We joined a HUGE multidisciplinary collaborating network (that also includes the group of J.E. Rothman, 2013 Nobel Prize in Medicine!!) and we published on the American Journal of Human Genetics (achievement also covered by a press release and distributed, among others, by  ANSA, national press IlMessagero, and TV TELENORD).

Here the paper (and play the game “find my name!”):

V. Salpietro, N.T. Malintan, I. Llano-Rivas, C.G. Spaeth, S. Efthymiou, P. Striano, J. Vandrovcova, M.C. Cutrupi, R. Chimenz, E. David, G. Di Rosa, A. Marce-Grau, M. Raspall-Chaure, E. Martin-Hernandez, F. Zara, C. Minetti, Deciphering Developmental Disorders Study, SYNAPS Study Group, O.D. Bello, R. De Zorzi, S. Fortuna, A. Dauber, M. Alkhawaja, T. Sultan, K. Mankad, A. Vitobello, Q. Thomas, F. Tran Mau-Them, L. Faivre, F. Martinez-Azorin, C.E. Prada, A. Macaya, D.M. Kullmann, J.E. Rothman, S.S. Krishnakumar, and H. Houlden
Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment
Am. J. Hum. Genet., 2019, 104, 1-10