Search Results - "Hesse, Andrew"
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Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel
Published in Epilepsy research (01-08-2018)“…•This study reviews genotype and phenotype data on 305 patients spanning the epileptic spectrum, identifying a number of novel genetic variants.•Forty-one…”
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Evaluating gene fusions in solid tumors – Clinical experience using an RNA based 53 gene next-generation sequencing panel
Published in Cancer genetics (01-04-2019)“…•This study reviews the positive yield rate for fusions in solid tumors across 183 cases.•Seven actionable fusions were identified in our cohort, a positive…”
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3
Genomic Profiling of Two Histologically Distinct Rare Urothelial Cancers in a Clinical Setting to Identify Potential Therapeutic Options for Treatment and Management of Disease
Published in Case reports in oncology (27-03-2018)“…Molecular profiling of urothelial cancers for therapeutic and prognostic potential has been very limited due to the absence of cancer-specific targeted…”
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4
Microwave Synthesis of Benchmark Organo-Iron Complexes
Published in Organometallics (14-12-2009)“…Microwave-assisted reaction techniques have been applied to the formation of a variety of organo-iron species. The species synthesized include ferrocene and…”
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Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor Assay
Published in Biomarker insights (01-01-2019)“…The standard of care in oncology has been genomic profiling of tumor tissue biopsies for the treatment and management of disease, which can prove to be quite…”
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Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells
Published in Human mutation (01-11-2019)“…Lynch syndrome (LS) predisposes patients to cancer and is caused by germline mutations in the DNA mismatch repair (MMR) genes. Identifying the deleterious…”
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Therapeutic yield of an NGS pan-cancer panel utilizing joint AMP/ASCO/CAP classification guidelines
Published in Journal of clinical oncology (20-05-2018)“…Abstract only…”
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PATH-46. DETECTING MISDIAGNOSED ATYPICAL TERATOID/RHABDOID TUMOR (ATRT) BY DNA METHYLATION-BASED TUMOR CLASSIFICATION
Published in Neuro-oncology (Charlottesville, Va.) (11-11-2019)“…Abstract Brain tumor diagnostics is achieved by combining morphology assessment and biomarker identification. However, the inter-observer variability of the…”
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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 (Berlin, Germany) (01-02-2022)“…Whole transcriptome sequencing (RNA-Seq) has gained prominence for the detection of fusions in solid tumors. Here, we describe the development and validation…”
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Abstract 1034: Genotyping of patient-derived xenograft tumors using short tandem repeats: Challenges and observations in ensuring concordance across passages for effective preclinical studies
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract Patient derived xenograft (PDX) tumor models represent the closest step to in-human trials for cancer drug research and are therefore an invaluable…”
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Utilizing data from patient-derived xenograft mouse models of human tumors to inform clinical decision making in Molecular Tumor Boards (MTB) deliberations
Published in Journal of clinical oncology (20-05-2019)“…Abstract only e14660 Background: Molecular Tumor Boards (MTB) are often the critical decision-making step in identifying genome-guided treatments for patients…”
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Abstract 3428: Development and validation of the plasma monitor test system
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract Introduction: Non-invasive monitoring of variants in a cancer patient for minimal residual disease, recurrence and/or resistance has tremendous…”
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17. Molecular profiling of gynecologic cancers – clinical experience evaluating ∼80 cases for treatment and management of disease
Published in Cancer genetics (01-04-2019)Get full text
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Molecular profiling of CNS tumors for the treatment and management of disease
Published in Journal of clinical neuroscience (01-01-2020)“…•This retrospective study evaluates the molecular profiles in 48 glioblastoma in comparison to TCGA and MSK data sets.•Hundred and thirty-one clinically…”
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Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel
Published in Journal of genetics (01-09-2017)“…Epilepsy is one of the most common neurological disorders with about 500 genes thought to be involved across the phenotypic spectrum (Busch et al . 2014 ; Ran…”
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Scordatura in the Accompanied Violoncello Repertoire of Jacob Klein, Peter Ritter, and Eric Malmquist
Published 01-01-2018“…Ever since a ‘standard’ tuning existed for the violoncello, certain composers have chosen to alter this tuning, a technique known as scordatura, in order to…”
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Dissertation -
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Molecular profiling of gynecologic cancers for treatment and management of disease – demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants
Published in Cancer genetics (01-04-2020)“…•This retrospective study evaluates the molecular profiles in 95 gynecologic cancers, in comparison to TCGA and MSK data sets.•Hundred and forty six unique…”
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Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitor TM Assay
Published in Biomarker insights (2019)“…The standard of care in oncology has been genomic profiling of tumor tissue biopsies for the treatment and management of disease, which can prove to be quite…”
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Journal Article -
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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 (01-02-2020)“…Objective The study aimed to retrospectively evaluate the positive yield rate of a custom 212-gene next-generation sequencing (NGS) panel, the JAX ActionSeq™…”
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Technical and Regulatory Considerations for Taking Liquid Biopsy to the Clinic: Validation of the JAX PlasmaMonitorTM Assay
Published in Biomarker insights (01-01-2019)“…The standard of care in oncology has been genomic profiling of tumor tissue biopsies for the treatment and management of disease, which can prove to be quite…”
Get full text
Journal Article