Alden Huang

This study identifies six genome-wide significant risk loci for tic disorders and links genetic risk to specific brain cell types and circuits.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.