The Journal of molecular diagnostics : JMD
Journal
Overview
publication venue for
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Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations..
27.
2025
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Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non-Small-Cell Lung Cancer..
27.
2025
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Detection of Gene Fusions and Rearrangements in Formalin-Fixed, Paraffin-Embedded Solid Tumor Specimens Using High-Throughput Chromosome Conformation Capture..
27.
2025
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Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection..
25.
2023
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Rapid and Automated Semiconductor-Based Next-Generation Sequencing for Simultaneous Detection of Somatic DNA and RNA Aberrations in Myeloid Neoplasms..
25.
2022
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Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions..
23.
2021
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Optimization of Sources of Circulating Cell-Free DNA Variability for Downstream Molecular Analysis..
23.
2021
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Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers..
23.
2021
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Clinical Experience of Cerebrospinal Fluid-Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling..
23.
2021
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Rapid EGFR Mutation Detection Using the Idylla Platform: Single-Institution Experience of 1200 Cases Analyzed by an In-House Developed Pipeline and Comparison with Concurrent Next-Generation Sequencing Results..
23.
2020
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Rapid Implementation of Severe Acute Respiratory Syndrome Coronavirus 2 Emergency Use Authorization RT-PCR Testing and Experience at an Academic Medical Institution..
23.
2020
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Performance of Severe Acute Respiratory Syndrome Coronavirus 2 Real-Time RT-PCR Tests on Oral Rinses and Saliva Samples..
23.
2020
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Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms..
22.
2020
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Application of Multiplex Bisulfite PCR-Ligase Detection Reaction-Real-Time Quantitative PCR Assay in Interrogating Bioinformatically Identified, Blood-Based Methylation Markers for Colorectal Cancer..
22.
2020
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Next-Generation Sequencing-Based Assessment of JAK2, PD-L1, and PD-L2 Copy Number Alterations at 9p24.1 in Breast Cancer: Potential Implications for Clinical Management..
21.
2018
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Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer..
20.
2018
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Norovirus Loads in Stool Specimens of Cancer Patients with Norovirus Gastroenteritis..
19.
2017
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Minimal Residual Disease Monitoring of Acute Myeloid Leukemia by Massively Multiplex Digital PCR in Patients with NPM1 Mutations..
19.
2017
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Identification of NTRK3 Fusions in Childhood Melanocytic Neoplasms..
19.
2017
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Next-Generation Assessment of Human Epidermal Growth Factor Receptor 2 (ERBB2) Amplification Status: Clinical Validation in the Context of a Hybrid Capture-Based, Comprehensive Solid Tumor Genomic Profiling Assay..
19.
2016
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Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing..
19.
2016
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The Clinical Implications of Inconsistently Methylated Results from Glioblastoma MGMT Testing by Replicate Methylation-Specific PCR..
18.
2016
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Clinical Application of Picodroplet Digital PCR Technology for Rapid Detection of EGFR T790M in Next-Generation Sequencing Libraries and DNA from Limited Tumor Samples..
18.
2016
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Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies..
18.
2016
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Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization..
18.
2015
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Aberrant Levels of miRNAs in Bone Marrow Microenvironment and Peripheral Blood of Myeloma Patients and Disease Progression..
17.
2015
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Minimal Residual Disease Detection by Droplet Digital PCR in Multiple Myeloma, Mantle Cell Lymphoma, and Follicular Lymphoma: A Comparison with Real-Time PCR..
17.
2015
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Comparing Platforms for Messenger RNA Expression Profiling of Archival Formalin-Fixed, Paraffin-Embedded Tissues..
17.
2015
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A clinical grade sequencing-based assay for CEBPA mutation testing: report of a large series of myeloid neoplasms..
17.
2014
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Prospective enterprise-level molecular genotyping of a cohort of cancer patients..
16.
2014
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Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data..
16.
2014
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A novel subtyping assay for detection of Clostridium difficile virulence genes..
16.
2014
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Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing..
16.
2013
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Detection of MPL mutations by a novel allele-specific PCR-based strategy..
15.
2013
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A multiplexed fragment analysis-based assay for detection of JAK2 exon 12 mutations..
15.
2013
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A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene..
14.
2012
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Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas..
