Joyce So

This study evaluates the effectiveness of a Genetics e-Consult service over seven years, finding high completion rates and adherence to recommendations.

This study identifies a four-fold enrichment of treatable genetic disorders in psychiatric patients compared to the general population through targeted sequencing of 129 genes.

This study finds frequent copy number variant (CNV) syndromes in schizophrenia patients and proposes a CNV-schizophrenia model linking specific phenotypes to CNVs.

This study finds enrichment of pathogenic variants linked to treatable genetic disorders in psychiatric populations, particularly in schizophrenia.