Aleksandar Rajkovic

The paper introduces the Intolerome Database, a curated resource of genes essential for human viability, to help prioritize genomic variants in cases of stillbirth, pregnancy loss, and neonatal death.

This paper updates the phase 2 results of a multisite study evaluating optical genome mapping (OGM) as a prenatal diagnostic tool, showing high accuracy and clinical utility.

The paper identifies 138 genes and variants associated with prenatal lethality across ethnic groups, suggesting preconception screening could identify couples at risk for miscarriage.

The paper evaluates optical genome mapping as a prenatal diagnostic tool, showing 100% concordance with standard methods across multiple sites and operators.

The paper uses single-cell RNA sequencing to analyze uterine myometrium and leiomyomas, revealing novel cell types and non-monoclonal origins of leiomyomas.

The paper investigates SARS-CoV2 receptor expression in female reproductive tissues and finds no significant ACE2 or TMPRSS2 expression, suggesting low susceptibility to infection.

The paper analyzes chromosomal abnormalities in pregnancy loss samples to identify genetic mechanisms contributing to recurrent pregnancy loss.

The paper identifies novel essential gene candidates by analyzing human embryonic gene expression and integrating it with mouse knockout data and evolutionary conservation.