Laura Gail Sloofman

The paper introduces a framework to infer de novo exonic variants without parental genotypes, enhancing autism association studies by improving gene-based tests and controlling false discovery rates.

MIRAGE improves rare variant association analysis by incorporating variant functional information, outperforming existing methods in simulations and autism exome-sequencing data.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

This study examines the transient blood transcriptomic changes in children with ADNP syndrome following ketamine treatment, revealing acute immune-related gene expression alterations that revert to baseline within a week.

The paper examines RNA editing changes during human cortical development, identifying expansion of editing sites and their genetic regulation linked to neurological disorders.

The paper develops a proximity proteomics method in mice to identify protein interactions relevant to autism, revealing new genetic risk factors and functional interactions.

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

This study uses transcriptomic imputation to translate AN GWAS findings into gene expression associations, revealing 47 genes linked to AN and their clinical consequences in a biobank cohort.

The paper identifies acetylated chromatin domains associated with dysfunction in schizophrenia and bipolar disorder by analyzing histone modifications in prefrontal cortex samples.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.

The paper identifies SNRNP35 as a trauma type-specific PTSD gene through analysis of genetically regulated gene expression in PTSD cases and controls.

The paper presents a draft genome assembly of the alkali bee and identifies genes under selection and population genetic patterns.

The paper identifies conserved neurogenomic response toolkits across species using multi-species transcriptomic analysis and systems-level functional grouping.

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.