Genetic Testing and Molecular Biomarkers

Papers
(The median citation count of Genetic Testing and Molecular Biomarkers is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2020-11-01 to 2024-11-01.)
ArticleCitations
Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy24
Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network23
Survivin in Breast Cancer: A Review17
Variants c.677 C>T, c.1298 A>C inMTHFR, and c.66 A>G inMTRRAffect the Occurrence of Recurrent Pregnancy Loss in Chinese Women16
Differential Expression of miR-21, miR-23a, and miR-27a, and Their Diagnostic Significance in Egyptian Colorectal Cancer Patients14
Relationship Between the ApoE Gene Polymorphism and Type 2 Diabetes Mellitus Complications14
Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis14
CmP Signaling Network Leads to Identification of Prognostic Biomarkers for Triple-Negative Breast Cancer in Caucasian Women14
HnRNPA2/B1 Is a Novel Prognostic Biomarker for Breast Cancer Patients12
miR-132-3p, miR-106b-5p, and miR-19b-3p Are Associated with Brain-Derived Neurotrophic Factor Production and Clinical Activity in Multiple Sclerosis: A Pilot Study11
Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme11
Claspin Overexpression Promotes Tumor Progression and Predicts Poor Clinical Outcome in Prostate Cancer9
Urinary Exosomal microRNA-21 as a Marker for Scrub Typhus-Associated Acute Kidney Injury9
Prognostic Role of Circular RNAs Expression in Bladder Carcinoma: A Meta-Analysis9
lncRNA TINCR SNPs and Expression Levels Are Associated with Bladder Cancer Susceptibility9
The SELS rs34713741 Polymorphism Is Associated with Susceptibility to Colorectal Cancer and Gastric Cancer: A Meta-Analysis9
Clinical Significance and Prognostic Value of Lactate Dehydrogenase Expression in Cervical Cancer9
Association of ABCB1 and CYP450 Gene Polymorphisms and their DNA Methylation Status with Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Population9
LncRNA-HEIH is a Novel Diagnostic and Predictive Biomarker in Gastric Cancer8
Identification of Causative Variants Contributing to Nonsyndromic Orofacial Clefts Using Whole-Exome Sequencing in a Saudi Family8
Histone Deacetylase 7 Gene Overexpression Is Associated with Poor Prognosis of Triple-Negative Breast Cancer Patients7
Identification and Analysis of Key Genes Driving Gastric Cancer Through Bioinformatics7
PCSK9 E670G (rs505151) Variant and Coronary Artery Disease Risk Among Diabetics7
Comprehensive Analysis of Expression and Prognostic Value of Selenoprotein Genes in Thyroid Cancer7
Association of SNPs in Lipid Metabolism Gene Single Nucleotide Polymorphism with the Risk of Obesity in Children7
The Era of the Coronavirus Disease 2019 Pandemic: A Review on Dynamics, Clinical Symptoms and Complications, Diagnosis, and Treatment7
Upregulation of the Stress-Induced Protein Kinase CK1 (CSNK1D) Protein is Associated with a Poor Prognosis in Hepatocellular Carcinoma6
Construction of a microRNA–mRNA Regulatory Network in De Novo Cytogenetically Normal Acute Myeloid Leukemia Patients6
Lipoprotein Lipase Gene Polymorphisms Are Associated with Myocardial Infarction Risk: A Meta-Analysis6
Screening of Potential Key Genes Related to Tubal Factor Infertility Based on Competitive Endogenous RNA Network6
Species-Level Profiling of Ixodes pacificus Bacterial Microbiomes Reveals High Variability Across Short Spatial Scales at Different Taxonomic Resolutions6
Association Between the TaqI (rs731236 T>C) Gene Polymorphism and Dental Caries Risk: A Meta-analysis6
The MMP-1 Gene rs1799750 Polymorphism Is Associated with Breast Cancer Risk6
Association Between Single Nucleotide Polymorphisms of miRNAs and Gastric Cancer: A Scoping Review6
Correlation Between Polymorphisms of the SIRT1 Gene microRNA Target Sites and Diabetic Nephropathy5
Genetic and Disability Discrimination During COVID-195
The Role of TMIGD1 as a Tumor Suppressor in Colorectal Cancer5
Long Noncoding RNA NEAT1 Expression and Its Target miR-124 in Diabetic Ischemic Stroke Patients5
Tumor Necrosis Factor Alpha Gene Polymorphisms Increase Susceptibility to Adenovirus Infection in Children and Are Correlated with Severity of Adenovirus-Associated Pneumonia5
Common Variants of the OPG gene Are Associated with Osteoporosis Risk: A Meta-Analysis5
Clinical Significance of POM121 Expression in Lung Cancer5
