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122 articles
October 202624
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.
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.
Genetic Variants in Intracranial Atherosclerotic Disease: A Systematic Review and Targeted Meta-Analysis Highlighting the RNF213 rs112735431.
This systematic review and targeted meta-analysis examined genetic variants associated with intracranial atherosclerotic disease (ICAD) in human studies identified through September 2025.
Genotype-informed docosahexaenoic acid dosing based on the FADS Indel to reduce preterm and prolonged gestation: A secondary analysis of the ADORE randomized trial.
This post hoc secondary analysis of the multicentre ADORE randomised trial examined whether FADS Indel genotype modified the association between DHA dose and gestational outcomes.
Genome-wide meta-analysis dissects the genetic basis and health implications of circulating taurine.
This genome-wide meta-analysis examined the genetic basis of circulating taurine levels in 36,490 European individuals. The study identified six common and two rare genetic loci associated with taurine levels and…
PHOENIX: a study protocol for a pilot randomised controlled trial of pre-emptive pharmacogenomic panel testing in acute care settings with health economic evaluations.
The PHOENIX trial is a pilot randomized controlled trial assessing the impact of pre-emptive pharmacogenomic panel testing on adverse drug reactions (ADRs) and treatment failures in acute care settings.
A nationwide prospective randomized trial for diagnosing developmental disorders demonstrates genome sequencing outperforms standard of care.
This nationwide prospective randomized trial evaluated the diagnostic efficacy of genome sequencing (GS) compared to standard of care (SoC) in 567 individuals with unexplained developmental disorders (DD).
Brain-Derived Neurotrophic Factor Val66Met Polymorphism and Cognitive Outcome after Stroke: A Systematic Review.
This systematic review examined the association between the BDNF Val66Met polymorphism and cognitive outcomes in 2,494 adults post-stroke.
Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review.
This systematic review examined metabolomic evidence in 1511 participants with genetically characterised hypertrophic cardiomyopathy (HCM).
Genetic evidence for associations between gastroesophageal reflux disease and site-specific extraesophageal cancers: A Mendelian randomization study.
This Mendelian randomization study investigated the relationship between genetically predicted gastroesophageal reflux disease (GERD) and 22 extraesophageal cancers using data from over 600,000 individuals.
Incidence, severity, and associated risk factors for amyloid-related imaging abnormalities in anti-amyloid monoclonal antibody therapy for early Alzheimer's disease: a systematic review and meta-analysis.
This systematic review and meta-analysis evaluated the incidence and risk factors for amyloid-related imaging abnormalities (ARIA) in 12,610 patients with early Alzheimer's disease receiving anti-amyloid monoclonal…
Short-chain enoyl-CoA hydratase deficiency: a systematic review of clinical spectrum, genotype-phenotype correlations and survival predictors.
This systematic review examined short-chain enoyl-CoA hydratase 1 (SCEH) deficiency in 165 patients with confirmed ECHS1 variants.
Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.
Biallelic pathogenic FDXR variations were identified in 2017 as being responsible for sensorial neuropathies. The first reported patients suffered from auditory and optic sensorineural impairments (ANOA, MIM #617717).
New Primary and Secondary Prevention Measures for Cutaneous Melanoma: A Systematic Review.
This systematic review evaluated recent evidence on primary and secondary prevention strategies for cutaneous melanoma, analyzing 24 studies.
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