Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.
PMID:35256540
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
PMID:35220969
Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants.
PMID:34573285
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
PMID:34492006
Advances in mouse genetics for the study of human disease.
PMID:34089057
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
PMID:34075208
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
PMID:33962631
The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives.
PMID:33833777
Model matchmaking.
PMID:33473233
Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.
PMID:32988995
Rosy Beginnings: Studying Peroxisomes in Drosophila.
PMID:32984330
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
PMID:32787960
Model Organisms: Nature's Gift to Disease Research.
PMID:32029578