Impact of Vitamin D Receptor Gene Polymorphism on Systemic Lupus Erythematosus Susceptibility: A Pooled Analysis5
Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia—Major Patients with theXmnI Polymorphism5
E2F5 Promotes the Malignancy of Ovarian Cancer Via the Regulation of Hippo and Wnt Pathways5
Association of the Expression Levels of Long-Chain Noncoding RNA TUG1 and Its Gene Polymorphisms with Knee Osteoarthritis5
Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome5
Distribution of theACE1 DAllele in the Bosnian–Herzegovinian Population and its Possible Role in the Regional Epidemiological Picture of COVID-195
LncRNA PVT1 Regulates miR-1207-5p to Affect Colon Cancer Proliferation and Migration via the Wnt6/β-catenin2 Pathway5
miR-1 Targeted Downregulation of Bcl-2 Increases Chemosensitivity of Lung Cancer Cells5
Association of Multiple Dopamine D3 Receptor Gene 3′UTR Polymorphisms with Susceptibility to Parkinson's Disease and Clinical Efficacy of Piribedil Therapy5
iHope Genetic Health: Enabling Genomic Medicine Across the Globe5
Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy4
Possible Association ofPER2/PER3Variable Number Tandem Repeat Polymorphism Variants with Susceptibility and Clinical Characteristics in Pancreatic Cancer4
IdentifyingFBLN1(Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases4
Toll-Like Receptor 9 Expression Levels in Breast Carcinoma Correlate with Improved Overall Survival in Patients Treated with Neoadjuvant Chemotherapy and Could Serve as a Prognostic Marker4
Significance of TP53 Mutation in Cellular Process and Disease Progression in Lung Adenocarcinoma4
Genetic Association Between SLC22A12 Variants and Susceptibility to Hyperuricemia: A Meta-Analysis4
Investigation of Vascular Endothelial Growth Factor Polymorphisms on Risk, Metastasis, Laterality, and Prognosis of Colorectal Cancer in Turkish Subjects4
Exome Sequencing Reveals Novel TTN Variants in Saudi Patients with Congenital Titinopathies4
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis4
The CYP19A1 rs700519 Polymorphism and Breast Cancer Susceptibility in China: A Case–Control Study and Updated Meta-Analysis4
Gene Environment Interactions Between theCOL9A1Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus4
A Five-mRNA Expression Signature to Predict Survival in Oral Squamous Cell Carcinoma by Integrated Bioinformatic Analyses4
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family4
Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene4
Identification and Validation of TREM2 in Intracranial Aneurysms4
Association of Variants of the NFE2L2 Gene with Metabolic and Kidney Function Parameters in Patients with Diabetes and/or Hypertension4
Association of Transforming Growth Factor β1 Gene Polymorphisms and Inflammatory Factor Levels with Susceptibility to Sepsis4
Development of a High Resolution Melting Curve Analysis for the Detection of Hemoglobin δ-Chain Variants in Thailand and Identification of Hb A2-Walsgrave [codon 52 (GAT>CAT), Asp→His; HBD:c.157G&g3
MAD2L1 Functions As a Novel Diagnostic and Predictive Biomarker in Cholangiocarcinoma3
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature3
A Novel Intronic Splicing Mutation in theEXT2Gene of a Chinese Family with Multiple Osteochondroma3
Influence of Lysyl oxidase Polymorphisms in Cancer Risk: An Updated Meta-analysis3
P-Element-Induced Wimpy Testis Proteins and P-Element-Induced Wimpy Testis-Interacting RNAs Expression in Ovarian Cancer Stem Cells3
Whole Genome Screening for Sick Newborns: Equity Now3
Dapagliflozin Reduces Urinary Albumin Excretion by Downregulating the Expression of cAMP, MAPK, and cGMP-PKG Signaling Pathways Associated Genes3
TLR9 2848 G/A Gene Polymorphism in HCV+, HIV+, and HCV+/HIV+ Individuals3
Has_Circ_0002490 Circular RNA: A Potential Novel Biomarker for Lung Cancer3
B7-H6 as a Diagnostic Biomarker for Cervical Squamous Cell Carcinoma3
Association of Genetic Variation in a Wnt Signaling Pathway Gene (β-Catenin) with Susceptibility to Leukoaraiosis3
Association of the CASP3 rs4647602 Gene Polymorphism with Periodontitis in South Indians of Tamil Ethnicity3
The Presence of Biofilms in Instrumented Spinal Fusions3
Genotypic Analyses of the Sclerostin rs851056 and Dickkopf rs1569198 Polymorphisms in Mexican-Mestizo Postmenopausal Osteoporosis: A Case–Control Study3
Microsatellite Instability Analysis in Gastric Carcinomas of Moroccan Patients3
