Hagar Mor‐Shaked

SeverYX is an ensemble framework that classifies genetic variants into severity tiers, achieving high concordance with ClinVar and improving predictive accuracy through threshold optimization and additional predictors.

This study uses exome sequencing to identify genetic variants in the Mexican Jewish Community, finding higher rates of carrier status and novel alleles compared to standard panels.

This study identifies a pathogenic GFM2 intronic duplication causing mitochondrial disease and shows that splice-switching oligonucleotides can rescue splicing defects and restore mitochondrial function in patient-derived cells.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.