Raymond Wang

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.

This study shows that continuous attractor networks with more bumps are more robust to noise when encoding linear coordinates, but not circular coordinates.

This paper generates and characterizes a Gaa c.1935C>A knock-in mouse model of infantile-onset Pompe disease, showing reduced GAA activity, glycogen accumulation, and cardiac hypertrophy.

This study identifies the SWS1-SWSAP1-SPIDR complex as a regulator of distinct homologous recombination pathways, with specific roles in inter-homolog HDR and cancer-related genomic instability.

This paper describes a CRISPR-Cas9-generated murine model of infantile-onset Pompe Disease that exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness similar to the human condition.

This study identifies OTUD5 as essential for chromatin remodeling during development, showing its role in preventing degradation of chromatin regulators and maintaining proper gene expression networks.