Aloysius Domingo

This paper uses a deep learning model to identify genetic variants associated with isolated focal dystonia by leveraging neuroimaging endophenotypes.

The paper identifies structural vulnerabilities in ATP1A3 variants that lead to distinct neurological phenotypes through different mechanistic consequences.

This study uses single-cell RNA sequencing and TCR profiling to analyze immune changes in Parkinson's disease across different stages and identifies sex-dependent immune alterations and TCR diversity.

The paper identifies WAPL as a novel cohesinopathy gene and driver of a genomic disorder, showing its role in developmental delay and other anomalies through clinical, in vitro, and in vivo analyses.

The paper identifies integrated stress response (ISR) signatures and proteostasis defects in monocytes from GBA1- and LRRK2-linked Parkinson's disease, linking them to immune dysfunction.

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

The paper investigates how dystonia-specific mutations in THAP1 affect gene transcription related to neurodevelopment and myelin in iPSC-derived neural cells and mouse models.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.