Sebastian M. Fica

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

This study identifies somatic DDX41 mutations as gain-of-function alleles that drive aberrant splicing, particularly of SEPTIN7, contributing to MDS/AML pathogenesis.

The paper presents cryo-EM structures of human spliceosomes showing how SDE2, FAM32A, and Prp18 regulate 3' splice site selection by counteracting distal bias and stabilizing weaker proximal sites.

The paper shows that variation in 5 splice site sequence preferences correlates with the presence of METTL16 and SNRNP27K, using inter-species association mapping in Saccharomycotina species.

The paper shows that m6A modification of U6 snRNA affects splicing accuracy and efficiency, revealing two major classes of 5' splice sites in eukaryotes.

psiCLIP identifies dynamic RNA binding patterns of spliceosomal helicases before and after exon ligation, revealing their interactions with auxiliary factors.

The paper presents a cryo-EM structure of the yeast P complex spliceosome post-exon ligation, revealing how the 3'-splice site is recognized through non-Watson-Crick pairing.