NIPBL and Roberts-SC phocomelia syndrome: LCLs from 16 severely affected CdLS probands with NIPBL protein-truncating mutations as well as 17 age, gender, and race matched healthy controls were used as training samples for assays on the Affymetrix HG-U133 plus 2.0 expression arrays, six additional individuals including one CdLS proband, one healthy control, two RBS probands (a related cohesinopathy), and two Alagille syndrome (AGS) probands (an unrelated multisystem dominant developmental disorder caused by disruption in the Notch signaling pathway) served as testing samples (Table S1A and S1B).