Steven A. McCarroll

The paper analyzes gene regulatory programs in the neocortex of rodents and primates using single-cell multiomics, finding rapid evolution of cell type-specific gene expression and TE-driven cCREs.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

The paper shows that astrocyte-neuron interactions enhance synaptic gene expression in neurons and correlate with schizophrenia risk genes.

This study combines Ngn2 overexpression with small molecule patterning to efficiently generate lower induced Motor Neurons (liMoNes) from hPSCs, achieving high yields and functional characteristics.

The paper introduces SBARRO, a method that maps synaptic connections and RNA expression in neurons using barcoded rabies virus and single-cell RNA sequencing, revealing cell-type-specific synaptic networks in mouse brain cells.

The paper identifies non-coding VNTRs associated with glaucoma and colorectal cancer risk using UK Biobank data and statistical imputation.

This study compares mitogenome and mtDNA control region markers to determine the ancestry and diversity of captive Callithrix jacchus marmosets, finding mitogenomes provide better resolved phylogenies.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

The paper identifies a common genetic variant in IFITM3 that explains most inter-individual variation in neural progenitor cell susceptibility to Zika virus using natural genetic variation and synthetic perturbations.

The paper compares cellular diversity in the primary motor cortex across human, marmoset, and mouse using single-nucleus transcriptomics and epigenomics, finding conserved cell types and species-specific adaptations.

The paper generates a multimodal cell census and atlas of the mammalian primary motor cortex, revealing a unified molecular genetic landscape and cross-species taxonomy of cell types.

The paper estimates VNTR lengths from whole-exome sequencing data and identifies associations between VNTRs and human phenotypes, finding strong effects on traits like height and lipoprotein(a).

This study evaluates the prognostic value of polygenic risk scores for schizophrenia and finds they do not improve outcome prediction beyond clinical features.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

This study performs whole genome sequencing of human embryonic stem cells to identify genetic variants and provides resources for cell line selection.

This study identifies ATP1A3 variants in children with polymicrogyria and maps ATP1A3 expression patterns in human neocortex development using single-cell RNA sequencing.

The paper profiles interneurons in primates and rodents to identify evolutionary innovations in brain cell types and their molecular features.

The paper identifies dispersed duplications and de novo structural mutations using whole-genome sequencing data from 706 families by analyzing IBD relationships and copy number variations.

Census-seq pools cells from >100 human donors into "cell villages" and quantifies donor DNA before and after selection to map genetic effects on cellular traits.

The paper identifies inherited and acquired genetic variants that increase susceptibility to clonal hematopoiesis by influencing clonal selection through monogenic and polygenic mechanisms.

The paper presents twelve hiPSC lines with extreme polygenic risk scores for schizophrenia, available for CRISPR-based functional studies.

This study identifies schizophrenia genetic associations in East Asian and European populations, finding similar genetic effects across ancestries but highlighting challenges in polygenic risk prediction across groups.

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

This study analyzes genomic mutations in clonal hematopoiesis across 179,417 Japanese individuals, revealing population-specific patterns and differences in cancer risk.

The paper analyzes 31,228 human sperm genomes to study meiotic variation, finding differences in aneuploidy rates and crossover patterns across donors and gametes.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

The paper identifies genetic determinants of mosaic Y chromosome loss in blood and links it to genomic instability and non-haematological cancer risk.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

The study finds that rare copy number variants (CNVs) contribute to bipolar disorder risk primarily in schizoaffective disorder bipolar type cases, with differences in CNV burden and schizophrenia polygenic risk scores between subtypes.