Molecular Dx

CPIC Guideline for SLCO1B1, ABCG2, and CYP2C9 Genotypes Links Pharmacogenomics to Statin Safety Clinical pharmacology and therapeutics 2022 Landmark-class CPIC 2022 Update: CYP2C19 Genotype Now Drives Broader Antiplatelet Therapy Recommendations for Clopidogrel Clinical pharmacology and therapeutics 2022 Landmark-class Preimplantation Genetic Testing for Aneuploidy Does Not Improve Cumulative IVF Live-Birth Rates The New England journal of medicine 2021 Landmark-class Ticagrelor Beats Clopidogrel in CYP2C19 Loss-of-Function Carriers After Minor Stroke The New England journal of medicine 2021 Landmark-class Afirma vs ThyroSeq for Indeterminate Thyroid Nodules: Randomized Head-to-Head Trial JAMA oncology 2021 Landmark-class Tazemetostat Shows Durable Responses in EZH2-Mutant Follicular Lymphoma The Lancet. Oncology 2020 Landmark-class First-in-Human Trial of CRISPR-Edited PD-1 Knockout T Cells in Lung Cancer Nature medicine 2020 Landmark-class TOPARP-B Validates Olaparib Activity in Prostate Cancer with DNA Repair Defects The Lancet. Oncology 2019 Landmark-class POPular Genetics Trial Validates CYP2C19-Guided Antiplatelet Selection After Primary PCI The New England journal of medicine 2019 Landmark-class PERCH Study Maps Pneumonia Aetiology in Children Using Multiplex PCR Across Seven Countries Lancet (London, England) 2019 Landmark-class Metagenomic NGS of Cerebrospinal Fluid Improves Diagnosis of Meningitis and Encephalitis The New England journal of medicine 2019 Landmark-class PAGE Study: Prenatal Exome Sequencing Identifies Genetic Diagnoses in 8.5% of Fetal Anomalies Lancet (London, England) 2019 Landmark-class CPIC Guideline: TPMT and NUDT15 Genotyping Essential for Safe Thiopurine Dosing Across Ancestries Clinical pharmacology and therapeutics 2019 Landmark-class DPYD Genotype-Guided Fluoropyrimidine Dosing Improves Safety in Cancer Patients The Lancet. Oncology 2018 Landmark-class NEJM Review: Next-Generation Sequencing for Diagnosing Suspected Genetic Disorders The New England journal of medicine 2018 Landmark-class TNT Trial: BRCA1/2 Mutation Status Predicts Carboplatin Response in Triple-Negative Breast Cancer Nature medicine 2018 Landmark-class CPIC Guideline Update: DPYD Genotyping Before Fluoropyrimidine Chemotherapy to Prevent Severe Toxicity Clinical pharmacology and therapeutics 2017 Landmark-class Seven Molecular Subgroups of Medulloblastoma Refine Risk Stratification Beyond Standard Four The Lancet. Oncology 2017 Landmark-class DNA Methylation Profiling Outperforms WHO Grading for Meningioma Prognosis The Lancet. Oncology 2017 Landmark-class Genomic Loss of Heterozygosity by NGS Predicts PARP Inhibitor Response in Ovarian Cancer The Lancet. Oncology 2016 Landmark-class 2016 WHO Classification of Myeloid Neoplasms and Acute Leukemia: Key Revisions Blood 2016 Landmark-class HPV 16/18 Genotyping by Real-Time PCR Provides Clear Risk Stratification in Women with Normal Cytology Journal of clinical microbiology 2026 Landmark-class Multiplex Droplet Digital PCR Covers 10 NPM1 Mutations for AML Measurable Residual Disease Clinical chemistry 2026 Landmark-class Oral PCSK9 Inhibitor Enlicitide Slashes LDL-C by 58% in Familial Hypercholesterolaemia JAMA 2026 Landmark-class Multiplex Serology Assay Distinguishes Mpox Infection from Vaccinia Vaccination Using Ortholog Ratios Journal of clinical microbiology 2025 Landmark-class Dual-Target Measles PCR on Panther Fusion Differentiates Wild-Type from Vaccine Strains Amid US Outbreak Journal of clinical microbiology 2025 Landmark-class Whole-Genome Sequencing for AMR Surveillance: Methodologies, Validation, and Standardization Challenges Clinical microbiology reviews 2025 Landmark-class Expert Consensus: Routine NGS Not Warranted in All Sarcoma Patients, Expert Centers Essential JAMA oncology 2025 Landmark-class Machine Learning on MALDI-TOF Spectra Predicts Antimicrobial Resistance but Requires Local Retraining Journal of clinical microbiology 2025 Landmark-class Lung Cancer in Never-Smokers: NGS-Driven Genomic Profiling Guides Targeted Therapy JAMA 2025 Landmark-class Cefazolin Non-Inferior to Cloxacillin for MSSA Bacteraemia with Better Tolerability Lancet (London, England) 2025 Landmark-class Nordic Consensus Recommendations for Clinical Bioinformatics in Whole-Genome Sequencing Diagnostics Genome medicine 2025 Landmark-class DNA Methylation Markers ZNF582 and ASCL1 Predict Progression to Anal Cancer in High-Risk Patients EBioMedicine 2025 Landmark-class Revumenib Shows Meaningful Responses in NPM1-Mutated Relapsed/Refractory AML Blood 2025 Landmark-class Cancer of Unknown Primary: Molecular Profiling Transforms a Diagnostic Dead End Nature reviews. Clinical oncology 2025 Landmark-class Personalised Cancer Vaccines: NGS-Guided Neoantigen Targeting Enters Pivotal Trials Cancer discovery 2025 Landmark-class Mast Cell Heterogeneity Predicts Anti-PD-1 Response in Triple-Negative Breast Cancer Nature medicine 2025 Landmark-class Blood-Based Biomarkers for Neurological Disorders: From Simoa to Clinical Implementation Annals of laboratory medicine 2025 Landmark-class Venetoclax-Decitabine Non-Inferior to Intensive Chemotherapy in Young AML Patients Blood 2025 Landmark-class Noninvasive Prenatal Testing for Red Blood Cell and Platelet Antigens Enters Clinical Practice Blood 2025 Landmark-class Broad 324-Gene Panel Identifies More Matched Therapies but No Outcome Gain in Advanced Cancers Nature medicine 2025 Landmark-class Molecular Testing Now Indispensable for WHO Classification of CNS Tumors JAMA oncology 2025 Landmark-class Largest Bipolar Disorder GWAS Identifies 298 Risk Loci and Implicates GABAergic Interneurons Nature 2025 Landmark-class pi-HuB: International Initiative Maps the Complete Human Proteome for Precision Medicine Nature 2024 Landmark-class DeepGEM: Deep Learning Predicts Gene Mutations from Routine Histology Slides in Lung Cancer The Lancet. Oncology 2024 Landmark-class Synthetic Lethality: From PARP Inhibitors to a New Generation of Targeted Cancer Therapies Nature reviews. Clinical oncology 2024 Landmark-class Triple Epigenetic-Immunotherapy Overcomes Anti-PD-1 Resistance in Hodgkin Lymphoma Blood 2024 Landmark-class Obinutuzumab Outperforms Rituximab in Mantle Cell Lymphoma with Better MRD Clearance Blood 2024 Landmark-class EFLM Updates European Urinalysis Guideline with New Performance Standards Clinical chemistry and laboratory medicine 2024 Landmark-class Lancet Prostate Cancer Commission: Projected Case Surge Demands Diagnostic Capacity Scale-Up Lancet (London, England) 2024 Landmark-class Triple Combination of Anti-PD-1, HDAC Inhibitor, and Anti-VEGF Active in MSS Colorectal Cancer Nature medicine 2024 Landmark-class Niacin Metabolites 2PY and 4PY Linked to Cardiovascular Disease Risk via Vascular Inflammation Nature medicine 2024 Landmark-class Preemptive Pharmacogenomic Testing Cuts Psychiatric Adverse Events and Costs in Landmark PREPARE Trial EBioMedicine 2024 Landmark-class Microbiome-Derived Metabolites Show Promise for Pancreatic Cancer Risk Assessment Clinical chemistry 2024 Landmark-class Cannabis Exposure in Pregnancy Linked to Placental Dysfunction by LC-MS/MS-Confirmed Urine Testing JAMA 2023 Landmark-class Dual HER2 Blockade with Pyrotinib-Trastuzumab-Docetaxel Doubles PFS in