Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

？ Disrupting the TFAP2A regulatory domain causes branchiooculofacial syndrome (BOFS) ？ Enhancer disconnection leads to monoallelic and reduced TFAP2A expression ？ Placing enhancers and genes within a TAD is not sufficient for enhancer adoption ？ Patient-specific hiPSC-derived neural crest to uncover long-range pathomechanism