Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano-Rivas, Christine G. Spaeth, Stephanie Efthymiou, Pasquale Striano, Jana Vandrovcova, Maria C. Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marce-Grau, Miquel Raspall-Chaure, Elena Martin-Hernandez, Federico Zara, Carlo Minetti, Deciphering Developmental Disorders Study, SYNAPS Study Group, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frederic Tran Mau-Them, Laurence Faivre, Francisco Martinez-Azorin, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden
Am J Hum Genet. 2019 Apr 4; 104(4): 721–730. Published online 2019 Mar 28. doi: 10.1016/j.ajhg.2019.02.016