The Journal of molecular diagnostics : JMD

publication venue for

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
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
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
Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. 2011
An intron-derived insertion/truncation mutation in the BCR-ABL kinase domain in chronic myeloid leukemia patients undergoing kinase inhibitor therapy. 2008
Homozygous transthyretin mutation in an African American Male. 2007
Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data.. 24. 2022
Multiplex SuperSelective PCR Assays for the Detection and Quantitation of Rare Somatic Mutations in Liquid Biopsies.. 24. 2021
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions.. 23. 2021
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers.. 23. 2021
Clinical Experience of Cerebrospinal Fluid-Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling.. 23. 2021
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
A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled by Clinical Genomic Sequencing.. 23. 2020
Rapid Implementation of Severe Acute Respiratory Syndrome Coronavirus 2 Emergency Use Authorization RT-PCR Testing and Experience at an Academic Medical Institution.. 23. 2020
Performance of Severe Acute Respiratory Syndrome Coronavirus 2 Real-Time RT-PCR Tests on Oral Rinses and Saliva Samples.. 23. 2020
Routine Evaluation of Minimal Residual Disease in Myeloma Using Next-Generation Sequencing Clonality Testing: Feasibility, Challenges, and Direct Comparison with High-Sensitivity Flow Cytometry.. 23. 2020
Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms.. 22. 2020
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
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
Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer.. 20. 2018
Analytical Validation of a Next-Generation Sequencing Assay to Monitor Immune Responses in Solid Tumors.. 20. 2017
Norovirus Loads in Stool Specimens of Cancer Patients with Norovirus Gastroenteritis.. 19. 2017
Minimal Residual Disease Monitoring of Acute Myeloid Leukemia by Massively Multiplex Digital PCR in Patients with NPM1 Mutations.. 19. 2017
Identification of NTRK3 Fusions in Childhood Melanocytic Neoplasms.. 19. 2017
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
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.. 19. 2016
The Clinical Implications of Inconsistently Methylated Results from Glioblastoma MGMT Testing by Replicate Methylation-Specific PCR.. 18. 2016
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
Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies.. 18. 2016
Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization.. 18. 2015
Aberrant Levels of miRNAs in Bone Marrow Microenvironment and Peripheral Blood of Myeloma Patients and Disease Progression.. 17. 2015
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
Comparing Platforms for Messenger RNA Expression Profiling of Archival Formalin-Fixed, Paraffin-Embedded Tissues.. 17. 2015
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.. 17. 2015
Molecular classification of MYC-driven B-cell lymphomas by targeted gene expression profiling of fixed biopsy specimens.. 17. 2014
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.. 16. 2014
Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data.. 16. 2014
A novel subtyping assay for detection of Clostridium difficile virulence genes.. 16. 2014
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.. 16. 2013
A genome-wide high-resolution array-CGH analysis of cutaneous melanoma and comparison of array-CGH to FISH in diagnostic evaluation.. 15. 2013
A novel long-range PCR sequencing method for genetic analysis of the entire PKD1 gene.. 14. 2012
Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas.. 13. 2011
Copy number gains in 11q13 and 8q24 [corrected] are highly linked to prognosis in cutaneous malignant melanoma.. 13. 2011
Archival fine-needle aspiration cytopathology (FNAC) samples: untapped resource for clinical molecular profiling.. 12. 2010
A commercial real-time PCR kit provides greater sensitivity than direct sequencing to detect KRAS mutations: a morphology-based approach in colorectal carcinoma.. 12. 2010
Precision of pyrosequencing assay to measure LINE-1 methylation in colon cancer, normal colonic mucosa, and peripheral blood cells.. 12. 2010
A rapid and reliable test for BRCA1 and BRCA2 founder mutation analysis in paraffin tissue using pyrosequencing.. 11. 2009
KRAS mutations: an old oncogene becomes a new predictive biomarker.. 10. 2008
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
EGFR mutations in lung adenocarcinomas: clinical testing experience and relationship to EGFR gene copy number and immunohistochemical expression.. 10. 2008
DNA degradation test predicts success in whole-genome amplification from diverse clinical samples.. 9. 2007
Evaluation of markers for CpG island methylator phenotype (CIMP) in colorectal cancer by a large population-based sample.. 9. 2007
Amplification refractory mutation system, a highly sensitive and simple polymerase chain reaction assay, for the detection of JAK2 V617F mutation in chronic myeloproliferative disorders.. 9. 2007
Cyclin D1, a novel molecular marker of minimal residual disease, in metastatic neuroblastoma.. 9. 2007
Detection of mutant BRAF alleles in the plasma of patients with metastatic melanoma.. 9. 2007
Semiautomated multiplexed quantum dot-based in situ hybridization and spectral deconvolution.. 9. 2007
Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.. 8. 2006
CpG island methylator phenotype-low (CIMP-low) in colorectal cancer: possible associations with male sex and KRAS mutations.. 8. 2006
Microarray analysis of thyroid nodule fine-needle aspirates accurately classifies benign and malignant lesions.. 8. 2006
beta-Glucuronidase is an optimal normalization control gene for molecular monitoring of chronic myelogenous leukemia.. 8. 2006
Molecular monitoring of chronic myelogenous leukemia: identification of the most suitable internal control gene for real-time quantification of BCR-ABL transcripts.. 8. 2006
Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis.. 8. 2006
Sensitive sequencing method for KRAS mutation detection by Pyrosequencing.. 7. 2005
Multiplex RT-PCR for the detection of leukemia-associated translocations: validation and application to routine molecular diagnostic practice.. 5. 2003
Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases.. 4. 2002
Spinal muscular atrophy genetic testing experience at an academic medical center.. 4. 2002
Heteroduplex formation in SMN gene dosage analysis.. 3. 2001
Polymerase chain reaction detection of Kaposi's sarcoma-associated herpesvirus-optimized protocols and their application to myeloma.. 3. 2001
Specificity of TLS-CHOP rearrangement for classic myxoid/round cell liposarcoma: absence in predominantly myxoid well-differentiated liposarcomas.. 2. 2000
Expedited Analysis and Reporting of Multiple Mutations that Modify Medical Management of Myeloid Malignancies: It's About (Turnaround) Time! 2018
Authors' Reply. 2018
Alignment of Fellowship Training with Practice Patterns for Molecular Pathologists: A Report of the Association for Molecular Pathology Training and Education Committee. 2022
Containers in Bioinformatics: Applications, Practical Considerations, and Best Practices in Molecular Pathology. 2022
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows: A Report of the Association for Molecular Pathology Training and Education Committee. 2021
The role of MGMT testing in clinical practice: a report of the association for molecular pathology. 2013
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
Clinical categories of neuroblastoma are associated with different patterns of loss of heterozygosity on chromosome arm 1p. 2000

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