Metastatic Breast Cancer BMJ (Clinical research ed.) 2023 Landmark-class BIOFIRE Joint Infection Panel Detects 39 Targets in Synovial Fluid in About One Hour Journal of clinical microbiology 2023 Landmark-class Molecular Tumor Boards: Evolving Role in Precision Oncology and Biomarker Interpretation Nature reviews. Clinical oncology 2023 Landmark-class PharmVar Tutorial Standardises CYP2D6 Structural Variant Detection and Reporting Clinical pharmacology and therapeutics 2023 Landmark-class Primary Brain Tumours: Molecular Diagnostics Drive the WHO 2021 CNS Classification Lancet (London, England) 2023 Landmark-class NTRK Fusion Testing in Thyroid Carcinoma: Expert Consensus on a Diagnostic Algorithm JAMA oncology 2023 Landmark-class Simplexa Congenital CMV Direct PCR Achieves Near-Perfect Agreement for Newborn Screening in Saliva and Urine Journal of clinical microbiology 2023 Landmark-class Updated UK Guidelines for HER2 Assessment in Breast Cancer Journal of clinical pathology 2022 Landmark-class LC-MS/MS in Clinical Diagnostics: A Primer on Implementation and Quality Management Nature reviews. Methods primers 2022 Landmark-class Multi-Omics Machine Learning Classifies Endocrine Hypertension Subtypes with 92% Accuracy EBioMedicine 2022 Landmark-class CPIC Guideline: G6PD Genotyping to Classify Medication-Induced Haemolysis Risk Clinical pharmacology and therapeutics 2022 Landmark-class Pharmacogenomic Testing Reduces Drug-Gene Interactions in Depression but Shows Modest Remission Benefit JAMA 2022 Landmark-class AI Predicts Genetic Alterations from H&E Slides: Systematic Review of the Evidence The Journal of pathology 2022 Landmark-class NIH SAVE Programme Defines Framework for Real-Time SARS-CoV-2 Variant Risk Assessment Nature 2022 Landmark-class Cancer Proteogenomics Integrates Protein Data With Genomics to Reveal New Therapeutic Targets Nature reviews. Cancer 2022 Landmark-class Beyond the Exome: A Guide to Diagnosing Rare and Undiagnosed Diseases Genome medicine 2022 Landmark-class Meta-Analysis Confirms ADT Prolongation Improves Metastasis-Free Survival in Prostate Cancer Radiotherapy The Lancet. Oncology 2022 Landmark-class Candida auris Detection: From Sequencing to MALDI-TOF and Rapid Molecular Tests Journal of clinical microbiology 2022 Landmark-class Deep Learning in Oncology: From Digital Pathology to Multi-Omics Integration Genome medicine 2021 Landmark-class Carboplatin Improves Survival in High-Risk Group 3 Medulloblastoma JAMA oncology 2021 Landmark-class Bacterial Meningitis: Conjugate Vaccines Reduce Incidence but Diagnostic Challenges Persist Lancet (London, England) 2021 Landmark-class CPIC Guideline: MT-RNR1 Genotyping to Prevent Aminoglycoside-Induced Hearing Loss Clinical pharmacology and therapeutics 2021 Landmark-class IDH Mutations as a Therapeutic Target Across Multiple Cancer Types Nature reviews. Clinical oncology 2021 Landmark-class 67% of MSI-High RAS/BRAF Wild-Type Colorectal Cancers Harbor Targetable Kinase Fusions Detectable by IHC and FISH Human pathology 2021 Landmark-class NTRK Fusions Across Solid Tumours: Biology, Prevalence, and Testing Strategies Human pathology 2021 Landmark-class CPIC Opioid Guideline: CYP2D6 Genotyping Recommended for Codeine and Tramadol Prescribing Clinical pharmacology and therapeutics 2021 Landmark-class Best Practices for Variant Calling in Clinical Next-Generation Sequencing Genome medicine 2020 Landmark-class Advances in Molecular Diagnostics for Tuberculosis Detection and Drug Resistance Journal of clinical microbiology 2020 Landmark-class CPIC Guideline: CYP2C19 Genotype-Guided Proton Pump Inhibitor Dosing Clinical pharmacology and therapeutics 2020 Landmark-class TAILOR-PCI Trial: Genotype-Guided P2Y12 Inhibitor Selection Narrowly Misses Primary Endpoint JAMA 2020 Landmark-class Hereditary Diffuse Gastric Cancer: Updated CDH1 Genetic Testing Guidelines The Lancet. Oncology 2020 Landmark-class Genetics of MDS-to-Secondary AML Progression Mapped by Next-Generation Sequencing Blood 2020 Landmark-class CheckMate 143: Nivolumab Does Not Improve Survival Over Bevacizumab in Recurrent Glioblastoma JAMA oncology 2020 Landmark-class MET-Dependent Solid Tumours: Diagnostic Approaches and Targeted Therapy Landscape Nature reviews. Clinical oncology 2020 Landmark-class Stool-Based PCR Achieves 96% Sensitivity for Noninvasive H. pylori Detection and Clarithromycin Resistance Testing Journal of clinical microbiology 2020 Landmark-class Genomic Risk Stratification Could Transform Smoldering Myeloma Management JAMA oncology 2020 Landmark-class Albumin RNA In Situ Hybridization Distinguishes Intrahepatic Cholangiocarcinoma from Metastatic Adenocarcinoma Journal of clinical pathology 2019 Landmark-class Lancet Genomic Medicine Series: Pharmacogenomics for Individualizing Drug Therapy Lancet (London, England) 2019 Landmark-class Building the Evidence Base for Genomic Medicine in Routine Clinical Care Lancet (London, England) 2019 Landmark-class WINTHER Trial Shows Combined DNA and RNA Profiling Improves Precision Oncology Matching Nature medicine 2019 Landmark-class Proteogenomics Adds Clinical Value Beyond Genomics-Only Cancer Profiling Nature reviews. Clinical oncology 2019 Landmark-class Somatic and Germline Genomics Reshape Childhood ALL Classification and Risk Stratification Nature reviews. Clinical oncology 2019 Landmark-class Rapid Respiratory Virus PCR Cuts Hospital Stay by 21 Hours and Reduces Unnecessary Testing Journal of clinical microbiology 2019 Landmark-class Apolipoprotein Profiling by Mass Spectrometry Enables Precision Cardiovascular Risk Assessment Annals of clinical biochemistry 2019 Landmark-class The Microbiome as a Modulator of Cancer Therapy Response Nature medicine 2019 Landmark-class Molecular Markers of Regulated Necrosis Enable Pathological Detection of Targetable Cell Death Pathways The Journal of pathology 2019 Landmark-class Genomic Landscape of Myelodysplastic Syndromes: A Comprehensive Review Blood 2019 Landmark-class Pan-Trk Immunohistochemistry Is 97% Sensitive and 98% Specific for NTRK Fusions in Pediatric Mesenchymal Tumors The American journal of surgical pathology 2018 Landmark-class Molecular Rapid Diagnostics with Stewardship Are Cost-Effective for Bloodstream Infections Clinical microbiology reviews 2018 Landmark-class The Cancer Genome as Biomarker: DNA Repair Deficiency and PARP Inhibitor Response The Journal of pathology 2018 Landmark-class Real-Time PCR Assay for Candida auris Surveillance Cuts Detection Time from 14 Days to 4 Hours Journal of clinical microbiology 2018 Landmark-class Beyond BRCA Founders: Panel Sequencing Uncovers Additional Cancer Risk in Ashkenazi Jewish Women JAMA oncology 2017 Landmark-class Bevacizumab Plus Lomustine Fails to Improve Overall Survival in Recurrent Glioblastoma The New England journal of medicine 2017 Landmark-class Syndromic Multiplex Panels Reshape Clinical Microbiology Practice Clinical microbiology reviews 2017 Landmark-class CPIC Guideline Links CYP2C19 Genotype to Voriconazole Dosing Clinical pharmacology and therapeutics 2017 Landmark-class TP53 and SMAD4 Inactivation Are Late Events in Pancreatic Cancer Progression The Journal of pathology 2017 Landmark-class Molecular Genetics of Gliomas Drives New Classification and Therapy Paradigm Nature