Katrin Õunap
Researcher Next ID · RN-016148
Researcher · Biochemistry, Genetics and Molecular Biology
, Estonia
- Works count
- 278
- Citation count
- 10,312
- H-index
- 51
- i10-index
- 149
Research interests
Publications
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Nature Reviews Endocrinology · 2018 · 10.1038/nrendo.2017.166
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
The American Journal of Human Genetics · 2017 · 10.1016/j.ajhg.2017.09.008
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study
The Lancet Neurology · 2011 · 10.1016/s1474-4422(11)70155-7
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Nature · 2010 · 10.1038/nature08727
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
Journal of Medical Genetics · 2009 · 10.1136/jmg.2008.063412
Current projects
No projects listed.