Aitana Alonso-González

This study shows that polygenic risk scores improve the identification of IPF patients carrying rare variants associated with monogenic pulmonary fibrosis.

The paper identifies rare genetic variants associated with sepsis-associated ARDS using whole-exome sequencing and network-based clustering analysis.

This study investigates the impact of rare variants and polygenic risk scores on survival in idiopathic pulmonary fibrosis patients, finding that rare variants are associated with worse outcomes.

The paper identifies de novo mutations in ASD, distinguishing between germinal and postzygotic mutations and their biological roles across different developmental stages and brain regions.