Nana Matoba

The paper assesses regulatory activity of cortical structure-associated variants using MPRA in human neural progenitor cells, identifying 918 variants with regulatory potential and showing condition-dependent effects.

This study identifies molecular layer heterotopias and age-dependent cortical expansion in Chd8 haploinsufficient mice, linking them to neuronal migration defects and autism-related brain overgrowth.

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 exposes human neural progenitors to valproic acid and lithium, identifying gene by treatment interactions linked to psychiatric disorder risk and folate metabolism.

This paper introduces a method to classify gene-by-treatment interactions using Bayesian model selection and applies it to molecular count phenotypes with a software package.

The paper links early cell cycle gene expression in cortical organoids to interindividual variability in infant brain growth trajectories.

This study shows that human cortical organoids generated across multiple sites using a harmonized protocol consistently produce similar cell types and structures, though with some site-specific differences in size and stress markers.

The paper constructs a cross-ancestry, cell-type-informed gene regulatory atlas of the developing human brain, identifying genetic regulation and linking it to neuropsychiatric disorders.

The paper identifies context-specific genetic effects on gene regulation in neural progenitors by stimulating the Wnt pathway and analyzing chromatin accessibility and gene expression.

The paper identifies a genetic locus on chr3p21.1 associated with lithium-induced neural progenitor proliferation and links it to bipolar disorder risk through the gene GNL3.

The paper identifies trans-eQTLs in the human prefrontal cortex and links them to schizophrenia risk genes, showing their role in disease mechanisms.

This study identifies common genetic variants influencing intrinsic brain networks using rsfMRI data from 44,190 individuals, finding associations with cognitive and clinical traits.

The paper infers cell-type specific imprinted regulatory elements and genes during human neuronal differentiation using allelic bias analysis in chromatin accessibility and gene expression.

This study conducts a large-scale GWAS of food liking in 161,625 UK Biobank participants, identifying 1401 associations and revealing genetic correlations with brain traits.

MRLocus estimates gene-to-trait mediation effects using Bayesian methods on eQTL and GWAS data, showing high accuracy and better uncertainty estimation in simulations and real applications.

The paper compares polygenicity and discoverability of brain structure traits and neuropsychiatric disorders to test if brain structure traits are better endophenotypes.

The paper analyzes HHV-6 integration in human genomes, identifies co-evolution with chr22q, and reports evidence of in vivo excision and reactivation.

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

This study uses polygenic risk scores from three biobanks to show that genetic susceptibility to traits like high blood pressure and obesity is associated with shorter lifespan.