• Publications
  • Influence
Identification and characterization of a novel tick-borne flavivirus subtype in goats (Capra hircus) in Spain.
TLDR
Empirical data demonstrates that the LIV-like virus detected is significantly divergent from LIV and Spanish sheep encephalitis virus (SSEV), and this virus encoded an amino acid sequence motif at the site of a previously identified marker for differentiating tick-borne flaviviruses.
Maturity Assessment model for Patient Blood Management to assist hospitals in improving patients' safety and outcomes. The MAPBM project.
TLDR
The MAPBM initiative aims to become a useful tool for healthcare organisations to implement PBM programmes and improve patients' safety and outcomes and proves the feasibility of implementing a sustainable model to measure and compare PBM clinical practice and outcomes across hospitals in Spain.
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
TLDR
The utility of genetic testing for adults with epilepsy, particularly for those with childhood-onset seizures, ID, and pharmacoresistance, is reinforced, due to longer survival and the complexity of the transition from pediatric to adult care.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
TLDR
P predictive phenotype evidence associated with specific curated genes can be systematically incorporated into variant interpretation to reduce uncertainty and increase the clinical utility of genetic testing.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of CLN2 Batten disease.
TLDR
Findings indicate that facilitated access to early epilepsy gene panel testing helps to increase diagnostic yield for CLN2 disease and shortens the time to diagnosis, enabling earlier intervention.
The KIDNEYCODE program: Diagnostic yield and clinical features of individuals with chronic kidney disease
TLDR
Though skewed to identify individuals with Alport syndrome, findings support the need to improve access to genetic testing for patients with CKD-particularly in the context of family history of kidney disease, hematuria, and hearing loss.