Mikko J. Frilander

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.

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.

This study identifies RBM41 as a paralog of U11/U12-65K in the minor spliceosome, showing distinct roles in splicing and spliceosome dynamics.

The paper shows that template-switching mutations generate over 6,000 hairpin structures in primates, leading to 18 new human miRNA genes, 26% of which emerged since primates originated.

The paper improves the chromosome-level genome assembly of the Glanville fritillary butterfly using SMRT sequencing and a linkage map, increasing the assembly size by 94 Mb.

The paper identifies biallelic mutations in CENATAC as a cause of constitutional aneuploidy by disrupting minor intron splicing and causing chromosome segregation errors.