A proof-of-concept study of growth hormone in children with Phelan–McDermid syndrome

por Sethuram, S., Levy, T., Foss-Feig, J., Halpern, D., Sandin, S., Siper, P. M., Walker, H., Buxbaum, J. D., Rapaport, R., Kolevzon, A.
Publicado 2022

Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

por Kolevzon, A., Breen, M. S., Siper, P. M., Halpern, D., Frank, Y., Rieger, H., Weismann, J., Trelles, M. P., Lerman, B., Rapaport, R., Buxbaum, J. D.
Publicado 2022

A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome

por Fastman, J., Foss-Feig, J., Frank, Y., Halpern, D., Harony-Nicolas, H., Layton, C., Sandin, S., Siper, P., Tang, L., Trelles, P., Zweifach, J., Buxbaum, J. D., Kolevzon, A.
Publicado 2021

Increased expression of receptor phosphotyrosine phosphatase-β/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes

por Takahashi, N, Sakurai, T, Bozdagi-Gunal, O, Dorr, N P, Moy, J, Krug, L, Gama-Sosa, M, Elder, G A, Koch, R J, Walker, R H, Hof, P R, Davis, K L, Buxbaum, J D
Publicado 2011

Rare structural variation of synapse and neurotransmission genes in autism

por Gai, X, Xie, H M, Perin, J C, Takahashi, N, Murphy, K, Wenocur, A S, D'arcy, M, O'Hara, R J, Goldmuntz, E, Grice, D E, Shaikh, T H, Hakonarson, H, Buxbaum, J D, Elia, J, White, P S
Publicado 2012

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

por Maestrini, E, Pagnamenta, A T, Lamb, J A, Bacchelli, E, Sykes, N H, Sousa, I, Toma, C, Barnby, G, Butler, H, Winchester, L, Scerri, T S, Minopoli, F, Reichert, J, Cai, G, Buxbaum, J D, Korvatska, O, Schellenberg, G D, Dawson, G, Bildt, A de, Minderaa, R B, Mulder, E J, Morris, A P, Bailey, A J, Monaco, A P
Publicado 2010