Expert Review of Molecular Diagnostics

Article	Citations
Harnessing the potential of genomic characterization of mutational profiles to improve early diagnosis of lung cancer	104
What makes a « good » companion diagnostic in thoracic oncology?	82
Molecular point-of-care testing in the community pharmacy setting: current status and future prospects	69
Cancer cell-derived extracellular vesicles activate hepatic stellate cells in colorectal cancer	55
Alzheimer’s disease: a scoping review of biomarker research and development for effective disease diagnosis	48
Polygenic and Network-based studies in risk identification and demystification of cancer	41
Clinicopathological, etiological and molecular characteristics of intrahepatic cholangiocarcinoma subtypes classified by mucin production and immunohistochemical features	38
Mild behavioral impairment and neurodegeneration: time for a biomarker-based assessment	35
Recent updates in the development of molecular assays for the rapid identification and susceptibility testing of MRSA	35
Cost analyses for malaria molecular diagnosis for research planners in India and beyond	33
Evolution and future of cervical cancer screening: from cytology to primary HPV testing and the impact of vaccination	32
Retrospective analysis of the risk factors associated with failure in obtaining effective noninvasive prenatal test results and pregnancy outcomes: a case-control study	32
Evaluating tumor cell- and T cell-derived extracellular vesicles as potential biomarkers of cancer and immune cell competence	32
Metabolic profile of the Warburg effect as a tool for molecular prognosis and diagnosis of cancer	31
Nuclease activity: an exploitable biomarker in bacterial infections	31
Unlocking the power of biomarkers: transforming the diagnosis of acute respiratory distress syndrome	30
Functional proteomic analysis, a missing piece for understanding clonal evolution and cooperation in the tissue microecology	28
RAD51 as a functional biomarker for homologous recombination deficiency in cancer: a promising addition to the HRD toolbox?	27
A novel anoikis-related signature predicts prognosis risk and treatment responsiveness in diffuse large B-cell lymphoma	25
Diagnostic approach to leptomeningeal involvement in diffuse large B-cell lymphoma	25
Diagnosing thrombophilia: the case for genetic or functional testing?	24
The MALAT1-breast cancer interplay: insights and implications	23
Genetic risk and gastric cancer: polygenic risk scores in population-based case-control study	22
Clinical application of noninvasive prenatal testing in twin pregnancies: a single-center experience	22
Emerging concepts in the detection of liver fibrosis in non-alcoholic fatty liver disease	21

Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma	21
How mitochondrial DNA complicates pre-implantation genetic screening and management	19
Neuroimaging with PET/CT in chronic traumatic encephalopathy: what nuclear medicine can do to move the field forward	19
Early Identification of Fungal and Mycobacterium Infections in Pulmonary Granulomas Using Metagenomic Next-Generation Sequencing on Formalin fixation and paraffin embedding tissue	18
Bacterial extracellular vesicles in biofluids as potential diagnostic biomarkers	18
Predictive biomarkers of response to immune checkpoint inhibitors in hepatocellular carcinoma	18
Can multiplex molecular panels of microbial pathogens transform respiratory care in critically ill patients?	18
Noncoding RNAs as a potential biomarker for the prognosis of bladder cancer: a systematic review and meta-analysis	18
The promise of liquid biopsies in prostate cancer: a potential point-of-care modality for precision oncology	17
The clinical importance of high-sensitivity cardiac troponin measurements for risk prediction in non-cardiac surgery	17
Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models	17
Molecular predictors of metastasis in patients with prostate cancer	17
Cell avidity in CAR-T cell therapy	17
LncRNA NR2F1-AS1 as a potential biomarker for prognosis in cancer patients: meta and bioinformatics analysis	16
Discovery of potential biomarkers for osteoporosis diagnosis by individual omics and multi-omics technologies	16
The challenges and potential in developing microRNA associated with regeneration as biomarkers to improve prognostication for liver failure syndromes and hepatocellular carcinoma	16
Optimization of time interval for the measurement of plasma lipids for cardiovascular disease risk assessment	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
Genomic determinants of biological aggressiveness and poor prognosis of pancreatic cancers: KRAS and beyond	14
Efficient screening strategies for severe combined immunodeficiencies in newborns	14
Molecular diagnostic criteria of myeloproliferative neoplasms	14
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?	13
The integration of biomarkers and patient-reported outcomes improves prediction of interstitial cystitis syndrome	13
