Priti Singh

The paper evaluates the functional impact of missense variants in human reproductive genes using mouse models and finds that many predicted pathogenic variants do not cause detectable phenotypes.

The paper identifies MLH1/3 variants in mice that cause reproductive defects, including subfertility and increased pregnancy loss due to meiotic abnormalities.

The paper identifies two RABL2A variants causing male infertility and ciliopathies by combining in silico predictions, protein stability assays, and mouse modeling.

This study shows that CDK2 kinase activity regulates male germ cell fate by controlling the balance between stem cell renewal and differentiation, with loss of function leading to infertility.