L. Vestito

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

D. Smedley, M. Ryten, H. Houlden, 2022, medRxiv.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Thomas A. Hawkins, M. Bitner-Glindzicz, J. Rihel, 2019, Scientific Reports.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Translational profiling of mouse dopaminoceptive neurons reveals region-specific gene expression, exon usage, and striatal prostaglandin E2 modulatory effects

Evelien H. S. Schut, P. Greengard, A. Nairn, 2022, Molecular Psychiatry.