NIPBL and Cornelia de Lange syndrome: The latter effect is independent of the presence of STAG2 and may rely, at least in part, on repression of STAG1 transcription, as increased STAG1 mRNA levels are detected after reduction of NIPBL in several contexts, including blood cells from Cornelia de Lange (CdLS) patients with NIPBL mutations18,19,39–41 (Supplementary Table 2).