Authors: Gillia, Lynette A. McCallum, Jennifer Kaur, Maninder DeScipio, Cheryl Yaeger, Dinah Mariani, Allison Kline, Antoine D. Li, Hui-hua Devoto, Marcella Jackson, Laird G. Krantz, Ian D.

Citation: A. Gillia, Lynette et al., NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations, American journal of human genetics , 75(4), 2004, pp. 610-623