Extracellular vesicles as source of biomarkers in hematological malignancies: looking towards clinical applications	12
Analytical validation of urine ALCAM ELISA as a test for lupus nephritis	12
Cytokines as biomarkers of Huntington’s disease progression	12
Early diagnostics of fibromyalgia: an overview of the challenges and opportunities	12
Challenges associated with using extracellular vesicles as biomarkers in neurodegenerative disease	12
Molecular deciphering of melanoma: advances and challenges of neoadjuvant and perioperative treatment	12
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis	12
Association between polymorphisms in TLR3 , TICAM1 and IFNA1 genes and covid-19 severity in Southern Brazil	12
An update on utilising brain natriuretic peptide for risk stratification, monitoring and guiding therapy in heart failure	12
Biomarkers of sleep-wake disturbance as predictors of cognitive decline and accelerated disease progression	12
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
Faster infection diagnostics for intensive care unit (ICU) patients	12
Diagnosing, treating and monitoring the inflammatory endotype in osteoarthritis clinical trials	11
Prognostic biomarkers in melanoma: a 2023 update from clinical trials in different therapeutic scenarios	11
Intraoperative detection of axillary metastasis of breast cancer using nucleic acid amplification methods: review of advantages and limitations	11
Decoding pancreatic cancer: key risk factors across genetics and lifestyle	11
Association betweenCDH1methylation and esophageal cancer risk: a meta-analysis and bioinformatics study	11
Guarding the genome: strategies for off-target detection and minimization in CRISPR/Cas9 system	10
Lessons from the pandemic: new best practices in selecting molecular diagnostics for point-of-care testing of infectious diseases in sub-Saharan Africa	10
hTERT rs2735940 polymorphism influences lung cancer risk and overall survival in lung cancer patients undergoing platinum-based doublet chemotherapy	10
Current and emerging technologies to develop Point-of-Care Diagnostics in medical mycology	10
Diagnostic approaches for dengue infection	10
From detection to action: new diagnostic insights into antifungal resistance	10
MicroRNA dysregulation in schistosomiasis-induced hepatic fibrosis: a systematic review	10

Unraveling the future: hot topics shaping molecular diagnostics today	10
The dark side of lipid metabolism in prostate and renal carcinoma: novel insights into molecular diagnostic and biomarker discovery	10
Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes	10
The role of fecal biomarkers in individuals with inflammatory bowel disease	9
Potential role of circulating miR-21 in the diagnosis of hepatocellular carcinoma: a systematic review and meta-analysis	9
Noninvasive prenatal screening in southeast China: clinical application and accuracy evaluation	9
Implications of TERT promoter mutations and telomerase activity in solid tumors with a focus on genitourinary cancers	9
The association between blood sodium levels and survival in patients treated with immune checkpoint inhibitors	9
Association between NUDT17 polymorphisms and breast cancer risk	9
COVID-19 diagnosis: lessons to learn and hints for preparedness	9
Molecular determination of insect venom allergies	8
Potential use of heat shock protein 90 as a biomarker for the diagnosis of human diseases	8
Recent developments in wearable & non-wearable point-of-care biosensors for cortisol detection	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
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
How our molecular understanding of the pathogenesis of Mycobacterium ulcerans infection can improve diagnosis of Buruli ulcer	8
Neuroimaging in hereditary spastic paraplegias: from qualitative cues to precision biomarkers	8
Statistical determination of cancer biomarkers: moving forward clinically	8
Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer	8
Advances in pediatric sepsis biomarkers - what have we learnt so far?	8
Development and validation of a nomogram for the prediction of metabolic syndrome in polycystic ovary syndrome in a Chinese population	8
Highlighting and addressing barriers to widespread adaptation of HIV self-testing in the United States	8
Variants of KLF5 and KLF12 were related to endometrial cancer risk in the Chinese population	8
Exploring non-sputum biosignatures for tuberculosis triage and diagnosis in children living with HIV	7
Saliva-based Hormone Diagnostics: advances, applications, and future perspectives	7
Liquid biopsy in meningioma: a meta-analysis of diagnostic accuracy across fluid-based biomarkers	7
Towards improved point-of-care (POC) testing for patients with suspected sepsis: POC tests for host biomarkers and possible microbial pathogens	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
Cross-sectional risk models using quantitative fecal hemoglobin in colorectal cancer screening: a systematic review	7
