Tiia Reimand

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.

The paper evaluates long indel detection in exome sequencing data from intellectual disability patients, identifying three pathogenic indels and highlighting the importance of accurate variant calling.