reviews. Clinical oncology 2016 Landmark-class Clinical NGS in Pediatric Oncology Yields Actionable Findings in Two-Thirds of High-Risk Cases Genome medicine 2016 Landmark-class Tumour Heterogeneity Reshapes Precision Treatment in Colorectal Cancer Nature reviews. Clinical oncology 2016 Landmark-class CYP2C19 Loss-of-Function Alleles Eliminate Clopidogrel-Aspirin Benefit After Minor Stroke JAMA 2016 Landmark-class NHS Implementation Study Shows NIPT for Down Syndrome Reduces Invasive Testing by Thousands Annually BMJ (Clinical research ed.) 2016 Landmark-class Newer Line Probe Assays Prove Non-Inferior for Rapid MDR-TB Detection Journal of clinical microbiology 2016 Landmark-class Systemic Amyloidosis: Advances in Mass Spectrometry Typing and Diagnostic Imaging Lancet (London, England) 2015 Landmark-class FDA Outlines Regulatory Path for Clinical Mass Spectrometry Devices Clinical chemistry 2015 Landmark-class Antimicrobial Resistance Mechanisms in M. tuberculosis: A Translational Framework Clinical microbiology reviews 2026 Significance 7/10 Three Key Practice Updates in Non-Hodgkin Lymphoma Classification for 2026 Human pathology 2025 Significance 7/10 Prediabetes Remission Without Weight Loss Prevents Type 2 Diabetes via Visceral Fat Redistribution Nature medicine 2025 Significance 7/10 Methylcobalamin Halves Severe Hand-Foot Syndrome During Capecitabine Therapy BMJ (Clinical research ed.) 2025 Significance 7/10 Senolytics Combined with Anti-PD-1 Therapy Show Promise in Head and Neck Cancer Nature medicine 2025 Significance 7/10 QIAstat-Dx GI Panel 2 Detects 17 Enteric Pathogens with Over 90% Agreement in Multicenter Trial Journal of clinical microbiology 2025 Significance 7/10 Laboratory Medicine Central to CKD-MBD Management: PTH, Vitamin D, and Bone Turnover Markers Reviewed Clinical chemistry and laboratory medicine 2025 Significance 7/10 Large UK Cohort Maps KRAS Mutation Landscape in Non-Small Cell Lung Cancer Journal of clinical pathology 2025 Significance 7/10 GWAS Identifies First Genetic Locus for Drug-Resistant Focal Epilepsy EBioMedicine 2025 Significance 7/10 Pharmacogenomic Testing Evolves From Targeted Genotyping Toward Sequencing-Based Approaches Annals of laboratory medicine 2025 Significance 7/10 Urine-Based HPV Testing by Real-Time PCR Achieves 82% Sensitivity in Meta-Analysis of 15 Studies Journal of clinical microbiology 2025 Significance 7/10 Exemestane Cross-Reacts with All Androstenedione Immunoassays, Causing Falsely Elevated Results Annals of laboratory medicine 2025 Significance 7/10 Metabolomic Biomarkers Show Promise for Breast Cancer Diagnosis and Prognosis Annals of laboratory medicine 2025 Significance 7/10 Molecular Profiling Defines High-Risk Mantle Cell Lymphoma and Guides Therapy Selection Blood 2025 Significance 7/10 Practical Guide for Implementing DPYD Genotyping in Fluoropyrimidine Prescribing Clinical pharmacology and therapeutics 2025 Significance 7/10 Managing Post-Immunotherapy Relapse in B-ALL: Antigen Escape and Lineage Switch Blood 2025 Significance 7/10 Philadelphia Chromosome-Like ALL: NGS-Guided Targeted Therapy Strategies Blood 2025 Significance 7/10 Plasma Proteomics Identifies Mortality-Associated Protein Signatures in Sepsis EBioMedicine 2024 Significance 7/10 Rethinking UTI Diagnostics: The Case for Rapid, Culture-Independent Testing Clinical microbiology reviews 2024 Significance 7/10 Mass Spectrometry Transforms Clinical Immunoglobulin Analysis and M-Protein Detection Clinical chemistry 2024 Significance 7/10 Hybridization Bait Capture: Target Enrichment Advances Public Health Microbiology Clinical microbiology reviews 2024 Significance 7/10 Multiplexed Tissue Imaging Poised to Transform Precision Oncology Workflows Cancer discovery 2024 Significance 7/10 Molecular Diagnostics in CSF: Comprehensive Review of PCR Methods for CNS Infections Clinical microbiology reviews 2024 Significance 7/10 Capivasertib-Fulvestrant Maintains Quality of Life While Improving PFS in HR-Positive Breast Cancer The Lancet. Oncology 2024 Significance 7/10 Updated Guidance for Processing CF Respiratory Samples in the CFTR Modulator Era Clinical microbiology reviews 2024 Significance 7/10 Antiviral Resistance Testing in 2024: Shifting From Phenotypic to Genotypic Methods Journal of clinical microbiology 2024 Significance 7/10 Small-Cell Lung Cancer: Molecular Subtypes Open New Diagnostic and Therapeutic Windows Nature reviews. Clinical oncology 2024 Significance 7/10 CPIC Guideline: CYP2D6 Genotyping for Metoprolol Dose Adjustment Clinical pharmacology and therapeutics 2024 Significance 7/10 Computational Framework Proposed to Bridge RNA-Seq Signatures into PCR-Based Clinical Diagnostics EBioMedicine 2024 Significance 7/10 CPIC Finds Insufficient Evidence to Change Methadone Dosing Based on CYP2B6 Genotype Clinical pharmacology and therapeutics 2024 Significance 7/10 First-in-Human KAT6A/B Inhibitor Shows Durable Activity in ER-Positive Breast Cancer Nature medicine 2024 Significance 7/10 Laboratory Diagnostics for Endocrine Hypertension: From Current Biomarkers to Omics Clinical chemistry 2024 Significance 7/10 Validated Candida auris PCR Screening Assay Cuts Turnaround from Days to Hours Journal of clinical microbiology 2024 Significance 7/10 Automated NeuMoDx Mpox Assay Differentiates Clade I from Clade II with 99% Sensitivity Journal of clinical microbiology 2024 Significance 7/10 Microbiologic Diagnosis of Implant-Associated Infections: From Culture to NGS Clinical microbiology reviews 2024 Significance 7/10 Validating Biological Age Biomarkers: From Epigenetic Clocks to Multi-Omics Predictors Nature medicine 2024 Significance 7/10 Urine Albumin Measurement Standardization Critical for CKD Diagnosis Clinical chemistry 2024 Significance 7/10 NeoPACT: Anthracycline-Free Chemoimmunotherapy Shows Promise in Triple-Negative Breast Cancer JAMA oncology 2024 Significance 7/10 EGFR and MET Expression as Predictive Biomarkers for Amivantamab-Lazertinib in Osimertinib-Resistant NSCLC Nature medicine 2023 Significance 7/10 QIAstat-Dx Meningitis/Encephalitis Panel Matches BioFire FilmArray in Multicenter Evaluation Journal of clinical microbiology 2023 Significance 7/10 Direct-from-Blood Pathogen Detection: Molecular Technologies Challenge the Blood Culture Paradigm Journal of clinical microbiology 2023 Significance 7/10 Metagenomic Sequencing for Agnostic Viral Pathogen Detection: Promise and Barriers to Clinical Adoption Clinical microbiology reviews 2023 Significance 7/10 Parathyroid Hormone Measurement Evolves from Immunoassay to LC-MS/MS Clinical chemistry and laboratory medicine 2023 Significance 7/10 Cepheid Xpert GBS LB XC Test Validated in Multicenter Study for Prenatal GBS Screening Journal of clinical microbiology 2022 Significance 7/10 Lancet Seminar Reviews Precision Medicine Opportunities in Type 2 Diabetes Including Pharmacogenomics Lancet (London, England) 2022 Significance 7/10 Systematic Review Finds Most Pharmacogenomic Tests Are Cost-Effective Clinical pharmacology and therapeutics 2022 Significance 7/10 LC-MS/MS Operations Guide Covers Validation, QA, and Troubleshooting for Clinical Labs Annals of laboratory medicine 2022 Significance 7/10 Systematic Review Establishes Best Practices for LC-MS/MS Calibration in Clinical Labs Annals