Hanna Koskiniemi-Kuendig

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and <i>NEK2</i> as a new disease gene

Koji M. Nishiguchi, Richard G. Tearle, Yangfan P. Liu et al. · Proceedings of the National Academy of Sciences · 2013 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz et al. · Nature Communications · 2019 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry

Giulia Venturini, Hanna Koskiniemi-Kuendig, Shyana Harper et al. · Genetics in Medicine · 2014 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Fine-tuning FAM161A gene augmentation therapy to restore retinal function

Yvan Arsenijévic, Ning Chang, Olivier Mercey et al. · EMBO Molecular Medicine · 2024 · 16 citations · Full text

Medicine, Genetics, Ophthalmology +12