Found: 22
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Evaluating direct amplification from viral transport medium for SARS-CoV-2 detection, strain typing, and angiotensin-converting enzyme genotyping and expression assays.
- Published in:
- Laboratory Medicine, 2024, v. 55, n. 3, p. 267, doi. 10.1093/labmed/lmad075
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- Publication type:
- Article
A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case of germline mosaicism.
- Published in:
- Journal of Genetics, 2023, v. 102, n. 1, p. 1, doi. 10.1007/s12041-022-01412-8
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- Publication type:
- Article
The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2416, doi. 10.1002/ajmg.a.37797
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- Publication type:
- Article
RNA sequencing identifies multiple fusion transcripts, differentially expressed genes, and reduced expression of immune function genes in BRAF (V600E) mutant vs BRAF wild-type papillary thyroid carcinoma.
- Published in:
- 2014
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- Publication type:
- journal article
Novel CTNND2‐TERT fusion in a spindle cell liposarcoma.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 9, p. 544, doi. 10.1002/gcc.22856
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- Publication type:
- Article
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.
- Published in:
- Biomarker Insights, 2023, v. 18, p. 1, doi. 10.1177/11772719231178618
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- Publication type:
- Article
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants.
- Published in:
- Biomarker Insights, 2023, p. 1, doi. 10.1177/11772719231178618
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- Publication type:
- Article
Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor TM Assay.
- Published in:
- Biomarker Insights, 2019, v. 14, p. 1, doi. 10.1177/1177271919826545
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- Publication type:
- Article
Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor TM Assay.
- Published in:
- Biomarker Insights, 2019, v. 14, p. N.PAG, doi. 10.1177/1177271919826545
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- Publication type:
- Article
Implementation of an Active Screening Program for SARS-CoV2 - Experience at an Academic Medical Center.
- Published in:
- Wisconsin Medical Journal, 2022, v. 121, n. 3, p. 235
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- Publication type:
- Article
Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions.
- Published in:
- BMC Infectious Diseases, 2024, v. 24, p. 1, doi. 10.1186/s12879-024-09321-0
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- Publication type:
- Article
Analysis of Circulating MicroRNA: Preanalytical and Analytical Challenges.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 6, p. 833, doi. 10.1373/clinchem.2010.157198
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- Publication type:
- Article
Evaluation of the PAX8/PPARG Translocation in Follicular Thyroid Cancer with a 4-Color Reverse-Transcription PCR Assay and Automated High-Resolution Fragment Analysis.
- Published in:
- Clinical Chemistry, 2010, v. 56, n. 3, p. 391, doi. 10.1373/clinchem.2009.134015
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- Publication type:
- Article
Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 1, p. 139, doi. 10.1111/cge.14314
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- Publication type:
- Article
Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq™ Assay.
- Published in:
- Molecular Diagnosis & Therapy, 2020, v. 24, n. 1, p. 103, doi. 10.1007/s40291-019-00435-9
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- Publication type:
- Article
Endoplasmic Reticulum Stress Response Is Activated in Islets of Wild-Type and S20G Mutant Human IAPP Knock-in Mice.
- Published in:
- Diabetes, 2007, v. 56, p. A411
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- Publication type:
- Article
Methodology, Criteria, and Characterization of Patient-Matched Thyroid Cell Lines and Patient-Derived Tumor Xenografts.
- Published in:
- 2018
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- Publication type:
- journal article
Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2044, doi. 10.1002/humu.23848
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- Publication type:
- Article
RNA-Seq for the detection of gene fusions in solid tumors: development and validation of the JAX FusionSeq™ 2.0 assay.
- Published in:
- Journal of Molecular Medicine, 2022, v. 100, n. 2, p. 323, doi. 10.1007/s00109-021-02149-0
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- Publication type:
- Article
Editorial: Emerging talents in genomic assay technology.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1259011
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- Publication type:
- Article
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 946, doi. 10.3390/genes15070946
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- Publication type:
- Article
Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2023, v. 115, n. 8, p. 994, doi. 10.1093/jnci/djad095
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- Publication type:
- Article