13.
2011
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Copy number gains in 11q13 and 8q24 [corrected] are highly linked to prognosis in cutaneous malignant melanoma..
13.
2011
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Precision of pyrosequencing assay to measure LINE-1 methylation in colon cancer, normal colonic mucosa, and peripheral blood cells..
12.
2010
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A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing..
11.
2009
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KRAS mutations: an old oncogene becomes a new predictive biomarker..
10.
2008
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Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry..
10.
2008
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EGFR mutations in lung adenocarcinomas: clinical testing experience and relationship to EGFR gene copy number and immunohistochemical expression..
10.
2008
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DNA degradation test predicts success in whole-genome amplification from diverse clinical samples..
9.
2007
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Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample..
9.
2007
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Cyclin D1, a novel molecular marker of minimal residual disease, in metastatic neuroblastoma..
9.
2007
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Detection of mutant BRAF alleles in the plasma of patients with metastatic melanoma..
9.
2007
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Evaluation of enrichment techniques for mass spectrometry: identification of tyrosine phosphoproteins in cancer cells..
9.
2007
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Semiautomated multiplexed quantum dot-based in situ hybridization and spectral deconvolution..
9.
2007
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CpG island methylator phenotype-low (CIMP-low) in colorectal cancer: possible associations with male sex and KRAS mutations..
8.
2006
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Analytical characteristics of cleavable isotope-coded affinity tag-LC-tandem mass spectrometry for quantitative proteomic studies..
8.
2006
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Microarray analysis of thyroid nodule fine-needle aspirates accurately classifies benign and malignant lesions..
8.
2006
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Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis..
8.
2006
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Sensitive sequencing method for KRAS mutation detection by Pyrosequencing..
7.
2005
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High-resolution melting analysis for detection of internal tandem duplications..
6.
2004
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Utility of linearly amplified RNA for RT-PCR detection of chromosomal translocations: validation using the t(2;5)(p23;q35) NPM-ALK chromosomal translocation..
6.
2004
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Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice..
5.
2003
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Microarray analysis of B-cell lymphoma cell lines with the t(14;18)..
4.
2002
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Fluorescence PCR quantification of cyclin D1 expression..
4.
2002
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Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases..
4.
2002
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Spinal muscular atrophy genetic testing experience at an academic medical center..
4.
2002
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Heteroduplex formation in SMN gene dosage analysis..
3.
2001
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Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas..
2.
2000
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PCR analysis of the immunoglobulin heavy chain gene in polyclonal processes can yield pseudoclonal bands as an artifact of low B cell number..
2.
2000
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Authors' Reply..
20.
2018
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An intron-derived insertion/truncation mutation in the BCR-ABL kinase domain in chronic myeloid leukemia patients undergoing kinase inhibitor therapy..
10.
2008
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Homozygous transthyretin mutation in an African American Male..
9.
2007
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5'-(RACE) identification of rare ALK fusion partner in anaplastic large cell lymphoma..
5.
2003
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Informatics Powering Data to Shape the Future of Molecular Pathology..
27.
2025
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Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, Association of Cancer Care Centers, and College of American Pathologists.
2025
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Clinical Bioinformatician Body of Knowledge-Bioinformatics and Software Core: A Report of the Association for Molecular Pathology.
2025
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Recommendations for Tumor Mutational Burden Assay Validation and Reporting: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, and Society for Immunotherapy of Cancer.
2024
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Alignment of Fellowship Training with Practice Patterns for Molecular Pathologists: A Report of the Association for Molecular Pathology Training and Education Committee.
2022
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Containers in Bioinformatics: Applications, Practical Considerations, and Best Practices in Molecular Pathology.
2022
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A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee.
2021
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Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology.
2018
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
2017
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The role of MGMT testing in clinical practice: a report of the association for molecular pathology.
2013
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Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.
2013
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Gene dysregulations driven by somatic copy number aberrations-biological and clinical implications in colon tumors: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.
2010
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Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia: a report of the Association for Molecular Pathology.
2008
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The molecular pathology of primary immunodeficiencies.
2004
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Clinical categories of neuroblastoma are associated with different patterns of loss of heterozygosity on chromosome arm 1p.
2000
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