Tarja Joensuu

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

Anna‐Kaisa Anttonen, I. Mahjneh, Riikka H. Hämäläinen et al. · Nature Genetics · 2005 · 241 citations

Life Sciences, Genetics, Molecular Genetics +9

Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3

Tarja Joensuu, Riikka H. Hämäläinen, Bo Yuan et al. · The American Journal of Human Genetics · 2001 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Mutations in KERA, encoding keratocan, cause cornea plana

Natalia S. Pellegata, José L. Dieguez-Lucena, Tarja Joensuu et al. · Nature Genetics · 2000 · 201 citations

Medicine, Genetics, Molecular Genetics +10

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Avital Adato, Sarah Vreugde, Tarja Joensuu et al. · European Journal of Human Genetics · 2002 · 174 citations · Full text

Life Sciences, Molecular Biology, Neuroscience +12