Stefan Rentas

Expanding reproductive genetic screening through the inclusion of perinatal treatability

The paper evaluates a reproductive genetic screening framework that includes genes with perinatal intervention potential, finding an individual-level number-needed-to-screen of 3.20 using gnomAD and 3.62 using All of Us.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA-sequencing

The paper demonstrates that RNA-seq of B lymphoblastoid cell lines can effectively diagnose neurodevelopmental disorders, including Cornelia de Lange syndrome, with high sensitivity.

Double-strand breaks are not the main cause of spontaneous sister chromatid exchange in wild-type yeast cells

This study uses Strand-seq to show that most spontaneous sister chromatid exchanges in yeast are not caused by DNA double-strand breaks.