Anne‐Louise Leutenegger

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

PSAP-genomic-regions improves variant prioritization in whole genome sequencing by incorporating functional genomic regions, enhancing detection of both coding and non-coding pathogenic variants in rare disease diagnosis.

Deficiency of U4atac snRNA secondarily results in ciliary defects

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium

This study identifies genetic risk loci for differentiated thyroid cancer in multiethnic populations, finding novel associations and allele frequency differences between Oceanian and European ancestry groups.