• Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome (review)
    with E. E. Mlynarski, M. B. Sheridan, M. Xie, S. E. Racedo, D. M. M. McDonald-McGinn, X. Gai, E. W. C. Chow, J. A. S. Vorstman, A. Swillen, K. K. Devriendt, J. Breckpot, M. C. R. Digilio, B. Marino, B. Dallapiccola, Philip N., T. J. Simon, A. E. Roberts, M. Piotrowicz, C. E. Bearden, S. Eliez, D. Gothelf, K. Coleman, W. R. Kates, M. Devoto, E. H. Zackai, D. Heine-Suñer, T. H. Shaikh, A. S. Bassett, E. Goldmuntz, B. E. Morrow, and B. S. Emanuel
    © 2015 The American Society of Human Genetics. The 22q11.2 deletion syndrome is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect, mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants outside the 22q11.2 deleted region might increase the risk of being born with a…Read more