of laboratory medicine 2022 Significance 7/10 MSI/dMMR Testing in Pancreatic and Ampullary Carcinomas: Prevalence, Histotype Correlations, and Immunotherapy Implications Human pathology 2022 Significance 7/10 Radiotheranostics Enter Mainstream Oncology: A Clinical Pharmacology Primer Clinical pharmacology and therapeutics 2022 Significance 7/10 Acuitas AMR Gene Panel Accurately Detects 28 Resistance Markers in Cultured Bacterial Isolates Journal of clinical microbiology 2022 Significance 7/10 Digital PCR for SARS-CoV-2: Lessons for Future Pandemic Diagnostics Clinical microbiology reviews 2022 Significance 7/10 Comprehensive Guide to LC-MS/MS Method Development for Clinical Diagnostic Assays Annals of laboratory medicine 2022 Significance 7/10 Genetic and Epigenetic Landscape of Cutaneous T-Cell Lymphoma Mapped by NGS Blood 2022 Significance 7/10 COVID-19 Pandemic Innovations Fuel Next Generation of Infectious Disease Diagnostics Clinical biochemistry 2022 Significance 7/10 Rapid Antimicrobial Susceptibility Testing: Where Technology Stands and What Is Still Needed Clinical chemistry 2021 Significance 7/10 Inflammation Downregulates Drug-Metabolising Enzymes: Implications for Therapeutic Drug Monitoring Clinical pharmacology and therapeutics 2021 Significance 7/10 Pharmacogenetics of Antipsychotics: From CYP2D6 Dosing to Tardive Dyskinesia Risk Genes Clinical pharmacology and therapeutics 2021 Significance 7/10 Can Lab Tests Predict SARS-CoV-2 Infectivity? A Review of PCR, Antigen, and Subgenomic RNA Approaches Journal of clinical microbiology 2021 Significance 7/10 Race-Conscious Pharmacogenomics: Ancestry-Specific Variants and Equity in Drug Response Clinical pharmacology and therapeutics 2021 Significance 7/10 Immunopharmacogenomics: Mechanisms Behind HLA-Linked Drug Hypersensitivity Reactions Clinical pharmacology and therapeutics 2021 Significance 7/10 Pharmacogenetics Implementation Demands Broader Evidence Beyond RCTs Clinical pharmacology and therapeutics 2021 Significance 7/10 MRI Radiomics Plus Machine Learning Predicts Axillary Lymph Node Status in Breast Cancer EBioMedicine 2021 Significance 7/10 qPCR Kit Outperforms Microscopy for Early Detection of Congenital Chagas Disease EBioMedicine 2021 Significance 7/10 Computational Tools for Interpreting Rare Pharmacogenomic Variants from NGS Data Clinical pharmacology and therapeutics 2021 Significance 7/10 Rare VWF Gene Variants Predict von Willebrand Factor Antigen Levels Beyond Known Pathogenic Mutations Blood 2021 Significance 7/10 PERMED-01 Trial: Extensive Molecular Profiling Finds Actionable Targets in 71% of Advanced Cancers Genome medicine 2021 Significance 7/10 SARS-CoV-2 Detection Technologies: From PCR to Point-of-Care Biosensors Clinical microbiology reviews 2021 Significance 7/10 Epigenetic Combination Therapy Highly Active in T-Cell Lymphoma, NGS Identifies Mutation-Response Correlation Blood 2021 Significance 7/10 ALK and ROS1 Rearrangement Testing in NSCLC: IHC, FISH, and the Path to NGS Journal of clinical pathology 2021 Significance 7/10 Multi-Omics Pipelines Transform Diagnosis of Mitochondrial Disease The Journal of pathology 2021 Significance 7/10 Single-Cell Meta-Analysis Maps SARS-CoV-2 Entry Gene Expression Across Tissues and Demographics Nature medicine 2021 Significance 7/10 Unyvero BAL Panel Identifies Pneumonia Pathogens and Resistance Markers in 4.5 Hours Journal of clinical microbiology 2021 Significance 7/10 Cancer Epigenomics: Proper Controls and the Road to Clinical Translation Genome medicine 2021 Significance 7/10 Glioma Intratumoral Heterogeneity Challenges Molecular Diagnostics and Targeted Therapy Cancer discovery 2021 Significance 7/10 Clinical Metagenomic Sequencing for Pathogen Detection: When to Test and How to Interpret Clinical chemistry 2020 Significance 7/10 Largest Genomic Study of Low-Grade Serous Ovarian Carcinoma Identifies Actionable Targets in 90% of Cases The Journal of pathology 2020 Significance 7/10 16S rRNA Gene Sequencing for Bacterial Identification: Performance, Limits, and the Road to NGS Clinical microbiology reviews 2020 Significance 7/10 Xpert Carba-R Detects Carbapenemase Genes Directly from Sputum in Under 2 Hours Journal of clinical microbiology 2020 Significance 7/10 Sarcoma Epigenomics: Chromatin Pathway Alterations as Diagnostic and Therapeutic Targets Nature reviews. Cancer 2020 Significance 7/10 When to Order NGS in Oncology: A Practical Guide to Precision Medicine in Clinical Practice EClinicalMedicine 2020 Significance 7/10 Mass Spectrometry Outperforms Immunoassays for Cortisol in Cushing's Syndrome Screening Annals of laboratory medicine 2020 Significance 7/10 MALDI Mass Spectrometry: From Principles to Expanding Clinical Applications Clinical chemistry and laboratory medicine 2020 Significance 7/10 New Diagnostics for Invasive Fungal Infections: From Antigen Testing to Molecular Assays and VOC Detection Journal of clinical microbiology 2020 Significance 7/10 Proteomic Mass Spectrometry Expands Its Role Across Pathology and Laboratory Medicine Clinical biochemistry 2020 Significance 7/10 CPIC Guideline: CYP2C9 Genotyping for Safer NSAID Prescribing Clinical pharmacology and therapeutics 2020 Significance 7/10 BD Phoenix CPO Detect Accurately Identifies and Classifies Carbapenemases During Routine Susceptibility Testing Journal of clinical microbiology 2020 Significance 7/10 Molecular Diagnostics and Targeted Therapy Transform Management of Advanced Systemic Mastocytosis Blood 2020 Significance 7/10 ePlex Blood Culture ID Gram-Positive Panel Identifies 20 Pathogens and 4 Resistance Genes with High Accuracy Journal of clinical microbiology 2020 Significance 7/10 Mass Spectrometry Advances as the Gold Standard for Sex Hormone Measurement Clinical biochemistry 2020 Significance 7/10 LC-MS/MS Matures into Routine Clinical Diagnostics After a Decade of Growth Clinical biochemistry 2020 Significance 7/10 Lab Consolidation Enables AI-Driven Genomics and Transformative Diagnostic Platforms Clinical microbiology reviews 2020 Significance 7/10 Rapid Immunochromatographic Test Detects and Serogroups N. meningitidis from CSF in Under 15 Minutes Journal of clinical microbiology 2020 Significance 7/10 Digital PCR in Clinical Microbiology: Advantages, Limitations, and Practical Considerations Clinical chemistry 2020 Significance 7/10 Policy Challenges in Genomic Medicine: Reimbursement, FDA Oversight, and Gene Patent Threats Clinical chemistry 2020 Significance 7/10 Non-Driver Mutations in TP53 and Splicing Genes Predict Disease Transformation in Hydroxycarbamide-Resistant Essential Thrombocythemia Blood 2019 Significance 7/10 Clinical Mass Spectrometry Expands Across Pathology Disciplines Journal of clinical pathology 2019 Significance 7/10 Molecular Classification of CNS Tumors: Recurrent Genetic Alterations Since WHO 2016 Human pathology 2019 Significance 7/10 First US Surveillance Finds 7.5% Macrolide-Resistant Mycoplasma pneumoniae with Regional Variation Journal of clinical microbiology 2019 Significance 7/10 Novel PCR Assay Simultaneously Detects M. genitalium and Fluoroquinolone Resistance Journal of clinical microbiology 2019 Significance 7/10 8-Aminoquinoline Therapy for Latent Malaria: G6PD Testing Remains the Critical Bottleneck Clinical microbiology