What are the diagnostic capabilities of glycans for breast cancer?	7
CD44v6 acts as a directional responding factor in the process of transcoelomic metastasis from gastric carcinoma to Krukenberg tumor	7
One biomarker does not fit all: tailoring anti-infective therapy through utilization of procalcitonin and other specific biomarkers	7
Point-of-care urine tenofovir monitoring of adherence to drive interventions for HIV treatment and prevention	7
Dual-energy spectral CT in renal cell carcinoma: dawn of a brand-new era?	7
How reliable are polygenic risk scores for risk prediction in patients with heart disease?	7
The status of standardization in methodologies for tear fluid biomarkers	6
Validating blood tests as a possible routine diagnostic assay of Alzheimer’s disease	6
Saliva liquid biopsy for detection of early-stage lesions	6
Correlation between lipoprotein-associated phospholipase A2 and poststroke mild cognitive impairment	6
Smartphone and wearable diagnostics	6
Loop-mediated isothermal amplification for Candida species surveillance in under-resourced setting: a review of evidence	6
Blood-based biomarkers of chronic inflammation	6
PCR diagnostic platforms for non- Aspergillus mold infections: ready for routine implementation in the clinic?	6
TRIB3 overexpression predicts malignant progression and poor prognosis in human solid tumors: bioinformatics validation and clinical significance	6
Creating standards for liquid biopsies: the BLOODPAC experience	6
Diagnostic and predictive value of liquid biopsy-derived exosome miR-21 for breast cancer: a systematic review and meta-analysis	6
Exploring the prognostic and predictive potential of bacterial biomarkers in non-gastrointestinal solid tumors	6
Role of oral microbiome in modulating immune response in oral cancer development. a systematic review	6
Identification of novel biomarkers in renal cell carcinoma	6
MicroRnas in preeclampsia	6
A profile of the Visitect® CD4 and Visitect® CD4 advanced disease for management of people living with HIV	6
Diagnostic accuracy of CRISPR technology for detecting SARS-CoV-2: 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
Screening for oropharyngeal cancer: the time is now	5
Development and validation of a ligand–receptor pairs signature to predict outcome and provide a therapeutic strategy in gastric cancer	5
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity	5
RT-LAMP in SARS-CoV-2 detection: point to improve primer designing and decrease molecular diagnosis pitfalls	5
A charming molecular profile in the wrong tissue: the pathologist in the era of molecular diagnostics in the gastrointestinal tract	5
Brain tumors and circulating micrornas: a systematic review and diagnostic meta-analysis	5
The biomolecular corona of extracellular nanoparticles holds new promises for advancing clinical molecular diagnostics	5
Diagnostic accuracy of serum derived exosomes for hepatocellular carcinoma: a systematic review and meta-analysis	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
α-synuclein as an emerging pathophysiological biomarker of Alzheimer’s disease	5
Peripheral blood biomarkers in monitoring treatment response in breast cancer patients	5
Diagnostic significance of heart-type fatty acid-binding protein as a potential biomarker to predict the mortality rate of patients with sepsis: a systematic review and meta-analysis	5
Diagnostic accuracy of circulating-free DNA for the determination of hepatocellular carcinoma: a systematic review and meta-analysis	5
Next-generation sequencing for laboratory diagnosis of infectious diseases	5
The use of metagenomics to enhance diagnosis of encephalitis	5
Role of N6-methyladenosine modification in pathogenesis of ischemic stroke	5
Borderline SARS-CoV-2 patients: the trace behind	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
Promising biomarkers of Kawasaki disease: markers that aid in diagnosis	5
The tumor immune microenvironment in pancreatic cancer and its potential in the identification of immunotherapy biomarkers	5
Low-cost molecular methodology for blood group antigens identification and genotyping contribution to transfusion efficacy in multiple transfused patients	5
Detection of lung cancer and stages via breath analysis using a self-made electronic nose device	5
An update on current and novel molecular diagnostics for the diagnosis of invasive fungal infections	5
Emerging role of transfer RNA-derived small RNAs (tsRNAs) in hepatocellular carcinoma	5
Next generation immuno-oncology biomarkers in gastrointestinal cancer: what does the future hold?	4
Blood soluble Fas concentrations and ischemic stroke patient mortality	4
Advances in RT-LAMP for COVID-19 testing and diagnosis	4

Evaluation of transcriptomic molecular classification, biological behavior, and clinicopathological features in hepatocellular carcinoma	4
Lost in translation: the pitfalls of Ensembl gene annotations between human genome assemblies and their impact on diagnostics	4
