Soyeon Kim

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

Loss of CACNA1G disrupts sleep rhythms and gene regulation, creating a mismatch between brain state and behavior linked to schizophrenia.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

This study performs a GWAS on creativity using 241,736 individuals, identifying 25 loci and showing genetic overlap with several psychiatric disorders.

This study uses Mendelian randomization to assess if CSF biomarkers for amyloid and tau pathology causally influence Alzheimer’s disease risk, finding a protective effect for Aβ and a risk increase for p-tau.