Current Position(s)
Senior full professor
Research unit(s)
Research disciplines
-
Medical and health sciences
- Analysis of next-generation sequence data
- Bioinformatics data integration and network biology
- Bioinformatics of disease
- Clinical genetics and molecular diagnostics
- Medical epigenomics
- Medical genomics
- Medical transcriptomics
- Genetics
- Stem cell biology
- Ophthalmology
- Molecular diagnostics
- Developmental biology
Expertise
inherited retinal diseases
inherited blindness
retina
genetic eye diseases
induced pluripotent stem cells
cellular models
animal models
Xenopus
gene editing
gene therapy
antisense oligonucleotide therapy
CRISPR/Cas9
transcription factors
gene regulation
enhancers
enhanceropathies
structural variants
3D genome
chromosome conformation capture
Hi-C
4C
UMI-4C
Pore-C
medical genetics
human molecular genetics
genomics
functional genomics
clinical genomics
transcriptomics
cis-regulation