Area of research
Genetics · Cancer Research
Research interest
Research focused on Computational biology and Data sharing, with related work in Hereditary spastic paraplegia, Exome sequencing, Nonsynonymous substitution. Notable publications include 'Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases', 'Solving unsolved rare neurological diseases—a Solve-RD viewpoint', and 'AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia'.
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
<i>AP5Z1/SPG4</i> 8 frequency in autosomal recessive and sporadic spastic paraplegia