Rosario I. Corona

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

chromMAGMA identifies candidate risk genes for epithelial ovarian cancer by mapping risk variants to noncoding regulatory elements, revealing new genes and pathways involved in the disease.

This study uses single-cell transcriptomics to identify gene expression networks in the human fallopian tube, revealing epithelial subtypes and their role in cancer progression.

The paper identifies RCCD1 as a susceptibility gene for breast and ovarian cancer by fine-mapping a risk locus and showing its expression and interaction patterns are associated with cancer risk.

This paper introduces RPL, a method to identify RNA-proximal proteins in human cells using CRISPR-Cas13b and APEX2, revealing new insights into RNA interactions and subcellular localization.

The paper uses transcriptomic and epigenomic profiling to show that high-grade serous ovarian cancers predominantly originate from fallopian tube secretory epithelial cells, with distinct transcription factors driving tumorigenesis based on cell-of-origin.