Author
University of HelsinkiORCID 0000-0001-7712-3218Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Nelli Jalkanen, Kalevi Trontti, Antto J. Norppa…·Olli P. H. Pietiläinen
The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.
M. Ur Rehman Pirzada, Geralle Powell-Rodgers, Jahmiera Richee…·Sergej Djuranović
This study shows that ZCRB1 is essential for U12 splicing, ciliogenesis, and WNT signaling, with loss-of-function effects observed in human cells and zebrafish.
Antto J. Norppa, Iftekhar Mahmud Chowdhury, Laura E. van Rooijen…·Mikko J. Frilander
This study identifies RBM41 as a paralog of U11/U12-65K in the minor spliceosome, showing distinct roles in splicing and spliceosome dynamics.