Timothy S. Chang

Advancing Precision Health Discovery in a Genetically Diverse Health System

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

Lysosomal proteomics reveals mechanisms of neuronal apoE4-associated lysosomal dysfunction

This study identifies lysosomal proteome changes caused by apoE4, linking them to lysosomal dysfunction and Alzheimer's disease pathology.

Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

Whole-Genome Sequencing Analysis Reveals New Susceptibility Loci and Structural Variants Associated with Progressive Supranuclear Palsy

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families

This study identifies 74 ASD risk genes using whole genome sequencing of multiplex families and finds polygenic risk interacts with rare inherited variants.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

Tau interactome mapping reveals dynamic processes in synapses and mitochondria associated with neurodegenerative disease

The paper maps Tau interactomes in neurons using APEX and AP-MS to reveal activity-dependent interactions and FTD mutation effects on mitochondrial associations in neurodegenerative diseases.

Identification of conserved proteomic networks in neurodegenerative dementia

The paper identifies conserved proteomic changes in neurodegenerative dementias, distinguishing AD and PSP genetic risk modules and showing some variance in protein expression is post-transcriptional.

Dementia risk genes engage gene networks poised to tune the immune response towards chronic inflammatory states

The paper identifies microglial gene networks linked to dementia risk genes that drive chronic inflammation and immune suppression in neurodegenerative diseases.