Expert Review of Molecular Diagnostics

Article	Citations
Harnessing the potential of genomic characterization of mutational profiles to improve early diagnosis of lung cancer	97
Cost analyses for malaria molecular diagnosis for research planners in India and beyond	60
Molecular point-of-care testing in the community pharmacy setting: current status and future prospects	55
Mild behavioral impairment and neurodegeneration: time for a biomarker-based assessment	53
Clinicopathological, etiological and molecular characteristics of intrahepatic cholangiocarcinoma subtypes classified by mucin production and immunohistochemical features	47
Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer	36
Evaluating tumor cell- and T cell-derived extracellular vesicles as potential biomarkers of cancer and immune cell competence	36
Evolution and future of cervical cancer screening: from cytology to primary HPV testing and the impact of vaccination	33
Recent updates in the development of molecular assays for the rapid identification and susceptibility testing of MRSA	33
What makes a « good » companion diagnostic in thoracic oncology?	32
Functional proteomic analysis, a missing piece for understanding clonal evolution and cooperation in the tissue microecology	31
Unlocking the power of biomarkers: transforming the diagnosis of acute respiratory distress syndrome	30
Evaluating emerging molecular diagnostics for severe infections in neutropenic patients with hematological malignancies	28
A novel anoikis-related signature predicts prognosis risk and treatment responsiveness in diffuse large B-cell lymphoma	28
The MALAT1-breast cancer interplay: insights and implications	26
Diagnosing thrombophilia: the case for genetic or functional testing?	25
Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma	25
Noncoding RNAs as a potential biomarker for the prognosis of bladder cancer: a systematic review and meta-analysis	24
CRISPR-Cas system: recent advancements in prompt diagnosis of high-risk HPV genotypes in cervical cancer	23
Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma	23
Genetic risk and gastric cancer: polygenic risk scores in population-based case-control study	22
How mitochondrial DNA complicates pre-implantation genetic screening and management	22
Navigating PD-L1 testing in immuno-oncology: analytical robustness, clinical validation, and the role of the VENTANA SP263 assay	21
Emerging concepts in the detection of liver fibrosis in non-alcoholic fatty liver disease	21
Bacterial extracellular vesicles in biofluids as potential diagnostic biomarkers	20

Can multiplex molecular panels of microbial pathogens transform respiratory care in critically ill patients?	20
Clinical application of noninvasive prenatal testing in twin pregnancies: a single-center experience	20
The promise of liquid biopsies in prostate cancer: a potential point-of-care modality for precision oncology	20
Cell avidity in CAR-T cell therapy	19
Protein signatures for the early detection of endometrial cancer in cervico-vaginal fluid	19
Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models	19
The clinical importance of high-sensitivity cardiac troponin measurements for risk prediction in non-cardiac surgery	19
Optimization of time interval for the measurement of plasma lipids for cardiovascular disease risk assessment	18
The integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome	18
Molecular predictors of metastasis in patients with prostate cancer	18
Molecular diagnostic criteria of myeloproliferative neoplasms	17
LncRNA NR2F1-AS1 as a potential biomarker for prognosis in cancer patients: meta and bioinformatics analysis	17
α-synuclein PET imaging: early human evidence and the path toward clinical proof-of-concept	17
Efficient screening strategies for severe combined immunodeficiencies in newborns	16
Patient outcomes improve when a molecular signature test guides treatment decision-making in rheumatoid arthritis	16
Comprehensive genomic profiling: a public health system perspective	15
The challenges and potential in developing microRNA associated with regeneration as biomarkers to improve prognostication for liver failure syndromes and hepatocellular carcinoma	15
Genomic determinants of biological aggressiveness and poor prognosis of pancreatic cancers: KRAS and beyond	15
Point-of-care isothermal nucleic acid amplification tests: progress and bottlenecks for extraction-free sample collection and preparation	14
Regulation of biomarker analysis: what can be translated in the clinic?	14
