Josephine Wincent

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.

This study investigates the effects of CASK mutations in human neurons derived from iPSCs, showing reduced CASK protein and altered presynaptic development, with implications for excitatory-inhibitory balance.