Stavit Allon Shalev

The paper analyzes ROH distribution in consanguineous populations and suggests pre-pregnancy genetic counseling to assess recessive disorder risks.

This study investigates a homozygous frameshift variant in the COCH gene, showing it causes loss-of-function through reduced cochlin translation, impacting genetic counseling for carriers.

The paper identifies a missense variant in HSF2BP linked to POI, showing it impairs meiotic recombination by affecting its interaction with MIDAP and reducing recombinase activity.

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.