Alazami A et al.Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015;10(2): 148-161. PMID: 25558065.
Yuan B et al.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.J Clin Invest. 2015;125(2):636-651. PMID: 25574841.