Luis de la Torre-Ubieta

scRBP infers cell-specific RNA-binding protein regulons from single-cell transcriptomes, resolving targets at gene and isoform levels and linking genetic risk to disease.

This study identifies three functional programs impacted by autism genes, contextualized across neuronal subclasses, developmental timing, and cortical regions.

This paper identifies that truncating variants in KAT6A cause two distinct neurodevelopmental disorders with opposing gene regulatory and metabolic effects, highlighting the need for variant-level stratification in therapy development.

This study uses single-nucleus multi-omics to analyze the developing Down syndrome neocortex, identifying dysregulated molecular and gene-regulatory mechanisms affecting neurogenesis and cell specification.

The paper identifies cell-type-specific genetic regulation of RNA-editing and alternative polyadenylation in human neural progenitors and neurons, linking these to brain-related traits.

The paper identifies extensive isoform diversity in the developing human neocortex and links it to neuropsychiatric disorder risk mechanisms.

This study shows KAT6A mutations cause transcriptional dysregulation of cell cycle and autism risk genes in cerebral organoids, leading to delayed neural differentiation and altered gene expression patterns.

The paper identifies miRNA-eQTLs in human neocortical tissue, linking miR-4707-3p expression to brain size and educational attainment through colocalization with GWAS data.

The paper identifies cell-type specific effects of genetic variation on chromatin accessibility during human neuronal differentiation and links these to regulatory mechanisms of neuropsychiatric disorder risk variants.

The paper investigates the role of the complement system and C4A in schizophrenia by analyzing gene co-expression networks and finds that synaptic pathways, not the complement system, are linked to schizophrenia risk.

The paper identifies cell-type specific regulatory mechanisms in human neural progenitors and their neuronal progeny that influence brain-relevant traits, revealing loci not detected in bulk tissue.

The paper links genetic risks to spatial brain vulnerabilities in neurodevelopmental disorders using neuroimaging and gene expression data.

The paper characterizes genetic control of gene expression and splicing in developing human brains using eQTL and sQTL analysis, identifying novel regulatory regions and links to neuropsychiatric disorders.

The paper defines single cell transcriptomic profiles of 40,000 human neocortical cells to identify cell types, developmental trajectories, and disease-related gene expression.