A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate3
Elevated Expression of ADAM10 Induced by HPV E6 Influences the Prognosis of Cervical Cancer3
Association Study of Mitochondrial DNA Haplogroup D and C5178A Polymorphisms with Chronic Kidney Disease3
Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas3
Hematocrit-Related Alterations of Circulating microRNA-21 Levels in Heart Failure Patients with Reduced Ejection Fraction: A Preliminary Study3
Noninvasive Detection of Esophageal Cancer by the Combination of mSEPT9 and SNCG2
Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients2
Knockdown of GSG2 Suppresses the Progression of Colorectal Cancer Cells2
Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-192
Long Noncoding RNA IPW Is a Novel Diagnostic and Predictive Biomarker in Lung Adenocarcinoma2
Impacts of Overturning Roe v. Wade on Reproductive Health Care2
Associations Between Osteopontin Variants and Systemic Lupus Erythematosus: A Meta-Analysis2
MiR-504-3p Has Tumor-Suppressing Activity and Decreases IFITM1 Expression in Non-Small Cell Lung Cancer Cells2
A Shared Susceptibility Locus in the p53 Gene for both Gastric and Esophageal Cancers in a Northwestern Chinese Population2
EPAS1 Promoter Hypermethylation is a Diagnostic and Prognostic Biomarker for Non-Small Cell Lung Cancer2
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey2
Inherited Cancer Knowledge Among Black Females with Breast Cancer Before and After Viewing a Web-Based Educational Video2
Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip2
Prognostic Value of Transglutaminase 2 in Patients with Solid Tumors: A Meta-analysis2
Evaluation of Maximum DNA Yield from a New Noninvasive Buccal Collection Device Following Various Extraction Protocols2
Identification of Novel EYS Mutations by Targeted Sequencing Analysis2
A Meta-Analysis of the Association Between the VEGF +936C>T Gene Polymorphism and Digestive System Cancer Susceptibility2
Long Noncoding RNA SLC20A1-1 Induces Nucleus Pulposus Apoptosis by Sponging miR-146a-5p2
Successful Live Birth Following Natural Cycle Oocyte Retrieval in a Woman with Primary Infertility and Atypical Primary Ovarian Insufficiency with a DNAH1 Gene Deletion Mutation2
Effects of the Methylation Levels for the Breast Cancer Associated Genes BCSG1 and BRCA1 on Cellular Proliferation and Migration2
Building iHope Genetic Health2
Bacterial Identification and Visualization of Bacterial Biofilms Adjacent to Fracture Sites After Internal Fixation2
ElevatedSYNCExpression Is Associated with Gastric Tumorigenesis and Infiltration of M2-Polarized Macrophages in the Gastric Tumor Immune Microenvironment2
ABCB1 Single Nucleotide Polymorphism Genotypes as Predictors of Paclitaxel-Induced Peripheral Neuropathy in Breast Cancer2
Prevalence and Genetic Analysis of β-Thalassemia in the Dali Bai Autonomous Prefecture of the Yunnan Province, China2
The T-182C Polymorphism Enhances Promoter Activity of the Norepinephrine Transporter Gene, but may not be Associated with Antidepressant Response2
Silica-Coated Iron Oxide Nanoparticles for DNA Isolation for Molecular Genetic Studies in Hematology2
Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing2
Association of CST3 Gene with Its Protein: Cystatin C in Health and Severe Periodontal Disease2
In Silico-Analysis of the Multi-Omics Data Identified the Ataxia Telangiectasia Mutated Gene as a Potential Biomarker of Breast Invasive Carcinoma2
Bioinformatic Analysis of Potential Biomarker for hsa-miR-196b-5p in Mesothelioma2
Construction of Competing Endogenous RNA Networks Incorporating Transcription Factors to Reveal Differences in Granulosa Cells from Patients with Endometriosis1
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population1
Socioeconomic Barriers Surrounding Genetic Counseling1
Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas1
Differentially Expressed Circular RNAs in Degenerative Diseases Related to Low Back Pain: Potential of Circular RNAs as Biomarkers1
Investigating the Association of MTHFR C677T Gene Polymorphism with Recurrent Spontaneous Abortion Among Azerbaijani Women from Northwest Iran1
Comprehensive Analysis of the Mechanism of Periodontitis-Related mRNA Expression Combined with Upstream Methylation and ceRNA Regulation1
PARP1 Is a Prognostic Marker and Targets NFATc2 to Promote Carcinogenesis in Melanoma1
