 Dec 21. pii: S0195-6701(13)00403-9.
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
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J Med Genet. 2014 Jan 15. [Epub ahead of print]
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J Med Genet. 2014 Jan 15. [Epub ahead of print]
Brief Report: Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome.
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Arthritis Rheumatol. 2014 Jan;66(1):197-202.
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
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J Hum Genet. 2014 Jan 16. [Epub ahead of print]
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Nat Commun. 2014 Jan 16;5:2997.
Deep RNA Sequencing Reveals Dynamic Regulation of Myocardial Noncoding RNA in Failing Human Heart and Remodeling with Mechanical Circulatory Support.
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Circulation. 2014 Jan 15. [Epub ahead of print]
Detection of bacterial DNA in lymph nodes of Crohn's disease patients using high throughput sequencing.
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Next-generation sequencing of disseminated tumor cells.
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Front Oncol. 2013 Dec 31;3:320.
Molecular Profiling of HNSCC Cells and Tumors Reveals a Rational Approach to Preclinical Model Selection.
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Mol Cancer Res. 2014 Jan 14. [Epub ahead of print]
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Hepatology. 2014 Jan 15. [Epub ahead of print]
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
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Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
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Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]
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Eur J Hum Genet. 2014 Jan 15. [Epub ahead of print]
A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
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J Med Genet. 2014 Jan 13. [Epub ahead of print]
Stabilization of Disease after Targeted Therapy in a Thymic Carcinoma with KIT Mutation Detected by Clinical Next-Generation Sequencing.
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J Thorac Oncol. 2014 Feb;9(2):e12-6.
Simultaneous Characterization of Somatic Events and HPV-18 Integration in a Metastatic Cervical Carcinoma Patient Using DNA and RNA Sequencing.
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Int J Gynecol Cancer. 2014 Jan 9. [Epub ahead of print]
Comprehensive Genomic Profiling of Relapsed and Metastatic Adenoid Cystic Carcinomas by Next-generation Sequencing Reveals Potential New Routes to Targeted Therapies.
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Am J Surg Pathol. 2014 Feb;38(2):235-8.
Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease.
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Gastroenterology. 2014 Jan 10. [Epub ahead of print]
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
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Nat Genet. 2014 Jan 12. [Epub ahead of print]
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Nat Genet. 2014 Jan 12. [Epub ahead of print]
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
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Nat Genet. 2014 Jan 12. [Epub ahead of print]
Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T-cells and granulocytes.
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Leukemia. 2014 Jan 13. [Epub ahead of print]
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam.
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Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations.
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BMC Cancer. 2014 Jan 10;14(1):13.
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
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Mol Autism. 2014 Jan 10;5(1):1.