reviews 2019 Significance 7/10 MALDI Imaging Mass Spectrometry Poised to Complement IHC in Pathology Workflows Journal of clinical pathology 2019 Significance 7/10 International Consensus Criteria Standardise T-PLL Diagnosis and Response Assessment Blood 2019 Significance 7/10 Mass Spectrometry Serum Disaccharide Assay Shows Promise as Panfungal Diagnostic Across Six European Centers Journal of clinical microbiology 2019 Significance 7/10 Multiplex PCR Tracks Rapid Emergence of Fluoroquinolone-Resistant E. coli ST1193 Across the US Journal of clinical microbiology 2019 Significance 7/10 Aberrant Glycosylation as a Source of Cancer Biomarkers: Analytical Advances and Clinical Potential Clinical chemistry and laboratory medicine 2019 Significance 7/10 Single-Cell Genomics: From Research Tool to Clinical Laboratory Reality Clinical chemistry 2019 Significance 7/10 Framework for Developing Anti-Metastatic Agents: From Biology to Clinical Strategy Nature reviews. Clinical oncology 2019 Significance 7/10 TP53 Mutation Screening in CLL: NGS Detects Clinically Relevant Subclonal Mutations Missed by Sanger Journal of clinical pathology 2019 Significance 7/10 Current Landscape of MDS Treatment: From Hypomethylating Agents to Novel Targets Blood 2019 Significance 7/10 Fusion Sarcomas: Diagnostic Markers and Detection Methods for Newly Defined Entities Human pathology 2019 Significance 7/10 Personalized Neoantigen Vaccine Generates Intratumoral T Cell Responses in Glioblastoma Nature 2018 Significance 7/10 Phenotypic Assays for Carbapenemase Detection: A Practical Laboratory Review Journal of clinical microbiology 2018 Significance 7/10 Fentanyl Analog Detection: Analytical Challenges in the Synthetic Opioid Epidemic Clinical chemistry 2018 Significance 7/10 Laboratory Testing and Monitoring of Direct Oral Anticoagulants: Current State and Debate Blood 2018 Significance 7/10 FilmArray Meningitis Panel Detects Enterovirus in 25% of Young Infants Evaluated for CNS Infection Journal of clinical microbiology 2018 Significance 7/10 Pathogenesis of T-Cell Lymphomas Revealed by NGS and Gene Expression Profiling Blood 2018 Significance 7/10 Whole-Exome Sequencing Uncovers Diverse Genetic Mechanisms Beyond Familial HLH Genes in Pediatric Hemophagocytic Lymphohistiocytosis Blood 2018 Significance 7/10 European DPWG Guidelines Advance Pharmacogenomic Implementation Across the Continent Clinical pharmacology and therapeutics 2018 Significance 7/10 BCOR Internal Tandem Duplication Defines a New Subtype of High-Grade Uterine Sarcoma The American journal of surgical pathology 2018 Significance 7/10 Alere i Molecular Test Outperforms BD Veritor Antigen Assay for Rapid Strep A Detection Journal of clinical microbiology 2018 Significance 7/10 Proteomic Methods Unlock Tumour Heterogeneity Analysis in Archival FFPE Tissues The Journal of pathology 2018 Significance 7/10 DeepMelt Assay Detects 0.01% Isoniazid-Resistant TB Mutants Through Selective Wild-Type Clamping Journal of clinical microbiology 2018 Significance 7/10 Combined BAL Fractions Essential for Optimal Aspergillus and Mucorales PCR Sensitivity Journal of clinical microbiology 2018 Significance 7/10 Multiplex PCR Identifies Meningitis Pathogens in Culture-Negative CSF Within Hours Journal of clinical microbiology 2018 Significance 7/10 95-Gene Expression Classifier Identifies Primary Tumor Origin in Metastatic Cancers with 84% Accuracy Journal of clinical pathology 2017 Significance 7/10 Dried Blood Spots Cover Over 2,000 Analytes Across All Major Analytical Platforms Clinical chemistry 2017 Significance 7/10 De Novo Mutations in Neurodevelopmental Disorders: Patterns, Databases, and Clinical Impact Genome medicine 2017 Significance 7/10 CARD11 Mutations Predict Ibrutinib Resistance in Relapsed Follicular Lymphoma Blood 2017 Significance 7/10 ROS1 Fusions in NSCLC: Detection Methods for the Clinical Laboratory Journal of clinical pathology 2017 Significance 7/10 Precision Medicine in Biliary Tract Cancers: Actionable Mutations and Emerging Targeted Therapies Cancer discovery 2017 Significance 7/10 Multiplex PCR Simultaneously Identifies N. gonorrhoeae and Predicts Ciprofloxacin Susceptibility Journal of clinical microbiology 2017 Significance 7/10 Daratumumab Plus Pomalidomide-Dexamethasone: Deep MRD Responses in Heavily Treated Myeloma Blood 2017 Significance 7/10 Genome-Wide vs. Panel vs. Single-Gene Testing: Choosing the Right Approach in Hematologic Malignancies Blood 2017 Significance 7/10 Preanalytical Best Practices for LC-MS Analysis of Blood Specimens Clinical biochemistry 2017 Significance 7/10 TaqMan Array Card Tests CSF for 21 Meningitis Pathogens in a Single 2.5-Hour Run Journal of clinical microbiology 2017 Significance 7/10 CPIC Updates Warfarin Dosing Guideline with CYP4F2 and Ancestry-Specific Recommendations Clinical pharmacology and therapeutics 2017 Significance 7/10 Digital PCR Enters the Clinical Microbiology Lab: Advantages Over qPCR Journal of clinical microbiology 2017 Significance 7/10 Idylla Automated PCR Platform Shows 100% Concordance with NGS for Colorectal Cancer Mutation Testing Journal of clinical pathology 2017 Significance 7/10 NGS and GWAS Reshape the Genetic Landscape of Dilated Cardiomyopathy and Heart Failure Genome medicine 2017 Significance 7/10 CPIC Updates Guideline for CYP2D6/CYP2C19-Guided Tricyclic Antidepressant Dosing Clinical pharmacology and therapeutics 2017 Significance 7/10 Portrait Staph ID/R Panel Achieves 99.4% Agreement for Rapid Staphylococcus Identification from Blood Cultures Journal of clinical microbiology 2017 Significance 7/10 Genomic Evolution of Ductal Carcinoma In Situ: Clonal Models of Invasion The Journal of pathology 2016 Significance 7/10 Chronic Kidney Disease: Laboratory Diagnostics from GFR Estimation to Novel Biomarkers Lancet (London, England) 2016 Significance 7/10 Decoding Cancer Evolution Through Genomic Analysis of Tumour Clonal Dynamics The Journal of pathology 2016 Significance 7/10 MALDI-TOF MS Revolutionises Identification of Clinically Important Molds Journal of clinical microbiology 2016 Significance 7/10 NGS Drives Gene Discovery in Mitochondrial Disease: Over 250 Genes Now Implicated The Journal of pathology 2016 Significance 7/10 Digital PCR Outperforms qPCR for Viral Load Quantification Without Calibration Curves Clinical chemistry and laboratory medicine 2016 Significance 7/10 Deutetrabenazine RCT Shows Significant Chorea Reduction in Huntington Disease JAMA 2016 Significance 7/10 Point-of-Care Microbiology Labs: Bringing Rapid PCR Diagnostics Closer to Patients Clinical microbiology reviews 2016 Significance 7/10 Acute Bacterial Meningitis in Adults: Multiplex PCR and Novel Platforms Accelerate Diagnosis Lancet (London, England) 2016 Significance 7/10 Measuring Monoclonal Proteins: From Electrophoresis Limitations to LC-MS/MS Precision Clinical chemistry and laboratory medicine 2016 Significance 7/10 Mass Spectrometry and Free Light Chain Assays Transform Monoclonal Gammopathy Detection Clinical chemistry and laboratory medicine 2016 Significance 7/10 LC-MS/MS in Therapeutic Drug Monitoring: Current Status and Future Directions Clinical biochemistry 2016 Significance 7/10 Lynch Syndrome Screening in Gynecologic Cancers: Current Algorithms and Future Directions The