Katrin Õunap

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M. Elo, Kirsi H. Pietiläinen et al. · The Lancet Neurology · 2011 · 421 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +14

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Bregje W.M. van Bon, Heather C. Mefford, Björn Menten et al. · Journal of Medical Genetics · 2009 · 370 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 214 citations · Full text

Life Sciences, Genetics, Neurology +14