Erwan Delage

Incompletely penetrant protein-truncating variants confer developmental disorder risk through partial reductions in gene expression

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

Investigating the Interplay Between Prematurity and Genetic Variation in the Context of Rare Developmental Disorders

The paper examines how prematurity interacts with genetic variation in rare developmental disorders, finding independent and additive effects on phenotypic severity and identifying genetic contributions to preterm birth risk.

Patterns and drivers of diatom diversity and abundance in the global ocean

This study analyzes diatom diversity and abundance in the global ocean using Tara Oceans data, identifying key environmental drivers and community patterns.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.