Arnaud Boulling

The paper identifies a deep intronic splicing mutation in the GNPAT gene in cattle causing rhizomelic chondrodysplasia punctata, and demonstrates its phenotypic effects through genetic and functional analyses.

The paper detects recessive genetic defects in cattle using genomic data and life history analysis, identifying 33 new loci linked to juvenile mortality.

The paper compares the functionality and pathogenicity of 5' splice site GC>GT and GT>GC variants using a meta-analysis and functional assay, finding that GC>GT variants are largely non-pathogenic.

The paper identifies rare STIM1 coding variants enriched in chronic pancreatitis patients compared to controls, suggesting a potential genetic association.

The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.