Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genetic Associations and Epidemiology, Biomedical Text Mining and Ontologies, Genomics and Rare Diseases, and Bioinformatics and Genomic Networks.
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
NonA and CPX Link the Circadian Clockwork to Locomotor Activity in Drosophila
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
Promiscuous or discriminating: Has the favored mRNA target of Fragile X Mental Retardation Protein been overlooked?