Laura M. Huckins

Convergent and divergent phenotypic impacts of estradiol on neurodevelopmental disorder risk genes

The paper evaluates estradiol's effects on ASD/NDD genes using human neurons and zebrafish, finding both convergent transcriptomic effects and gene-specific cellular and behavioral rescue.

Dynamic neuro-immune regulation of psychiatric risk loci in human neurons

The paper investigates how maternal and fetal immune activation interacts with genetic risk profiles to influence neuronal regulatory activity and psychiatric traits.

Single-nucleus epigenomic dysregulation unmasks genetic risk-associated neurodegenerative glia states

The paper identifies glial cell-specific regulatory elements and genetic risk modifiers in tau-related dementias using single-nucleus epigenomic profiling.

Mechanical stretch disrupts calcium dynamics and redistributes Piezo1 in human astrocytes

This study uses a 2D stretch injury model to show that mechanical stretch disrupts calcium dynamics, mitochondrial function, and Piezo1 distribution in human astrocytes, with temporary effects at moderate injury severity.

A computational genetic- and transcriptomics-based study nominates drug repurposing candidates for the treatment of chronic pain

This paper identifies drug repurposing candidates for chronic pain using genetics and transcriptomics, finding drugs with opposing gene expression effects to the disease.

Regulatory landscape of Alzheimer's disease variants in human microglia

The paper identifies regulatory variants associated with Alzheimer's disease in human microglia using MPRA and highlights differences in variant activity between cell sources.

Polygenicity at the pathway level for anorexia nervosa

This study identifies pathway-level polygenicity in anorexia nervosa by constructing pathway-based polygenic risk scores and finding 497 associated pathways.

The impact of chronic pain on brain gene expression

The paper identifies gene expression changes in brain regions associated with chronic pain, highlighting BLA microglia as a key cell type and finding distinct gene expression patterns compared to other pain-related traits.

Evaluation of imputation performance of multiple reference panels in a Pakistani population

This study evaluates imputation performance of reference panels in a Pakistani population, finding that ex1KG outperforms TOPMed despite its smaller size.

BMI Interacts with the Genome to Regulate Gene Expression Globally, with Emphasis in the Brain and Gut

The paper identifies BMI-dynamic gene expression loci in the brain and gut, showing how BMI interacts with genetic variants to influence gene expression and disease-related pathways.

Chronic Overlapping Pain Conditions and Nociplastic Pain

The paper identifies genetic variants and pathways associated with nociplastic type pain using GWAS and TWAS analyses of chronic overlapping pain conditions.

Decoding the transcriptomic signatures of psychological trauma in human cortex and amygdala

The paper investigates transcriptional signatures of trauma in human brain regions using RNA-seq data from 304 donors, identifying differential vulnerability of cortical and amygdala regions to different trauma types.

Dynamic convergence of neurodevelopmental disorder risk genes across neurodevelopment

This study identifies convergent biological pathways in mature neurons affected by neurodevelopmental disorder risk genes and shows drug candidates can ameliorate behavioral phenotypes.

Genomic insights into the comorbidity between type 2 diabetes and schizophrenia.

This study investigates the genetic relationship between type 2 diabetes and schizophrenia, finding no strong causal link but identifying shared genomic loci and biological pathways.

Common genetic variation impacts molecular stress response in the brain

The paper identifies stress-interactive eQTLs that dysregulate gene expression in the brain under stress, uncovering novel genes linked to brain disorder risk in traumatic stress contexts.

Transcriptional signatures of heroin intake and seeking throughout the brain reward circuit

This study identifies transcriptional changes in the brain reward circuit across heroin exposure and seeking behaviors in mice, revealing molecular mechanisms and potential therapeutic targets for opioid use disorder.

Title: Leveraging Base Pair Mammalian Constraint to Understand Genetic Variation and Human Disease

The paper uses evolutionary constraint scores to identify functional genomic regions and finds they are enriched for variants associated with common diseases.

Non-additive effects of schizophrenia risk genes reflect convergent downstream function

The paper shows that non-additive effects of schizophrenia risk genes are due to convergent downstream transcriptomic effects and sub-additive changes, suggesting functional redundancy as a mechanism for non-additivity.

Chronic pain gene expression changes in the brain and relationships with clinical traits

The paper uses transcriptomic imputation to identify gene expression changes in brain tissues and blood linked to chronic pain and finds associations with clinical traits.

Exploring the clinical consequences and genetic aetiology of adult weight trajectories

This study examines the genetic and clinical associations of adult weight trajectories using EHR data, identifying disease links and genetic risk factors for weight patterns.

The Phenome-wide Consequences of Anorexia Nervosa Genes

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.

Convergent and non-additive impact of schizophrenia risk genes in human neurons

This study shows that schizophrenia risk genes have convergent and non-additive transcriptomic effects when perturbed together in human neurons, suggesting functional redundancy and complex interactions.

Comparison of confound adjustment methods in the construction of gene co-expression networks

This study compares confound adjustment methods for gene co-expression network construction and finds that different methods significantly affect network architecture.

Rare schizophrenia risk variant burden is conserved in diverse human populations

The paper investigates the conservation of rare schizophrenia risk variants across diverse populations and finds consistent burden in constrained genes.

Induction of Dopaminergic Neurons for Neuronal Subtype-Specific Modeling of Psychiatric Disease Risk

This study develops a method to efficiently generate dopaminergic neurons from hiPSCs and shows they model psychiatric disease risk genes.

Identifying Nootropic Drug Targets via Large-Scale Cognitive GWAS and Transcriptomics

This paper identifies potential nootropic drug targets by integrating large-scale cognitive GWAS and transcriptomic data to find credible druggable genes.

Genome-wide association study of over 40,000 bipolar disorder cases provides new insights into the underlying biology

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.

Examining sex-differentiated genetic effects across neuropsychiatric and behavioral traits

The paper examines sex-differentiated genetic effects across neuropsychiatric and behavioral traits using GWAS summary statistics and finds small, polygenic sex differences with enriched neuron-related genes.

Polygenic regulation of PTSD severity and outcomes among World Trade Center responders

The paper examines polygenic risk scores for PTSD severity and chronicity in World Trade Center responders, finding significant genetic contributions and associations with brain imaging phenotypes.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

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.