Martina Wilke

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

This study uses RNA-seq to improve diagnosis of neurodevelopmental disorders by identifying non-coding variants and reinterpreting coding variants, increasing diagnostic yield by 12%.

Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data

This paper introduces Reafect, a computational method that integrates metabolomics and whole exome sequencing to prioritize disease-causing genes in inborn errors of metabolism, showing improved accuracy in identifying causative variants.

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.