Iván Rodríguez-Nunez

KOLF2.1J iTF-Microglia: A standardized platform to studymicroglial transcriptional regulatory networks in CNS disease

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

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

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

Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs

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.

Extensive profiling of transcription factors in postmortem brains defines genomic occupancy in disease-relevant cell types and links TF activities to neuropsychiatric disorders

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

MAPT expression is mediated by long-range interactions with cis-regulatory elements

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

Single nucleus multiomics identifies ZEB1 and MAFB as candidate regulators of Alzheimer's disease-specific cis regulatory elements.

Seven chain adaptive immune receptor repertoire analysis in rheumatoid arthritis: association to disease and clinically relevant phenotypes

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.