Discovery of potential biomarkers for osteoporosis diagnosis by individual omics and multi-omics technologies	14
The association between normalized creatinine-to-cystatin C ratio and incident circadian syndrome in middle-aged and older adults: a national cohort study	14
Genomic profiling as an option for ovarian cancer diagnostics	13
Extracellular vesicles as source of biomarkers in hematological malignancies: looking towards clinical applications	13
Biomarkers of sleep-wake disturbance as predictors of cognitive decline and accelerated disease progression	13
Analytical validation of urine ALCAM ELISA as a test for lupus nephritis	13
KIM-1 and beyond: emerging biomarkers for adjuvant immunotherapy in clear cell renal cell carcinoma	13
Association between polymorphisms in TLR3 , TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil	13
Extracellular vesicles as diagnostic and prognostic biomarkers in non-small cell lung cancer	13
Molecular deciphering of melanoma: advances and challenges of neoadjuvant and perioperative treatment	13
Urinary biomarkers for immunotherapy response in urothelial carcinoma: current status and future outlook	12
Cystic echinococcosis microRNAs as potential noninvasive biomarkers: current insights and upcoming perspective	12
Early diagnostics of fibromyalgia: an overview of the challenges and opportunities	12
Cytokines as biomarkers of Huntington’s disease progression	12
Association betweenCDH1methylation and esophageal cancer risk: a meta-analysis and bioinformatics study	11
The dark side of lipid metabolism in prostate and renal carcinoma: novel insights into molecular diagnostic and biomarker discovery	11
Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations	11
Guarding the genome: strategies for off-target detection and minimization in CRISPR/Cas9 system	11
Challenges associated with using extracellular vesicles as biomarkers in neurodegenerative disease	11
Lessons from the pandemic: new best practices in selecting molecular diagnostics for point-of-care testing of infectious diseases in sub-Saharan Africa	11
An update on utilising brain natriuretic peptide for risk stratification, monitoring and guiding therapy in heart failure	11
Decoding pancreatic cancer: key risk factors across genetics and lifestyle	10
Unraveling the future: hot topics shaping molecular diagnostics today	10
Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes	10
Prognostic biomarkers in melanoma: a 2023 update from clinical trials in different therapeutic scenarios	10
Diagnosing, treating and monitoring the inflammatory endotype in osteoarthritis clinical trials	10
MicroRNA dysregulation in schistosomiasis-induced hepatic fibrosis: a systematic review	10
Diagnostic approaches for dengue infection	10
Bacterial respiratory infections in children: advances in diagnostic strategies	9
Potential use of heat shock protein 90 as a biomarker for the diagnosis of human diseases	9

Role of liquid biopsy in genitourinary (GU) cancers	9
Current and emerging technologies to develop Point-of-Care Diagnostics in medical mycology	9
Potential role of circulating miR-21 in the diagnosis of hepatocellular carcinoma: a systematic review and meta-analysis	9
Implications of TERT promoter mutations and telomerase activity in solid tumors with a focus on genitourinary cancers	9
Comparative review of diagnostic techniques for DNA methylation analysis	9
COVID-19 diagnosis: lessons to learn and hints for preparedness	9
The association between blood sodium levels and survival in patients treated with immune checkpoint inhibitors	9
Transforming breast cancer care: the critical role of digital pathology and artificial intelligence in biomarker testing and risk stratification	9
hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy	9
From detection to action: new diagnostic insights into antifungal resistance	9
Molecular determination of insect venom allergies	8
Advances in pediatric sepsis biomarkers - what have we learnt so far?	8
Highlighting and addressing barriers to widespread adaptation of HIV self-testing in the United States	8
How our molecular understanding of the pathogenesis of Mycobacterium ulcerans infection can improve diagnosis of Buruli ulcer	8
Global polymorphism of Plasmodium falciparum histidine rich proteins 2/3 and impact on malaria rapid diagnostic test detection: a systematic review and meta-analysis	8
Challenges facing genetic diagnostics of Huntington’s disease: an update	8
