Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Biomedical Text Mining and Ontologies, Bioinformatics and Genomic Networks, and Genomic variations and chromosomal abnormalities.
MorPhiC Consortium: towards functional characterization of all human genes
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Human and mouse essentiality screens as a resource for disease gene discovery
The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation