Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. - Di Gregorio, E.; Riberi, E.; Belligni, E.F.; Biamino, E.; Spielmann, M.; Ala, U.; Calcia, A.; Bagnasco, I.; Carli, D.; Gai, G.; Giordano, M.; Guala, A.; et al. (Clinical Genetics, 2017)