Iván Rodríguez-Nunez

The paper introduces a standardized iPSC-derived microglia model to study transcriptional regulatory networks in CNS diseases and identifies disease-associated genetic variants.

This study shows that long-read genome sequencing improves diagnostic yield for neurodevelopmental disorders by identifying variants missed by short-read sequencing.

The paper identifies DNA variants with allele bias in TF binding across human brain regions, linking them to eQTLs and providing insights into gene regulation effects of common and rare variation.

The paper generates a multi-omic resource of TF binding maps in human brain tissues and links TF activities to neuropsychiatric disorder risk variants.

The paper identifies cis-regulatory elements (cCREs) controlling MAPT expression and links genetic variation in these elements to Alzheimer's disease risk.

This study analyzes the seven-chain adaptive immune receptor repertoire in rheumatoid arthritis, identifying disease associations and treatment response markers through immunosequencing and HLA integration.