Joseph T.C. Shieh

The paper identifies a pathogenic splice site variant in DEGS1 causing aberrant splicing and loss of enzyme activity in individuals with HLD18.

The paper uses snRNA-seq to analyze mosaic chromosome 1q gain in a case of epilepsy with hyaline protoplasmic astrocytopathy, finding cell-type-specific gene expression changes in neurons and astrocytes.

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.

This study identifies common genetic variation associated with Mendelian disease severity using cryptic phenotype analysis on large biobank cohorts.

This study evaluates the Full Genome Analysis method for diagnosing rare monogenic disorders, finding a 40% diagnostic yield in clinical cases.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

The paper identifies novel essential gene candidates by analyzing human embryonic gene expression and integrating it with mouse knockout data and evolutionary conservation.