Paola Giusti‐Rodríguez

The paper identifies and functionally characterizes TAD-boundary-disrupting ultra-rare structural variants in schizophrenia using CRISPR/Cas9 in iPSCs, showing cell-type-specific effects on 3D-genome organization and gene expression.

MarkerMatch improves CNV detection sensitivity across genotyping arrays by matching probes based on proximity, outperforming consensus probe methods.

This study identifies hundreds of new cis-regulatory element-gene connections in the MHC locus using CRISPR screens and single-cell transcriptomics, revealing cell type-specific regulatory mechanisms.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

This study integrates genetic analysis with single nucleus RNA-seq to identify cell-type specific transcriptomic perturbations in schizophrenia, highlighting mitochondrial dysfunction and protein modification as key factors.

SnapHiC-G identifies long-range enhancer-promoter interactions from scHi-C data using a global background model, showing high sensitivity and cell-type-specific enrichment of neuropsychiatric disease SNPs.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

This paper compares eight ST deconvolution methods using four real datasets to evaluate their performance in inferring cell type composition from spatial transcriptomics data.

THUNDER is a deconvolution method that infers cell type proportions from bulk Hi-C data, outperforming existing methods in accuracy.

This study identifies sex-dependent genetic risk loci shared and specific to mood and psychotic disorders using genome-wide interaction analysis.

The paper compares ten polygenic score methods for psychiatric disorders across multiple cohorts, finding that some methods significantly improve prediction statistics over the baseline PC+T method.

The paper uses Bayesian modeling to analyze XCI skew in genetically diverse mice, identifying a novel Xce allele linked to copy number changes.

This study identifies genetic factors influencing antipsychotic-induced adverse reactions in mice using RIX lines, finding strong strain and treatment interactions for behavioral phenotypes.

This study identifies cell types associated with brain complex traits using GWAS and single-cell transcriptomics, revealing novel roles for oligodendrocytes in Parkinson's disease.

The paper estimates genetic correlations between eating disorder and substance-use-related phenotypes using GWAS data, finding both positive and negative associations.

The paper develops an improved Hi-C protocol and bias-correction pipeline to map chromatin loops in human neurogenesis and brain tissues, showing their role in neural differentiation and GWAS gene identification.

Hi-C maps of adult and fetal cortex, with matched RNA-seq, ATAC-seq and ChIP-seq, connect 938 GWAS loci for brain traits to 8,595 candidate genes.

This study identifies genome-wide significant associations near FMR1 with Fragile X Syndrome in males, highlighting the complexity of monogenetic disorders.

The paper finds a genetic association between schizophrenia risk and age at first birth in women, with different genetic correlations in younger and older age groups.

The paper maps schizophrenia-associated genomic loci to specific brain cell types using single-cell RNA-sequencing data, finding consistent enrichment in pyramidal cells, medium spiny neurons, and interneurons.

This study compares LDSC and GREML methods for estimating genetic correlation, showing GREML provides higher accuracy, especially in the presence of genetic heterogeneity.

Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.

The paper evaluates chromatin accessibility in prefrontal cortex samples from schizophrenia cases and controls, finding high heritability enrichment in open chromatin regions but no differential accessibility between groups.