Development and validation of a nomogram for the prediction of metabolic syndrome in polycystic ovary syndrome in a Chinese population	8
Association between NUDT17 polymorphisms and breast cancer risk	8
JC polyomavirus: a short review of its biology, its association with progressive multifocal leukoencephalopathy, and the diagnostic value of different methods to manifest its activity or presence	8
Exploring non-sputum biosignatures for tuberculosis triage and diagnosis in children living with HIV	8
Recent developments in wearable & non-wearable point-of-care biosensors for cortisol detection	8
Noninvasive prenatal screening in southeast China: clinical application and accuracy evaluation	8
The role of fecal biomarkers in individuals with inflammatory bowel disease	8
Variants of KLF5 and KLF12 were related to endometrial cancer risk in the Chinese population	8
Saliva-based Hormone Diagnostics: advances, applications, and future perspectives	8
Liquid biopsy in meningioma: a meta-analysis of diagnostic accuracy across fluid-based biomarkers	7
Saliva liquid biopsy for detection of early-stage lesions	7
Diagnostic and predictive value of liquid biopsy-derived exosome miR-21 for breast cancer: a systematic review and meta-analysis	7
CD44v6 acts as a directional responding factor in the process of transcoelomic metastasis from gastric carcinoma to Krukenberg tumor	7
Cross-sectional risk models using quantitative fecal hemoglobin in colorectal cancer screening: a systematic review	7
One biomarker does not fit all: tailoring anti-infective therapy through utilization of procalcitonin and other specific biomarkers	7
The status of standardization in methodologies for tear fluid biomarkers	7
Validating blood tests as a possible routine diagnostic assay of Alzheimer’s disease	7
How reliable are polygenic risk scores for risk prediction in patients with heart disease?	7
Point-of-care urine tenofovir monitoring of adherence to drive interventions for HIV treatment and prevention	7
Combining oral fluid aMMP-8, calprotectin, and CCAAs in dental panoramic radiography for periodontal disease and systemic disease risk assessment: a point-of-care diagnostic approach	7
What are the diagnostic capabilities of glycans for breast cancer?	7
Blood-based biomarkers of chronic inflammation	7
Liquid biopsy for biliary tract cancer: available evidence and future research directions	7
Statistical determination of cancer biomarkers: moving forward clinically	7
Towards improved point-of-care (POC) testing for patients with suspected sepsis: POC tests for host biomarkers and possible microbial pathogens	7
MicroRnas in preeclampsia	6
Next-generation sequencing for laboratory diagnosis of infectious diseases	6
Translation of scRNA-seq to a clinical blood test for infection diagnostics	6
PCR diagnostic platforms for non- Aspergillus mold infections: ready for routine implementation in the clinic?	6
Smartphone and wearable diagnostics	6
Development and validation of a ligand–receptor pairs signature to predict outcome and provide a therapeutic strategy in gastric cancer	6
An update on current and novel molecular diagnostics for the diagnosis of invasive fungal infections	6
Low-cost molecular methodology for blood group antigens identification and genotyping contribution to transfusion efficacy in multiple transfused patients	6
Identification of novel biomarkers in renal cell carcinoma	6
TRIB3 overexpression predicts malignant progression and poor prognosis in human solid tumors: bioinformatics validation and clinical significance	6
Role of oral microbiome in modulating immune response in oral cancer development. a systematic review	6
Detection of lung cancer and stages via breath analysis using a self-made electronic nose device	6
Neuro-axonal injury biomarker serum neurofilament light chain is associated with osteoarthritis: a dual-cohort study from NHANES and UK Biobank	6
RT-LAMP in SARS-CoV-2 detection: point to improve primer designing and decrease molecular diagnosis pitfalls	6
Integrating epigenetic and immune biomarkers to enable dynamic precision therapy in triple-negative breast cancer	6
A charming molecular profile in the wrong tissue: the pathologist in the era of molecular diagnostics in the gastrointestinal tract	6
Dual-energy spectral CT in renal cell carcinoma: dawn of a brand-new era?	6
Exploring the prognostic and predictive potential of bacterial biomarkers in non-gastrointestinal solid tumors	6
Correlation between lipoprotein-associated phospholipase A2 and poststroke mild cognitive impairment	6
