Jay A. Tischfield

This study identifies AUD-associated and ethanol-responsive proteins in human cortical organoids and finds candidate biomarkers linked to AUD and ethanol exposure.

This study identifies 19 differentially expressed genes in whole-blood transcriptome profiles of Tourette Disorder patients, achieving high classification accuracy using machine learning models.

This study examines how polygenic risk scores for Alcohol Use Disorder affect microglial responses to ethanol exposure in human iPSC-derived microglia.

The paper uses multiomic profiling of the caudate nucleus to identify gene expression and chromatin changes in AUD, linking them to risk genes through QTL analysis.

The paper generates mouse models with human mutations in TD genes, showing sensorimotor and reward learning phenotypes, dopamine changes, and sex-specific effects.

The paper investigates how upregulated GIRK2 affects ethanol-induced changes in human neurons, showing it counteracts excitability and respiration changes.

The paper identifies functional 3'-UTR variants linked to alcohol use disorder and related traits using MPRA and GWAS integration.

The paper examines how genetic variants in the cholinergic system affect theta band event-related oscillations, finding age and sex-dependent variations in these associations.

This study shows that KCNJ6 noncoding variants increase excitability in human glutamatergic neurons, an effect reversed by ethanol exposure.

This study shows a CELSR3 mutation linked to Tourette disorder alters dendritic patterning and excitability of cholinergic interneurons in mice without overt behavioral symptoms.

This study identifies two novel genetic loci associated with Tourette Syndrome through a genome-wide meta-analysis and integrates functional data to implicate specific genes.

The paper integrates GWAS data with multi-omics datasets to identify novel genes for alcohol use disorder and link them to neurodegenerative diseases.

The paper investigates gene-environment interactions related to tic severity by analyzing SNPs from GWASs of Tourette syndrome and related disorders in interaction with pre- and perinatal adversity.

The paper investigates how polygenic risk scores and environmental factors contribute to tic occurrence in a cohort study, finding additive and mediated effects.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

The paper analyzes 3D structural changes in SARS-CoV-2 proteins during the first six months of the pandemic, showing amino acid substitutions primarily affect surfaces and boundary layers.

This study examines how the N40D variant of the mu-opioid receptor affects synaptic function in human neurons, showing variant-specific effects on inhibitory transmission.

The paper identifies functional variants in human brains with alcohol use disorders by combining allele-specific expression analysis with high-throughput reporter assays.

This study identifies SirT7's dual role as a deacetylase and mADPRT enzyme, showing its regulation of glucose starvation response via interaction with macroH2A1.1.

The paper identifies 129 differentially expressed genes in the PFC of alcoholics and links them to pathways and modules associated with alcohol dependence and consumption.