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148 articles
November 20268
Molecular Diagnostics and Clinicopathologic Spectrum of Kinase Fusion-Positive Spindle Cell Neoplasms of the Oral and Maxillofacial Region: A Systematic Review and Pooled Patient-Level Analysis.
This systematic review and pooled patient-level analysis characterized kinase fusion-positive spindle cell neoplasms of the oral and maxillofacial region using published reports.
Association of HTR3A and COMT polymorphisms with electroacupuncture response for chemotherapy-induced nausea and vomiting in breast cancer: a secondary analysis of a randomized controlled trial.
This exploratory, treatment-stratified secondary analysis of a randomized controlled trial examined whether three HTR3A and COMT polymorphisms were associated with complete protection (CP) against chemotherapy-induced…
The relationship between sirtuin1 gene polymorphism and coronary heart disease: Systematic review and meta-analysis.
This systematic review and meta-analysis examined associations between four SIRT1 gene polymorphisms and coronary heart disease (CHD), drawing on 9 articles with 1,839 cases and 1,937 controls.
Prevalence of generalized joint hypermobility, hypermobility spectrum disorders and Ehlers-Danlos syndrome: systematic review and meta-analysis.
This systematic review and meta-analysis assessed the prevalence of generalized joint hypermobility (GJH), hypermobility spectrum disorder (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS).
A phase 2 study of tipifarnib in children and young adults with tumors harboring HRAS genomic alterations: NCI-COG Pediatric MATCH trial (APEC1621M).
This phase 2 NCI-COG Pediatric MATCH study evaluated intermittent oral tipifarnib in children and young adults with relapsed or refractory solid tumors carrying specified HRAS mutations.
Germline Genetic Variants and Epilepsy Surgery Response: Individual Participant Pooled Analysis of 272 Patients.
This systematic review and individual-participant pooled analysis examined seizure outcomes after resection or laser ablation in 272 people with pathogenic or likely pathogenic germline epilepsy variants, excluding…
Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.
This PRISMA-guided systematic review qualitatively synthesized 21 studies of genotype–phenotype correlations in non-HbE β-thalassemia intermedia, a heterogeneous disorder now included within non-transfusion-dependent…
The shared genetic architecture of the TDP-43 spectrum: Bridging clinical FTLD and neuropathological endophenotypes.
This inverse-variance fixed-effects and random-effects meta-analysis examined shared genetic associations across neuropathological TDP-43 conditions and clinically diagnosed frontotemporal lobar degeneration (FTLD).
October 202616
MLH1 AND MSH2 PROTEIN EXPRESSION LOSS AND MICROSATELLITE INSTABILITY IN COLORECTAL ADENOMAS OF PATIENTS WITH LYNCH SYNDROME: A SYSTEMATIC REVIEW AND META-ANALYSIS.
This systematic review and meta-analysis assessed the relationship between microsatellite instability (MSI) and loss of MLH1 or MSH2 expression in colorectal adenomas from people with Lynch syndrome.
Germline BRCA-Lynch syndrome MINAS: report of six Argentinian families and a systematic review of the literature.
This report combined six Argentinian families with a systematic review of 40 publications to describe the phenotype of BRCA-Lynch syndrome (BRCA-LS) MINAS. The analysis included 92 patients from 69 families.
Molecular-genetic mechanisms of cerebral arteriovenous malformations: A systematic review of germline, somatic and experimental evidence.
This systematic review synthesised human genetic, molecular, and experimental evidence on cerebral arteriovenous malformation (AVM) formation, clinical course, and potential therapeutic targets.
Meta-analysis of 990 EBV genomes identifies EBER2 SNP7048 and its interaction with HLA-A*11:01 driving nasopharyngeal carcinoma risk.
This meta-analysis examined whether EBV genetic variation and host genetics are associated with nasopharyngeal carcinoma (NPC) across endemic populations in Singapore, Hong Kong, and China’s Guangdong and Guangxi…
Neurosurgical manifestations and management of mucopolysaccharidoses: A systematic review.
This PRISMA-guided systematic review synthesized contemporary reports of neurosurgical manifestations and management across mucopolysaccharidosis (MPS) subtypes.
Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.
This gene-based association analysis and meta-analysis examined common and low-frequency genetic variants related to depression among European-ancestry patients with Parkinson’s disease (PD) in three population-based…
Genetic correlates of corticobasal degeneration: a systematic review and meta-analysis.
This PRISMA-guided systematic review and meta-analysis synthesized genetic association studies of corticobasal degeneration (CBD), including 22 studies published between 2001 and 2025.
Local ancestry-aware genome-wide meta-analysis uncovers novel genetic loci for sickle cell disease nephropathy.
This local ancestry-aware genome-wide association meta-analysis examined estimated glomerular filtration rate in participants from two well-characterized adult sickle cell disease cohorts, seeking genetic loci…
The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.
This systematic review and meta-analysis assessed autoimmune susceptibility in people with Klinefelter syndrome (47,XXY), using studies of autoimmune disease and serological markers.
Safety and efficacy of delpacibart zotadirsen in Duchenne muscular dystrophy mutations amenable to exon 44 skipping in the USA (EXPLORE44): a randomised, placebo-controlled, double-blind, phase 1/2 trial.
EXPLORE44 was a two-part, randomised, double-blind, placebo-controlled phase 1/2 trial at ten US sites, studying delpacibart zotadirsen (del-zota) in healthy adult men and in ambulatory and non-ambulatory males aged…
FDA Approval Summary: Erdafitinib for FGFR3-Altered Locally Advanced or Metastatic Urothelial Carcinoma.
This FDA approval summary describes evidence supporting erdafitinib for patients with FGFR3-altered locally advanced or metastatic urothelial carcinoma that progressed during or after at least one systemic therapy.
Association of immune checkpoint-related polymorphisms in PD-1, PD-L1, and CTLA-4 genes with susceptibility to genitourinary cancer: a meta-analysis.
This meta-analysis pooled evidence from 16 case-control studies examining six single-nucleotide polymorphisms in PD-1, PD-L1, and CTLA-4 genes and susceptibility to genitourinary cancers, including urothelial, renal…
Application of a concise video to improve patient understanding of tumor genomic testing in community and academic practice settings.
This multicenter clinical trial evaluated a 3–4 minute educational video for patients undergoing standard-of-care tumor genomic testing (TGT), across cancer types and academic and community settings.
Epigenetic insights into anti-tuberculosis drug-induced liver injury: A systematic review of DNA methylation as a potential biomarker.
This systematic review assessed whether DNA methylation patterns are associated with susceptibility to anti-tuberculosis drug-induced liver injury (ATDILI).
Systematic review of the impact of germline mutations from unrelated bone marrow donors on post-allogeneic transplantation.
This systematic review examined whether germline mutations in unrelated bone marrow donors are associated with outcomes after allogeneic hematopoietic stem cell transplantation.
Association of virulence genes with biofilm formation in clinical Enterococcus faecalis isolates: a systematic review and meta-analysis.
This systematic review and random-effects meta-analysis assessed associations between virulence gene carriage and microplate-measured biofilm formation in human clinical Enterococcus faecalis isolates.
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