Funded Projects
SFARI Funded Publications
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N., Cantagrel V., Zaki M.S., Al-Gazali L., Wang X., Rosti R.O., Dikoglu E., Gelot A.B., Rosti B., Vaux K.K., Scott E.M., Silhavy J.L., Schroth J., Copeland B., Schaffer A.E., Gordts P.L., Esko J.D., Buschman M.D., Field S.J., Napolitano G., Abdel-Salam G.M., Ozgul R.K., Sagiroglu M.S., Azam M., Ismail S., Aglan M., Selim L., Mahmoud I.G., Abdel-Hadi S., Badawy A.E., Sadek A.A., Mojahedi F., Kayserili H., Masri A., Bastaki L., Temtamy S., Muller U., Desguerre I., Casanova J.L., Dursun A., Gunel M., Gabriel S.B., de Lonlay P., Gleeson J.
Haploinsufficiency of the autism-associated SHANK3 gene leads to deficits in synaptic function, social interaction, and social communication.
Bozdagi O., Sakurai T., Papapetrou D., Wang X., Dickstein D.L., Takahashi N., Kajiwara Y., Yang M., Katz A.M., Scattoni M.L., Harris M.J., Saxena R., Silverman J.L., Crawley J., Zhou Q., Hof P.R., Buxbaum J.