The potency of cell-based assays to predict response to TNF inhibitor therapy	4
Clinical utilization of airway inflammatory biomarkers in the prediction and monitoring of clinical outcomes in patients with chronic obstructive pulmonary disease	4
Challenges in diagnosing hydatidiform moles: a review of promising molecular biomarkers	4
Practical considerations for pathological diagnosis and molecular profiling of cholangiocarcinoma: an expert review for best practices	4
Research advancement in fluid biomarkers for Parkinson’s disease	4
Gestational trophoblastic disease: STR genotyping for precision diagnosis	4
Detecting glycoproteins predictors of traumatic brain injury	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
The emerging role of liquid biopsy in oral squamous cell carcinoma detection: advantages and challenges	4
Comet-FISH analysis of urothelial cells. A screening opportunity for bladder cancer?	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
Circulating tumor DNA and urinary tumor DNA: useful biomarkers for bladder cancer detection	4
We have reached single-visit testing, diagnosis, and treatment for hepatitis C infection, now what?	4
A sandwich chemiluminescent magnetic microparticle immunoassay for cryptococcal antigen detection	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
Circulating tumor DNA as a powerful tool in diagnostics and treatment outcome prediction – focus on large B–cell lymphomas and follicular lymphomas	4
Detection of SARS-CoV-2 in tissue: the comparative roles of RT-qPCR, in situ RNA hybridization, and immunohistochemistry	4
Gastrin-releasing peptide receptor agonists and antagonists for molecular imaging of breast and prostate cancer: from pre-clinical studies to translational perspectives	4
Promotor methylation in ocular surface squamous neoplasia development: epigenetics implications in molecular diagnosis	4
Primary open-angle glaucoma: a perspective from plasma metabolomics	4
Are we closer to robust predictors of recurrent pregnancy loss by means of integrating different types of omics data?	4
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications	4
Strengths and limitations of molecular diagnostics for Pneumocystis jirovecii pneumonia	4
Emerging prognostic biomarkers in advanced cutaneous melanoma: a literature update	3
Clinical value of identifying genes that inhibit hepatocellular carcinomas	3
Research tests for the diagnosis of tuberculosis infection	3
How can we improve the successful identification of patients suitable for CAR-T cell therapy?	3
Circulating microRNA biomarkers in melanoma and non-melanoma skin cancer	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
Molecular biomarkers of diffuse axonal injury: recent advances and future perspectives	3
Advances in pancreatic cancer diagnosis: from DNA methylation to AI-assisted imaging	3
Current status of diagnostic assays for emerging zoonotic viruses: Nipah and Hendra	3
The diagnosis of Huntington’s disease by different molecular tools: a systematic review	3
Villin expression in human tumors: a tissue microarray study on 14,398 tumors	3
Smaller, cheaper, faster: where next for liquid biopsies?	3
Applications of ctDNA testing to monitor and detect residual disease in breast cancer	3
Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine	3
Molecular biomarkers of blunt cardiac injury: recent advances and future perspectives	3
Diagnostic utility of rapid sequencing in critically ill infants: a systematic review and meta-analysis	3
A systematic review on the molecular pathways of Ameloblastic carcinoma when compared to Ameloblastoma	3
Perspective: cell death mechanisms and early diagnosis as precondition for disease modification in Parkinson’s disease: are we on the right track?	3
Technical aspects of loop‐mediated isothermal amplification (LAMP) assay in cancer	3
Clinical utility of reproductive carrier screening for preconception and pregnant couples for multiple genetic conditions: a systematic review and meta-analysis	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
Diagnosis and management of invasive fungal diseases by next-generation sequencing: are we there yet?	3
Advances in tests for colorectal cancer screening and diagnosis	3
A review of the value of point-of-care testing for community-acquired pneumonia	3
Overview of point-of-care diagnostic options for detection of chlamydia trachomatis : current technology and implementation considerations	3
Updates in diagnosing polycystic ovary syndrome-related infertility	3
Serum Sema7A is increased in patients with acute aortic dissection	3
Implementing Individualized quality control plans and managing risk at the point-of-care for molecular diagnostics	3
Point-of-care testing for viral-associated pulmonary aspergillosis	3
Sample-to-result molecular diagnostic platforms and their suitability for infectious disease testing in low- and middle-income countries	3