Kalliopi Tsafou

Using brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

Interaction studies of risk proteins in human induced neurons reveal convergent biology and novel mechanisms underlying autism spectrum disorders

The paper identifies a protein-protein interaction network in human excitatory neurons for 13 ASD risk genes, revealing novel interactions and convergent mechanisms contributing to autism spectrum disorders.

Cell-type specific developmental defects in PTEN-mutant cortical organoids converge on abnormal circuit activity

The paper investigates how PTEN heterozygous mutations affect different cell types in human cortical organoids and shows that these effects lead to abnormal circuit activity regardless of genetic background.

Human brain organoids reveal accelerated development of cortical neuron classes as a shared feature of autism risk genes

This study uses human brain organoids to show that ASD risk genes cause accelerated development of specific cortical neuron classes.

Comprehensive comparison of large-scale tissue expression datasets

This study compares large-scale tissue expression datasets and finds they agree well, supporting tissue-specific and ubiquitous expression distinctions, and introduces a resource for integrated data access.

DISEASES: Text mining and data integration of disease–gene associations

The paper presents a text-mining system for extracting disease-gene associations from biomedical abstracts and integrates these with curated data to create the DISEASES resource.