CHD7 and CHARGE syndrome: Indeed, pSAD-based minigenes have constituted an invaluable technology to functionally test variants of other disease genes such as GRN (Frontotemporal Dementia), SERPINA1 (Severe alpha-1 antitrypsin deficiency) and CHD7 (Charge Syndrome) genes (Lara et al., 2014; Villate et al., 2018).