The Differential Expression of Circular RNAs in Type 2 Diabetes Mellitus and Latent Autoimmune Diabetes in Adults1
Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families1
Determination of the Relationship Between the Development and Recurrence of Subacute Thyroiditis and Human Leukocyte Antigen Subtypes1
The Application of Artificial Intelligence in the Diagnosis of Cancer and Rare Genetic Diseases1
Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study1
Clinicopathological and Prognostic Significance of SMYD3 in Human Cancers: A Systematic Review and Meta-analysis1
Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy1
The Ratio of miR-122 to miR-20a (miR-122/miR-20a) Is a Useful Minimally Invasive Biomarker for Non-Alcoholic Fatty Liver Disease Detection1
Predictive Value of ABCC2 and UGT1A1 Polymorphisms on Irinotecan-Related Toxicities in Patients with Cancer1
Distinct Performance of Methylated SEPT9 in Upper and Lower Gastrointestinal Cancers and Combined Detection with Protein Markers1
Evaluating the Clinical Application of Automatic Chromosome Harvesting for Prenatal Karyotype Analysis1
Diagnostic Yield and Cost–Benefit When Utilizing Clinical Whole Genome Sequencing1
Upregulation of Long Noncoding RNA PCAT1 in Iranian Patients with Colorectal Cancer and Its Performance as a Potential Diagnostic Biomarker1
Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles1
Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility1
Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer1
Identification of Chromosomal Regions Linked to Autism-Spectrum Disorders: A Meta-Analysis of Genome-Wide Linkage Scans1
Could Aneurysm and Atherosclerosis-Associated MicroRNAs (miR 24-1-5p, miR 34a-5p, miR 126-5p, miR 143-5p, miR 145-5p) Also Be Associated with Coronary Artery Ectasia?1
The Effect of the Kirsten Rat Sarcoma Viral Oncogene Homolog (Kras) Proto-Oncogene, GTPase Genetic Polymorphism on the Safety and Efficacy of Bevacizumab Combination Treatment Regimens for Pati1
Significant Association of the Catechol-O-Methyltransferase Gene Polymorphism (rs4680) and Opioid Use Disorder in Asian Populations, but not Caucasian Populations: A Meta-analysis1
Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients1
Clinical Characteristics and Genotyping of Pediatric Adenovirus Pneumonia Disease and Coinfection in Southeast China1
Identification of Key Pathways and Genes Downstream of Insulin-Like Growth Factor 1 in Thyroid Carcinoma1
Association of rs2862851 inTGFAGene with Peripheral TGFA Levels and the Severity of Knee Osteoarthritis in the Han Chinese Population1
Assessment of Multiple Annealing and Looping-Based Amplification Cycle-Based Whole-Genome Amplification for Short Tandem Repeat Genotyping of Low Copy Number-DNA1
DPYDc.1905 + 1G>A Promotes Fluoropyrimidine-Induced Anemia, a Prognostic Factor in Disease-Free Survival, in Colorectal Cancer1
C Deletion at the re74650330 Locus of the SLC39A8 Gene (rs74650330) Increases the Risk of Coronary Artery Disease in Individuals with Low-Density Lipoprotein Cholesterol Levels1
Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer1
Serum hsa-miR-30e As a Potential Biomarker to Predict the Effect of Neoadjuvant Chemoradiation Therapy in Locally Advanced Rectal Cancer1
Association of Nucleostemin Polymorphisms with Chronic Hepatitis B Virus Infection in Chinese Han Population1
MAFK Polymorphisms Located in 3′-UTR are Associated with Severity of Atrophy and CDKN2A Methylation Status in the Gastric Mucosa1
Distribution of 22 Single Nucleotide Polymorphisms in 13 Cytokine Genes in Malays, Chinese, and Indians in Peninsular Malaysia1
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis1
Identifying Diagnostic and Prognostic Differentially Expressed Genes of Gastric Cancer Based on Bioinformatics Analyses of RNA-seq Data1
Association Study of Pleural Mesothelioma and Oncogenic Simian Virus 40 in the Crocidolite-Contaminated Area of Dayao County, Yunnan Province, Southwest China1
Learning from the Past: Discussing Lessons from Reproductive Justice in the Gene-Editing Sphere1
A Circulating MicroRNA-375 for the Detection of Liver Cancer: A Meta-Analysis1
Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics1
Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I1
Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy1
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