Marta Cortón

This study uses genomic data from 11,084 patients to build a variant database and identify disease-associated signals, leading to molecular diagnoses in 32 unsolved rare disease cases.

RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

The paper develops GLOWgenes, a disease-aware network-based algorithm to prioritize new candidate genes for rare genetic diseases by evaluating heterogeneous molecular networks.

This study replicates previous findings on the association between androgen receptor polyQ alleles and COVID-19 severity in men, finding no significant association.

The paper builds a cohort-specific allelic frequency database to prioritize variants and genes in non-solved inherited retinal dystrophies, identifying 8 potential causative variants and 18 genes for further study.

VIsoQLR is a tool for identifying, quantifying, and fine-tuning mRNA isoforms using long-read sequencing data in low-throughput splicing assays.

The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.