Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden
Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009