Patricia Dickson

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

This study identifies metabolic differences between MPS IH and MPS IA patients treated with different therapies, highlighting potential biomarkers and therapeutic pathways.

BioMedGraphica integrates biomedical knowledge into a unified graph and introduces a Textual-Numeric Graph structure for multi-omics analysis.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

The paper shows that reducing heparan sulfate in cerebrospinal fluid reflects brain neuron correction in Sanfilippo B mice through targeted enzyme delivery.

This study investigates the role of GABAergic interneurons in seizure progression and mortality in CLN2 disease mice, finding that interneuron dysfunction contributes to epileptic seizures and death.

OmniCellAgent autonomously retrieves and analyzes scRNA-seq datasets to generate structured reports and hypotheses across disease settings.

This study uses genome-engineered cells with IDS mutations to identify subtle lysosomal and membrane phenotypes that correlate with genetic variants in the IDS gene, improving the assessment of variant pathogenicity.

This study genetically corrects iPSC-derived neural stem cells to deliver a modified NAGLU enzyme, reducing disease pathology in Sanfilippo B mice.

This study shows that rhNAGLU-IGF2 treatment improves disease markers, behavior, and survival in Sanfilippo B mice and dogs.

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.