Ricardo E. Dolmetsch

The paper uses hiPS cell-derived cortical organoids to study how genetic mutations in ASD converge on shared transcriptional changes during development.

The paper uses patient brain organoids to show that 16p11.2 CNVs affect RBFOX1 expression and link it to neurodevelopmental disorders.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

The paper generates 65 hiPSC clones with 16p11.2 CNVs and identifies transcriptional changes in neural development using RNA-Seq.

This study shows that CRISPR/Cas9 induces toxicity in human pluripotent stem cells, which is dependent on TP53 and hinders genome engineering.