Dalila Pinto

DNA Methylation and Proteomic Profiling of Postmortem Brain Tissue Reveals Epigenetic Dysregulation and Neuroinflammatory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)

This study identifies epigenetic and proteomic changes in FXTAS brains, linking DNA methylation and inflammation to neurodegeneration.

Three immunoregulatory signatures define non-productive HIV infection in CD4+ T memory stem cells

This study identifies three immunoregulatory signatures in non-productive HIV-infected CD4+ T memory stem cells, highlighting their distinct transcriptomic profile and potential role in immune evasion.

The impact of common variants on gene expression in the human brain: from RNA to protein to schizophrenia risk

The paper identifies eQTLs, rQTLs, and pQTLs in the human brain and shows that many eQTL effects are attenuated post-transcriptionally, yet still correlate with schizophrenia GWAS signals.

Evaluating performance and applications of sample-wise cell deconvolution methods on human brain transcriptomic data

The paper evaluates deconvolution methods on human brain data, finding dtangle and bMIND perform best, and identifies decon-eQTLs that explain more schizophrenia heritability than bulk or single-cell eQTLs.

Integrated transcriptomic analysis of human induced pluripotent stem cell-derived osteogenic differentiation reveals a regulatory role of KLF16

The paper identifies KLF16 as an inhibitory regulator of osteogenic differentiation through transcriptomic analysis of human iPSC-derived cells and in vivo validation.

Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.

Cell type-specific isolation and transcriptomic profiling informs glial pathology in human temporal lobe epilepsy

The paper isolates and profiles cell types in human TLE samples, revealing dysregulated pathways and an immature glial phenotype.

Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

The paper introduces a Bayesian framework to prioritize risk genes for complex diseases by integrating gene-set information with variant counts, identifying novel epilepsy risk genes and linking them to immune pathways and drug targets.

mTADA: a framework for analyzing de novo mutations in multiple traits

mTADA jointly analyzes de novo mutation data from multiple neuropsychiatric disorders to identify shared and specific risk genes.

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

The paper uses Bayesian modeling to analyze rare exonic variants in schizophrenia and neurodevelopmental disorders, identifying 1,551 risk genes for schizophrenia and 98 new risk genes for developmental disorders.

Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

The paper integrates GWAS and conditional eQTL data to identify schizophrenia risk loci with co-localization, finding 40 loci and six with conditional eQTL co-localization.

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

This study identifies eight genome-wide significant CNV loci associated with schizophrenia using a large cohort of 41,321 subjects.

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

The paper uses gene expression data from schizophrenia cases and controls to show that common variants at 20% of schizophrenia risk loci regulate brain gene expression, with functional impacts on neural progenitor cells and zebrafish neuroanatomy.