Hila Fridman

The paper examines reproductive and cognitive effects in carriers of recessive pathogenic variants using UK Biobank data, finding fitness effects and reduced cognition in carriers of intellectual disability-associated genes.

The paper analyzes genome-wide data from medieval German Jews to show the Ashkenazi founder event occurred before the 14th century, with genetic heterogeneity not present in modern Ashkenazi Jews.

The paper estimates carrier rates and risk of severe autosomal recessive disorders in European populations using exome sequences.

This study compares exome-sequencing and Sanger-sequencing for variant detection across 258 genes, finding high concordance and similar performance between methods.