Pau Puigdevall

The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.

This study compares in vivo and in vitro midbrain development to assess their similarity to human fetal tissue.

The paper jointly profiles neuronal morphology and gene expression during iPSC differentiation to better understand neuronal development and disease modeling.

This study investigates how somatic mutations affect dopaminergic neuron differentiation in iPSCs, finding that deleterious mutations in key genes like BCOR are linked to differentiation failure and altered proliferation.