Patricia G. Santamarı́a

This paper identifies a chromosomal instability (CIN) biomarker that predicts response to PORCN inhibitors in cancers, validated through in vitro models, cell lines, and patient data.

The paper shows that microglia use Rank signaling to regulate GnRH function and the HPG axis, leading to hypogonadotropic hypogonadism when disrupted.

This paper develops a computational framework using single-cell whole-genome sequencing to identify ongoing chromosomal instability, showing its utility in cancer models and clinical samples.