Ephrat Levy‐Lahad

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 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.

This study identifies genetic loci contributing to height variation in a Jewish population cohort, explaining 6% of the variance through rare variants.