American journal of surgical pathology 2016 Significance 7/10 Detecting Intestinal Carriage of Carbapenemase Producers: Culture vs Molecular Methods Clinical microbiology reviews 2016 Significance 7/10 NGS-Guided Targeted Therapies Reshape the Treatment Landscape for Acute Myeloid Leukemia Blood 2015 Significance 7/10 MALDI-TOF MS Set to Expand Beyond Microbiology Into Broader Clinical Chemistry Clinical chemistry 2015 Significance 7/10 Ambient Ionization Mass Spectrometry for Real-Time Cancer Diagnosis and Surgical Margins Clinical chemistry 2015 Significance 7/10 Anyplex Multiplex PCR Validated for Rapid TB Detection and Isoniazid Resistance in Pulmonary and Extrapulmonary Specimens Journal of clinical microbiology 2015 Significance 7/10 IQ Consortium Reviews Human Mass Balance Study Designs Including Microtracer and AMS Approaches Clinical pharmacology and therapeutics 2026 Significance 6/10 Multicenter Validation of Clonit Toxoplasma PCR Kit Shows 94.7% Clinical Sensitivity Journal of clinical microbiology 2025 Significance 6/10 Twenty Years of Human Bocavirus: From Diagnostic Puzzle to Confirmed Respiratory Pathogen Clinical microbiology reviews 2025 Significance 6/10 Non-Diphtheriae Corynebacterium: An Underestimated Clinical Pathogen Requiring MALDI-TOF Identification Journal of clinical microbiology 2025 Significance 6/10 VMAT2 Inhibitors in Movement Disorders: Pharmacogenetics Shapes Personalised Dosing Lancet (London, England) 2025 Significance 6/10 AI and Molecular Biomarkers Drive Precision Diagnosis in Lupus Nephritis EBioMedicine 2025 Significance 6/10 Primary Renal Ewing Sarcoma: 24-Case Series Identifies Rare EWSR1::ETV4 Fusion The American journal of surgical pathology 2025 Significance 6/10 Novel Diagnostics for Urinary Tract Infections: Molecular Methods and NGS Enter the Lab Journal of clinical microbiology 2025 Significance 6/10 Angioimmunoblastic T-Cell Lymphoma: Diagnostic Pathology and Molecular Landscape Human pathology 2024 Significance 6/10 Cystatin C as a GFR Biomarker: Adoption Challenges and Standardisation Gaps Clinical biochemistry 2024 Significance 6/10 Emerging Technologies in Paediatric Laboratory Medicine: From Microassays to Machine Learning Clinical chemistry and laboratory medicine 2024 Significance 6/10 Laboratory Testing for Prenatal Substance Exposure: Methods, Matrices, and Interpretation Pitfalls Clinical chemistry 2024 Significance 6/10 Micronuclei as Cancer Biomarkers: From Chromosomal Instability to Clinical Application Cancer discovery 2024 Significance 6/10 AUC-Guided Vancomycin TDM With Bayesian Forecasting Recommended for All Paediatric Populations Clinical biochemistry 2024 Significance 6/10 AI Models Show Strong Performance Across Urinalysis Applications Clinical chemistry 2023 Significance 6/10 Immunoassay vs LC-MS for Androgen Measurement: Pitfalls and Clinical Guidance Clinical chemistry 2023 Significance 6/10 Systemic Lupus Erythematosus: Autoantibody Panels and Molecular Diagnostics in SLE BMJ (Clinical research ed.) 2023 Significance 6/10 Co-Occurring Genomic Alterations in Sarcomas: Secondary Hits That Drive Sarcomagenesis The Journal of pathology 2023 Significance 6/10 Genetics of Human Infertility: Expanding Demand for Reproductive Genomic Testing Science (New York, N.Y.) 2023 Significance 6/10 Molecular Approaches Transform Discrimination of Multiple Primary vs Metastatic Lung Cancers EBioMedicine 2023 Significance 6/10 Practical Guide to Investigating Lead, Mercury, and Arsenic Poisoning in General Practice Journal of clinical pathology 2022 Significance 6/10 Updated Review: Nocardia Identification Transformed by MALDI-TOF and Whole Genome Sequencing Clinical microbiology reviews 2022 Significance 6/10 Two Decades of Clinical Mass Spectrometry Progress: From Neonatal Screening to Protein Biomarkers Clinical chemistry and laboratory medicine 2022 Significance 6/10 HIV-1 Drug Resistance Testing From Proviral DNA: Methods, Dynamics, and Clinical Utility Clinical microbiology reviews 2022 Significance 6/10 Synthetic Norovirus RNA Reference Materials Enable Quality Control Across Commercial Detection Kits Annals of laboratory medicine 2022 Significance 6/10 Scoping Review Maps Current State of Pharmacogenomic Clinical Decision Support Clinical pharmacology and therapeutics 2022 Significance 6/10 PharmVar Standardises SLCO1B1 Star Allele Nomenclature for Statin Safety Testing Clinical pharmacology and therapeutics 2022 Significance 6/10 Hepatoid Tumors of the GI Tract: Immunohistochemical and Molecular Profiles for Differential Diagnosis Human pathology 2022 Significance 6/10 NGS Expands the Genetic Landscape of Inherited Thrombocytopenias to Over 40 Genes Blood 2022 Significance 6/10 Advances in HIV Diagnostics: From Rapid Tests to NGS for Ending the Epidemic Clinical biochemistry 2022 Significance 6/10 Molecular Testing Resolves High Diagnostic Discrepancy Rates in Endometrial Stromal Sarcoma Human pathology 2022 Significance 6/10 Simplexa VZV Direct Assay Detects Varicella-Zoster Virus Without Nucleic Acid Extraction Journal of clinical microbiology 2022 Significance 6/10 Laboratory Biomarkers for Multiple Sclerosis: From Oligoclonal Bands to Neurofilament Light Clinical biochemistry 2021 Significance 6/10 Variant Classification Challenges in Hereditary Hemochromatosis Diagnostics Clinical chemistry 2021 Significance 6/10 Treatment Landscape for Malignant Pleural Mesothelioma: Current Options and Future Directions The New England journal of medicine 2021 Significance 6/10 Cancer-Associated Fibroblasts: Emerging Biomarker and Therapeutic Target in the Tumour Microenvironment Nature reviews. Clinical oncology 2021 Significance 6/10 How-To Guide for Building Pharmacogenomic Clinical Decision Support Systems Clinical pharmacology and therapeutics 2021 Significance 6/10 Decade of Pharmacogenomic GWAS: Trends, Discoveries, and the Road to Biobank-Scale Studies Clinical pharmacology and therapeutics 2021 Significance 6/10 PharmVar Catalogues CYP2C9 Star Alleles Critical for Warfarin and NSAID Safety Clinical pharmacology and therapeutics 2021 Significance 6/10 Pharmacogenetic-Guided Antidepressant Prescribing: Clinical Reality and Implementation Barriers Clinical pharmacology and therapeutics 2021 Significance 6/10 Nanopore Sequencing for Tuberculosis: Promise and Gaps in Current Evidence Journal of clinical microbiology 2021 Significance 6/10 Abbott RealTime and Alinity m SARS-CoV-2 Assays Validated with Head-to-Head Platform Comparison Journal of clinical microbiology 2021 Significance 6/10 Burkitt Lymphoma in Adults: Genomic Landscape and Treatment Challenges Blood 2021 Significance 6/10 Ewing Sarcoma: Molecular Pathogenesis, Diagnosis, and Emerging Therapeutic Targets The New England journal of medicine 2021 Significance 6/10 PD-L1 Expression Predicts Avelumab Response in Relapsed NK/T-Cell Lymphoma Blood 2020 Significance 6/10 Culturing the Uncultured: New Strategies for Growing Human Microbiota in the Sequencing Era Clinical microbiology reviews 2020 Significance 6/10 Targeted NGS Reveals Distinctive Mutational Profile of Primary Cutaneous Follicle Center Lymphoma Human pathology 2020 Significance 6/10 Lung Microbiome Challenges Traditional Ventilator-Associated Pneumonia Paradigms EBioMedicine 2020 Significance 6/10 