His expertise and interests include Translational Bioinformatics, Applied Predictive Modelling & Machine Learning, Next Generation Sequence Analysis & Personalised Medicine, Drug Repositioning, Biomarker Discovery, Open Science, Data Science.
- A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
- The effects of genotype on inflammatory response in hippocampal progenitor cells: A computational approach
- The effects of genotype on inflammatory response in hippocampalprogenitor cells: A computational approach
- An epigenome-wide association study of Alzheimer's disease blood highlights robust DNA hypermethylation in the HOXB6 gene
- Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics