Francisco Bustos

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper identifies SRPK-mediated phosphorylation of MAP1S, showing it regulates proteolytic processing and microtubule binding during neurodevelopment.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper investigates the role of imprinted XCI in polar trophoblast cells and shows that the Rlim-Rex1 axis is essential for maintaining their fate and preventing early lethality in female mice.

This paper identifies a novel RLIM variant causing severe Tonne-Kalscheuer syndrome by disrupting protein stability and function.

The paper identifies a RNF12-USP26 amplification loop critical for germ cell specification and shows its disruption in urogenital disorders.

The paper shows SRPK regulates ubiquitin-dependent neurodevelopmental signalling by phosphorylating RNF12, linking SRPK mutations to intellectual disability.