Congenital Dyserythropoietic Anemias: NGS Transforms Diagnosis of Rare Inherited Anemias Blood 2020 Significance 6/10 Sex and Gender Differences in Diagnostics: Implications for Laboratory Reference Ranges Lancet (London, England) 2020 Significance 6/10 HEARTBiT Blood-Based Gene Profiling Assay Validated for Heart Transplant Rejection Monitoring Clinical chemistry 2020 Significance 6/10 JCTLM Task Force Assesses Metrological Traceability Using Creatinine as a Model Measurand Clinical chemistry and laboratory medicine 2020 Significance 6/10 PharmVar GeneFocus: CYP2C19 Nomenclature Underpinning Clopidogrel and PPI Guidelines Clinical pharmacology and therapeutics 2020 Significance 6/10 Comprehensive Review of Cannabinoid Analysis Across Biological Matrices by LC-MS/MS Clinical chemistry 2020 Significance 6/10 Mass Spectrometry Imaging for Predicting Bone Fracture Healing and Cartilage Repair Outcomes Clinical chemistry and laboratory medicine 2020 Significance 6/10 In-House vs. Kit-Based LC-MS/MS Methods: A Practical Guide for Clinical Laboratories Clinical chemistry and laboratory medicine 2020 Significance 6/10 Revogene Strep A Molecular Assay Delivers 98% Sensitivity in Multicenter Evaluation Journal of clinical microbiology 2020 Significance 6/10 COVID-19 Diagnostics: Real-Time PCR and NGS Enable Early Pathogen Detection Clinical microbiology reviews 2020 Significance 6/10 Mass Spectrometry Reveals How Gut Microbial Metabolites Drive Disease Clinical chemistry and laboratory medicine 2020 Significance 6/10 Revogene C. difficile Test Demonstrates 85% Sensitivity for Toxin B Gene Detection in Multicenter Trial Journal of clinical microbiology 2020 Significance 6/10 PharmVar GeneFocus: CYP2D6 Star Allele Nomenclature for the Most-Tested Pharmacogene Clinical pharmacology and therapeutics 2019 Significance 6/10 16-Gene Panel Characterizes Mutational Landscape of Breast Fibroepithelial Lesions in International Cohort The Journal of pathology 2019 Significance 6/10 Metabolomics Enters Clinical Pharmacology: Biomarker Discovery to Drug Response Prediction Clinical pharmacology and therapeutics 2019 Significance 6/10 SR-BI P376L Variant Linked to Dysfunctional HDL and Increased Cardiovascular Risk Clinical biochemistry 2019 Significance 6/10 High-Dose Vitamin C Targets Redox Imbalance, Epigenetics, and Oxygen Sensing in Cancer Nature reviews. Cancer 2019 Significance 6/10 False Positives Plague Widely Used Dientamoeba fragilis PCR Assay Across Multiple Platforms Journal of clinical microbiology 2019 Significance 6/10 Multiplex RT-PCR Distinguishes Wild-Type Measles from Vaccine Strains in a Single Reaction Journal of clinical microbiology 2019 Significance 6/10 Multiplex PCR for Shigella flexneri Serotyping Validated Across Seven International Laboratories Journal of clinical microbiology 2019 Significance 6/10 NeuMoDx GBS Assay Matches CDC Culture Method with 96.9% Sensitivity for Antepartum Screening Journal of clinical microbiology 2019 Significance 6/10 Epilepsy Diagnostics: From EEG to Genomic Testing and Pharmacogenomics Lancet (London, England) 2019 Significance 6/10 Triplex PCR Algorithm Validated for Rapid Bordetella Species Identification in Pediatric Whooping Cough Journal of clinical microbiology 2019 Significance 6/10 Automated Urinalysis Advances: From Flow Cytometry to MALDI-TOF Pathogen ID Annals of laboratory medicine 2019 Significance 6/10 Immunogenomics of Glioblastoma: Molecular Subtyping Reveals Distinct Immune Evasion Mechanisms NPJ precision oncology 2018 Significance 6/10 Whole Exome Sequencing Reveals Wnt Pathway Mutations in Biliary Papillary Neoplasms The American journal of surgical pathology 2018 Significance 6/10 NGS Applications in Biodefense: Biosurveillance, Forensics, and Biothreat Diagnostics Clinical chemistry 2018 Significance 6/10 JAMA Review: Pharmacogenetics Not Yet Ready for Personalizing Alcohol Use Disorder Treatment JAMA 2018 Significance 6/10 Molecular Diagnosis of Bacterial Vaginosis: Objective Testing Beyond Microscopy Journal of clinical microbiology 2018 Significance 6/10 Luminex Aries GBS Assay Achieves 96% Sensitivity with Minimal Hands-On Time Journal of clinical microbiology 2018 Significance 6/10 Multi-Omics Approaches Open New Avenues for Alzheimer's Disease Biomarker Discovery Clinical biochemistry 2018 Significance 6/10 NGS Identifies Recurrent Targetable Mutations in Cervical Small Cell Neuroendocrine Carcinoma The American journal of surgical pathology 2018 Significance 6/10 Experimental Design, Randomisation, and Validation: Foundations for Reliable Biomarker Discovery Clinical chemistry 2018 Significance 6/10 QuantiFERON-CMV Assay Predicts Post-Transplant CMV Infection Risk in Heart Recipients Journal of clinical microbiology 2018 Significance 6/10 cobas Cdiff PCR Validated for Active Surveillance of Asymptomatic C. difficile Carriers Journal of clinical microbiology 2018 Significance 6/10 Pulmonary Arterial Hypertension: Biomarkers from BNP to Molecular Subtypes BMJ (Clinical research ed.) 2018 Significance 6/10 Preemptive Pharmacogenomic Testing Shows Clinical Benefit When Linked to EHR Decision Support Clinical pharmacology and therapeutics 2018 Significance 6/10 Cartridge-Based PCR Achieves 100% Sensitivity for Coccidioides in Lower Respiratory Specimens Journal of clinical microbiology 2018 Significance 6/10 Population Pharmacokinetics of Polymyxin B Characterised by LC-MS/MS Clinical pharmacology and therapeutics 2018 Significance 6/10 Neuropeptides as Biomarkers and Drug Targets in Obesity: From Bench to Bedside Clinical chemistry 2017 Significance 6/10 BD Max Extended Enteric Panel Validated for Yersinia, ETEC, Vibrio, and Plesiomonas Detection in Stool Journal of clinical microbiology 2017 Significance 6/10 Metaplasia as a Precursor to Dysplasia and Cancer: Mechanisms and Screening Implications Nature reviews. Cancer 2017 Significance 6/10 Hypothesis-Free Molecular Microbiology: The Case for a Universal Sequencing-Based Diagnostic Test Journal of clinical microbiology 2017 Significance 6/10 Genotyping Strategies for Medically Important Fungi: MLST, Microsatellites, and NGS Clinical microbiology reviews 2017 Significance 6/10 GBS Detection Modernised With MALDI-TOF, Molecular Assays, and Chromogenic Media Journal of clinical microbiology 2017 Significance 6/10 Quality Control Materials for Pharmacogenomic Testing: Current Sources and Future Needs Clinical chemistry and laboratory medicine 2017 Significance 6/10 Response-Tailored HCV Treatment Using On-Treatment PCR Monitoring Proves Non-Inferior to Fixed 12-Week Course EBioMedicine 2017 Significance 6/10 miRNA Assays for Clinical Diagnostics: Detection Technologies, Workflows, and Automation Clinical chemistry and laboratory medicine 2017 Significance 6/10 Biological Age Predictors: Epigenetic Clocks Lead the Multi-Omics Race EBioMedicine 2017 Significance 6/10 Cortisol Measurement Across Matrices: Immunoassay Limitations and the LC-MS/MS Advantage Annals of clinical biochemistry 2017 Significance 6/10 Toxoplasma ELITe MGB Commercial PCR Kit Shows 89% Sensitivity but Extraction Method Matters Journal of clinical microbiology 2017 Significance 6/10 LINE-1 Retrotransposon as an Emerging Cancer Biomarker: Methylation, RNA, and Protein Markers Clinical chemistry 2017 Significance 