Dinah Yaeger

TL;DR: The genomic structure of NIPBL is characterized and it is found that it is widely expressed in fetal and adult tissues and facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.

TL;DR: The authors' data indicate that SMC3 and SMC1A mutations contribute to approximately 5% of cases of CdLS, result in a consistently mild phenotype with absence of major structural anomalies typically associated with Cd LS, and in some instances, result with a phenotype that approaches that of apparently nonsyndromic mental retardation.

TL;DR: The spectrum and distribution of NIPBL mutations in a large well-characterized cohort of individuals with Cornelia de Lange syndrome suggested a trend toward a milder phenotype in individuals with missense mutations than in those with other types of mutations.

TL;DR: These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast.

TL;DR: Six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy–Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation are identified.