Małgorzata Borczyk

Causal inference for multiple risk factors and diseases from genomics data

The paper introduces CI-GWAS, a method to improve causal inference in GWAS by addressing confounding and pleiotropy, finding few suitable IVs and replicating some but not all previously reported causal links.

preSCRIPT: Large-scale prescription search and annotation engine for pharmacogenomic studies

preSCRIPT filters and annotates prescription data from UK Biobank to derive drug response phenotypes, replicating known PGx associations and identifying novel candidates.

Risperidone regulates the expression of schizophrenia-related genes in the murine forebrain

This study shows risperidone alters gene expression in specific brain regions of mice, with 21 of the affected genes linked to schizophrenia.

Separating the genetics of disease, treatment and treatment response using graphical modeling and large-scale electronic health records.

The paper uses graphical modeling on electronic health records to separate genetic effects on disease, treatment, and treatment response in large-scale biobank data.

μ-Opioid receptor transcriptional variants in the murine forebrain and spinal cord

The paper identifies a long 3' untranslated region in the primary Oprm1 transcript in mice, with additional variants expressed at lower levels.

PharmGScore scores of compound genetic variant burden for psychiatric treatment optimization

This paper introduces PharmGScore, a genetic variant burden scoring system for antidepressant response, showing it outperforms existing methods and identifies gene associations with antidepressant toxicity.

Phosphorylation of PSD-95 at Serine 73 in dCA1 is required for extinction of contextual fear

This study identifies phosphorylation of PSD-95 at Serine 73 in dCA1 as necessary for extinction of contextual fear memory.

Downregulation of dystrophin expression occurs across diverse tumors, correlates with the age of onset, staging, and reduced survival of patients.

This study shows that dystrophin expression is downregulated in many tumors, linked to advanced stages, older age of onset, and poorer survival.

Oligogenic risk model for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders

The paper constructs an oligogenic risk model for tic disorders using whole-genome sequencing data, revealing a genetic continuum from healthy individuals to severe Gilles de la Tourette syndrome cases.

Effects of L-DOPA on gene expression in the frontal cortex of rats with unilateral lesion of midbrain dopaminergic neurons

This study examines how L-DOPA affects gene expression in the frontal cortex of rats with unilateral dopaminergic lesions, identifying bilateral gene expression changes and non-specific drug effects.

Synaptic plasticity regulated by phosphorylation of PSD-95 Serine 73 in dorsal CA1 is required for contextual fear extinction

This study shows that phosphorylation of PSD-95 at serine 73 is required for contextual fear extinction but not for fear memory formation or recall.

Contribution of PSD-95 protein to reward location memory

This study shows that PSD-95 downregulation and its phosphorylation by CaMKII are critical for reward location memory in young mice, but alternative mechanisms support memory in aged mice.