6/10 Roche HCV RNA Assays on cobas 6800/8800 Show Excellent Sensitivity and Cross-Platform Agreement Journal of clinical microbiology 2017 Significance 6/10 Ciliopathies Reclassified: From Clinical Syndromes to Functional Modules of the Cilium The Journal of pathology 2017 Significance 6/10 SYBR Green qPCR on Noninvasive Swabs Matches Biopsy Accuracy for Leishmaniasis Diagnosis Journal of clinical microbiology 2016 Significance 6/10 NGS Uncovers New Pathogenic Mechanisms in Tuberous Sclerosis Complex Tumours The Journal of pathology 2016 Significance 6/10 Pharmacogenomics of Cardiovascular Drugs: Statins, P2Y12 Inhibitors, and Anticoagulants Clinical chemistry 2016 Significance 6/10 BD Max Enteric Parasite PCR Panel Matches or Exceeds Microscopy for Giardia, Crypto, and Entamoeba Journal of clinical microbiology 2016 Significance 6/10 Persistent Diarrhoea: How Multiplex PCR Is Changing Diagnostic Workup JAMA 2016 Significance 6/10 Real-Time PCR with High-Resolution Melting Detects Gonorrhoea Resistance Markers in 90 Minutes Journal of clinical microbiology 2016 Significance 6/10 Dried Blood Spot Analysis by Mass Spectrometry for Therapeutic Drug Monitoring Clinical biochemistry 2016 Significance 6/10 Personalised Thrombosis Medicine: Genomics Has Not Yet Replaced Functional Coagulation Testing Blood 2016 Significance 6/10 Consolidating Antibiotic Resistance Gene Databases for Clinical Microbiology Journal of clinical microbiology 2016 Significance 6/10 Ion Mobility Spectrometry Emerges as Rapid Bedside Screening Tool for Clinical Labs Clinical chemistry 2015 Significance 6/10 Mass Spectrometry of Exhaled Breath Nonvolatiles: An Emerging Biomarker Source Clinical chemistry 2015 Significance 6/10 Mass Spectrometry as a Phenotypic Complement to Pharmacogenomics in Precision Medicine Clinical chemistry 2015 Significance 6/10 Mass Spectrometry Delivers Cost-Effective Solutions Across Expanding Clinical Applications Clinical chemistry 2015 Significance 6/10 Ambient Ionization Mass Spectrometry Targets Point-of-Care Diagnostics Clinical chemistry 2015 Significance 6/10 Single-Dose Lysergide (MM120) Shows Dose-Dependent Anxiety Reduction in GAD Trial JAMA 2025 Significance 5/10 Advancing Anaerobic Microbial Cultivation to Complement NGS-Based Microbiome Research Nature biotechnology 2025 Significance 5/10 PharmVar Defines 14 Novel CYP4F2 Star Alleles Affecting Warfarin and Vitamin K Metabolism Clinical pharmacology and therapeutics 2024 Significance 5/10 EWSR1::NFATC2 Round Cell Sarcoma: A Four-Case Series Supports Classification as a Distinct Entity Diagnostic pathology 2024 Significance 5/10 Phase III MDMA-Assisted Therapy Shows Significant PTSD Symptom Reduction Nature medicine 2023 Significance 5/10 Hypertriglyceridaemia: Genetic Diagnosis and the Role of NGS in Lipid Disorders Journal of clinical pathology 2022 Significance 5/10 PharmVar Updates CYP3A5 Nomenclature for Tacrolimus Dose Optimisation Clinical pharmacology and therapeutics 2022 Significance 5/10 Idiotype Vaccine Plus Adoptive T-Cell Transfer Shows Enhanced Immune Reconstitution in Myeloma Blood 2022 Significance 5/10 Sublingual Dexmedetomidine Rapidly Reduces Acute Agitation in Bipolar Disorder JAMA 2022 Significance 5/10 Mendelian Randomisation Links Kidney Damage to Brain Cortical Thinning EBioMedicine 2021 Significance 5/10 MDMA-Assisted Therapy for PTSD: Phase 3 Trial and Implications for Drug Testing Laboratories Nature medicine 2021 Significance 5/10 PharmVar Catalogues CYP2B6 Variation Impacting Efavirenz, Methadone, and Ketamine Clinical pharmacology and therapeutics 2021 Significance 5/10 Historical Controls in Clinical Trials: Promise and Pharmacogenomic Pitfalls Clinical pharmacology and therapeutics 2020 Significance 5/10 Favipiravir Pharmacokinetics and Drug Interaction Concerns for COVID-19 Trials Clinical pharmacology and therapeutics 2020 Significance 5/10 Real-Time PCR for Tuberculous Meningitis: High Specificity but Limited Sensitivity in CSF Clinical chemistry and laboratory medicine 2019 Significance 5/10 Best Practices for Reporting Pharmacogenomics Studies: A PharmGKB Perspective Clinical pharmacology and therapeutics 2019 Significance 5/10 Neuregulin-1 mRNA Levels Downregulated in Autism Spectrum Disorder and Linked to Executive Function Deficits EBioMedicine 2018 Significance 5/10 HIV-TB Coinfection in Children and Pregnant Women: Pharmacogenomic and Drug Interaction Challenges Clinical pharmacology and therapeutics 2018 Significance 5/10 Subpopulation Primer Strategy Achieves Exhaustive H5 Avian Influenza Detection by LAMP Journal of clinical microbiology 2018 Significance 5/10 Rickettsioses Diagnostics Evolve Beyond Serology With Molecular and MS-Based Methods Journal of clinical microbiology 2018 Significance 5/10 Genetic Counseling Faces New Complexity in the NGS Era Annals of laboratory medicine 2018 Significance 5/10 SMART Therapy Reduces Asthma Exacerbations: Systematic Review and Meta-Analysis JAMA 2018 Significance 5/10 Nocardia Identification Challenges: Taxonomy Complexity Demands Molecular Methods Journal of clinical microbiology 2017 Significance 5/10 NGS Reveals Recurrent MED12 Mutations in Breast Fibroadenomas, Aiding Phyllodes Tumor Distinction Journal of clinical pathology 2017 Significance 5/10 Biochemistry of the Menopause: Diagnostic Assays and Hormone Reference Intervals Annals of clinical biochemistry 2017 Significance 5/10 Measuring Vitamin K in Blood: HPLC and LC-MS/MS Methods Compared Clinical chemistry and laboratory medicine 2017 Significance 5/10 Novel Multiplex PCR Enables Rapid Screening for Multidrug-Resistant E. coli ST648 Journal of clinical microbiology 2017 Significance 5/10 BD Max Open System Validated for Multiplex Mycobacterial Detection Directly from Clinical Specimens Journal of clinical microbiology 2016 Significance 5/10 Home-Based Transcranial Direct Current Stimulation Shows Efficacy in Major Depression Trial Nature medicine 2024 Significance 4/10 NEJM Review: Neuroleptic Malignant Syndrome Diagnosis and Management The New England journal of medicine 2024 Significance 4/10 Network Meta-Analysis: High-Dose Psilocybin Outperforms Placebo for Depression, But Effect Is Small BMJ (Clinical research ed.) 2024 Significance 4/10 PharmVar GeneFocus: CYP2A6 Nomenclature for Nicotine Metabolism and Drug Interactions Clinical pharmacology and therapeutics 2024 Significance 4/10 Persistent Physical Symptoms: Biomarker Gaps in Somatic Symptom Disorders Lancet (London, England) 2024 Significance 4/10 Behcet's Syndrome: Diagnostic Challenges Without Pathognomonic Biomarkers Lancet (London, England) 2024 Significance 4/10 Schizophrenia: Neuroimaging and Biomarker Challenges in Psychiatric Diagnosis Lancet (London, England) 2022 Significance 4/10 Novel HK1 Variant Identified as Cause of Hereditary Hemolytic Anemia via Whole-Exome Sequencing Journal of clinical pathology 2020 Significance 4/10 First Reported Primary Adenocarcinoma of the Spermatic Cord with SMARCB1 Deficiency Diagnostic pathology 2024 Significance 3/10 First TP53-Mutant Low-Grade Papillary Schneiderian Carcinoma Documented Without DEK::AFF2 Fusion Diagnostic pathology 2023 Significance 3/10 Anxiety Disorders: The Search for Objective Diagnostic Biomarkers Lancet (London, England) 2021 Significance 3/10