Elísabet Einarsdóttir

This paper simplifies the SMARTer Pico library prep protocol by reducing fragmentation time and skipping fragmentation, showing minimal impact on data quality and complexity.

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.

The paper identifies a conserved DNA motif bound by PLAG1 that regulates zygotic genome activation in mice and humans, affecting early embryo development.