Fusion genes in precision oncology: prostate cancer as a diagnostic case study	6
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity	6
Advances in ovarian cancer screening and early detection: from biomarkers to multivariate index assays	6
Strengths and limitations of molecular diagnostics for Pneumocystis jirovecii pneumonia	5
The use of metagenomics to enhance diagnosis of encephalitis	5
Promising biomarkers of Kawasaki disease: markers that aid in diagnosis	5
Borderline SARS-CoV-2 patients: the trace behind	5
The tumor immune microenvironment in pancreatic cancer and its potential in the identification of immunotherapy biomarkers	5
Challenges in diagnosing hydatidiform moles: a review of promising molecular biomarkers	5
Circulating tumor DNA and urinary tumor DNA: useful biomarkers for bladder cancer detection	5
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications	5
Emerging role of transfer RNA-derived small RNAs (tsRNAs) in hepatocellular carcinoma	5
Peripheral blood biomarkers in monitoring treatment response in breast cancer patients	5
Diagnostic accuracy of clinically applied nanoparticle-based biosensors at detecting SARS-CoV-2 RNA and surface proteins in pharyngeal swabs compared to RT-PCR as a reference test	5
Screening for oropharyngeal cancer: the time is now	5
Diagnostic accuracy of serum derived exosomes for hepatocellular carcinoma: a systematic review and meta-analysis	5
The biomolecular corona of extracellular nanoparticles holds new promises for advancing clinical molecular diagnostics	5
Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices	5
Association between the APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), and MMP1 (rs1799750) gene polymorphisms and lipodystrophy in people living with HIV receiving antiretroviral therapy	5
Diagnostic accuracy of circulating-free DNA for the determination of hepatocellular carcinoma: a systematic review and meta-analysis	5

Evaluation of ctDNA-based ESR1 testing in breast cancer: results from the first external quality assessment scheme in China	5
Detecting glycoproteins predictors of traumatic brain injury	5
A sandwich chemiluminescent magnetic microparticle immunoassay for cryptococcal antigen detection	5
We have reached single-visit testing, diagnosis, and treatment for hepatitis C infection, now what?	5
The potency of cell-based assays to predict response to TNF inhibitor therapy	4
Clinical value of identifying genes that inhibit hepatocellular carcinomas	4
Applications of ctDNA testing to monitor and detect residual disease in breast cancer	4
Are we closer to robust predictors of recurrent pregnancy loss by means of integrating different types of omics data?	4
How can we improve the successful identification of patients suitable for CAR-T cell therapy?	4
[ 68 Ga]PSMA-11 for positron emission tomography (PET) imaging of prostate-specific membrane antigen (PSMA)-positive lesions in men with prostate cancer	4
Promotor methylation in ocular surface squamous neoplasia development: epigenetics implications in molecular diagnosis	4
Clinical utilization of airway inflammatory biomarkers in the prediction and monitoring of clinical outcomes in patients with chronic obstructive pulmonary disease	4
Blood soluble Fas concentrations and ischemic stroke patient mortality	4
Advances in RT-LAMP for COVID-19 testing and diagnosis	4
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms	4
Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine	4
Evaluation of transcriptomic molecular classification, biological behavior, and clinicopathological features in hepatocellular carcinoma	4
The emerging role of liquid biopsy in oral squamous cell carcinoma detection: advantages and challenges	4
Smaller, cheaper, faster: where next for liquid biopsies?	4
Explainable epigenetic aging clocks: an overview of existing AI models and approaches	4
Gastrin-releasing peptide receptor agonists and antagonists for molecular imaging of breast and prostate cancer: from pre-clinical studies to translational perspectives	4
Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction – focus on large B–cell lymphomas and follicular lymphomas	4
Research advancement in fluid biomarkers for Parkinson’s disease	4
Primary open-angle glaucoma: a perspective from plasma metabolomics	4
Next generation immuno-oncology biomarkers in gastrointestinal cancer: what does the future hold?	4
Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics	4
