Steven A. McCarroll

This study shows that somatic DNA-repeat expansions in cortical and striatal neurons of Huntington's disease initiate similar pathological changes, but lead to distinct gene expression outcomes.

The paper identifies sibling-derived chimerism in microglia and macrophages across marmoset tissues using single-cell RNA-seq, showing hematopoietic origin and regional variation in brain microglia.

The paper performs rare variant association analysis using whole-genome sequencing data from the Portuguese Island Collection to identify shared genetic pathways in schizophrenia and bipolar disorder.

This study creates a multi-omic atlas of brain aging in African turquoise killifish, identifying glucocorticoid signaling activation as a key feature of aging and showing its inhibition can reverse aging phenotypes.

The paper examines how human genetic and environmental factors influence viral DNA load in blood and saliva, identifying genetic loci and alleles associated with specific viruses and their health impacts.

The paper analyzes single-nucleus RNA-seq data from the human striatum and prefrontal cortex to study inter-individual variation in cell abundances and gene expression, finding age-related changes and genetic associations.

The paper maps a mesoscale molecular architecture of the human striatum across cell types and age, revealing zonal differences in gene expression and aging effects.

The paper identifies 11 human genetic loci associated with oral microbiome composition and host-microbial interactions linked to tooth decay.

The paper introduces SOCAM, a supervised cell annotation method that enforces ontological consistency and improves performance using a probability propagation strategy and logistic regression model.

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

The paper uses village editing to study how genetic backgrounds affect the impact of schizophrenia-associated mutations in human neurons.

The paper integrates genetic, transcriptomic, and structural data to show that Ca2+ dysregulation via ATP2B2 missense variants contributes to neuropsychiatric disorders.

The paper identifies chr22q as a regulatory hub where genetic risk for neuropsychiatric conditions is associated with coordinated gene expression downregulation in brain tissue.

The paper compares distractibility between marmosets and macaques in cognitive tasks and links it to dopamine D1 receptor expression in prefrontal parvalbumin neurons.

The paper identifies genetic variants that influence neuronal responses to interferons by analyzing gene expression and STAT1 binding in iPSC-derived neurons.

The paper introduces TRADE, a statistical framework to detect transcriptome-wide differential expression effects from noisy Perturb-seq data, showing that many true effects are not statistically significant but detectable in aggregate.

The paper shows that astrocyte-supplied cholesterol drives synaptic gene expression in neurons and induces astrocytic transcriptional responses, linking lipid metabolism to neurodevelopmental disorders.

This study shows that calcium-permeable AMPA receptors (CP-AMPARs) in PV interneurons reduce their feature selectivity, and removing them increases selectivity in visual cortex and hippocampus.

The paper identifies cell type-specific molecular changes in ALS patients, showing enrichment of genetic risk factors in extratelencephalic neurons and altered responses in oligodendrocytes and microglia.

This study shows that kynurenic acid (KYNA) and its enzyme KAT II expand in primate dlPFC, impairing cognitive functions by affecting NMDA and nic-7Rs, and suggests targeting KYNA as a therapeutic approach for neuroinflammatory disorders.

The paper shows that HTT CAG repeats expand in striatal neurons over time, leading to gene expression changes and neurodegeneration in Huntington disease.

The paper investigates the role of CSMD1 in opposing the complement cascade in neural tissues and links its dysfunction to schizophrenia risk.

CellCap models the relationship between cell state and perturbation response in single-cell experiments, revealing novel insights into cellular behavior.

The paper identifies a neuron-astrocyte gene expression program, SNAP, that declines in aging and schizophrenia, linking it to cognitive function and genetic risk factors.

This study identifies genetic variants associated with cellular morphology using high-content imaging and genomic data from iPSCs.

The paper analyzes single-nucleus RNA sequencing data from marmoset brain cells to show that neuronal identity is more influenced by developmental origin than functional class.

This study uses single nucleus transcriptomics to compare human and non-human primate cortical tissues, identifying human-specific gene expression patterns and their potential functional roles.

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

The paper identifies protein-altering structural variants in UK Biobank data and finds associations with various quantitative traits, including hypertension and type 2 diabetes risk.

This study develops a rapid, scalable method to generate functional human astrocytes from pluripotent stem cells using NGN2 induction, showing high homogeneity and disease relevance.