Pablo V. Gejman

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

The paper identifies genetically distinct patient subgroups across diseases by analyzing polygenic risk and pathway convergence.

The paper identifies OTUD7A loss-of-function mutations in schizophrenia-associated 15q13.3 deletions and shows they impair synapse development and function in human neurons.

The paper identifies allele-specific open chromatin (ASoC) variants in human iPSC-derived neurons and shows their strong enrichment in brain disorder risk variants.

SummaryAUC approximates the AUC of polygenic risk scores using only summary statistics from validation datasets, enabling efficient evaluation of PRS models.

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

The paper confirms a polygenic effect on negative symptoms in schizophrenia using GWAS, identifies novel loci, and highlights the need for larger samples.