Bio-interfaces-based detection of gastric carcinogenic bacterium Helicobacter pylori : enabling early and high precision diagnosis	4
Diagnosis and management of invasive fungal diseases by next-generation sequencing: are we there yet?	4
Comet-FISH analysis of urothelial cells. A screening opportunity for bladder cancer?	4
Research tests for the diagnosis of tuberculosis infection	4
Gestational trophoblastic disease: STR genotyping for precision diagnosis	4
Human papillomavirus viral load as promising surrogate biomarker of cervical cancer risk and clinical outcome	4
Beyond the laboratory: how COVID-19 reshaped specimen collection, testing workflows, and diagnostic algorithms	4
A profile on the Truenat assays for the detection of pulmonary tuberculosis and rifampicin resistance	4
Genetic variant in LncRNA-NKILA associated with gastric cancer susceptibility and the binding with miR-6731-5p	4
Paving the way for quality assured, decentralised point-of-care testing for infectious disease in primary care - Real world lessons from remote Australia	4
Breathomics: a non-invasive approach for the diagnosis of liver disease	3
Virtual tissue staining in pathology using machine learning	3
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis	3
Updates in diagnosing polycystic ovary syndrome-related infertility	3
Overview of point-of-care diagnostic options for detection of chlamydia trachomatis : current technology and implementation considerations	3
Correction	3
AI and the digital pathology revolution: clinical applications in cancer diagnosis and assessment	3
Identifying sex-specific biomarkers for intrinsic capacity decline in the aging population	3
Radiomics and theranostics with molecular and metabolic probes in prostate cancer: toward a personalized approach	3
Homologous recombination deficiency: a reliable biomarker or a misleading indicator?	3
Biomarkers of treatment response in bladder cancer	3
Body fluid markers for multiple sclerosis and differential diagnosis from atypical demyelinating disorders	3
A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma	3
Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging	3
Point-of-care testing for viral-associated pulmonary aspergillosis	3
Serum Sema7A is increased in patients with acute aortic dissection	3
The diagnosis of Huntington’s disease by different molecular tools: a systematic review	3
Molecular biomarkers of blunt cardiac injury: recent advances and future perspectives	3
Emerging prognostic biomarkers in advanced cutaneous melanoma: a literature update	3
Molecular biomarkers of diffuse axonal injury: recent advances and future perspectives	3
Beyond mutations: epigenetic and fragmentomic landscapes of cfDNA in lung cancer	3
A stroll through the present and future of testicular germ cell tumour biomarkers	3
Pathology-supported genetic testing for the application of breast cancer pharmacodiagnostics: family counselling, lifestyle adjustments and change of medication	3
An evaluation of the AggreGuide A-100 ADP Assay for measuring the effect of antiplatelet agents targeting the P2Y12 receptor	3
Diagnostics and novel laboratory approaches to combat Neisseria gonorrhoeae antimicrobial resistance	3
Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis	3
Technical aspects of loop‐mediated isothermal amplification (LAMP) assay in cancer	3
Advances in molecular diagnostic strategies during the SARS-CoV-2 pandemic	3
Implementing Individualized quality control plans and managing risk at the point-of-care for molecular diagnostics	3
A review of the value of point-of-care testing for community-acquired pneumonia	3
Association between the first and second trimester cell free DNA fetal fraction and spontaneous preterm birth	3
Serum Fas levels during first week of sepsis are associated with severity and mortality	3
Current status of diagnostic assays for emerging zoonotic viruses: Nipah and Hendra	3
Advancements in protein glycosylation biomarkers for ovarian cancer through mass spectrometry-based approaches	3
A comprehensive understanding of HDL-associated apolipoproteins: future potential biomarker in sepsis	3
Clinical utility of blood-based biomarkers in pregnant women with inflammatory bowel disease	3
Sample-to-result molecular diagnostic platforms and their suitability for infectious disease testing in low- and middle-income countries	3
The game changer: UCH-L1 and GFAP-based blood test as the first marketed in vitro diagnostic test for mild traumatic brain injury	3
Fluid biomarkers in cerebral amyloid angiopathy: current limitations and future directions	3