Jakob Ek
Copenhagen University Hospital(DK)Rigshospitalet(DK)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Diabetes and associated disorders, Genetic factors in colorectal cancer, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes(2009)78 cited
- → Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature(2018)12 cited
- → Diagnostic yield of whole exome sequencing in a cohort of 825 patients(2025)
- → Viral infection and brain inflammation with seizures in PARK7 deficiency(2025)
- [Exome sequencing for syndrome diagnostics].(2017)
- No association of mutations in NeuroD/BETA2 with MODY in Danish and Italian Caucasians(2000)
- Kostbehandling ved cøliaki(1999)