SFARI | SFARI Funded Publications

Shank is a dose-dependent regulator of Ca_v1 calcium current and CREB target expression.

Pym E., Sasidharan N., Thompson-Peer K.L., Simon D.J., Anselmo A., Sadreyev R., Hall Q., Nurrish S., Kaplan J.

The placental interleukin-6 signaling controls fetal brain development and behavior.

Wu W.L., Hsiao E.Y., Yan Z., Mazmanian S., Patterson P. H.

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

Webster R., Cho M.T., Retterer K., Millan F., Nowak C., Douglas J., Ahmad A., Raymond G.V., Johnson M.R., Pujol A., Begtrup A., McKnight D., Devinsky O., Chung W.

CHD8 mutation leads to autistic-like behaviors and impaired striatal circuits.

Platt R.J., Zhou Y., Slaymaker I.M., Shetty A.S., Weisbach N.R., Kim J.A., Sharma J., Desai M., Sood S., Kempton H.R., Crabtree G., Feng G., Zhang F.

Neurogenetic analysis of childhood disintegrative disorder.

Gupta A., Westphal A., Yang D.Y.J., Sullivan C.A.W., Eilbott J., Zaidi S., Voos A., Vander Wyk B.C., Ventola P., Waqar Z., Fernandez T., Ercan-Sencicek A.G., Walker M.F., Choi M., Schneider A., Hedderly T., Baird G., Friedman H., Cordeaux C., Ristow A., Shic F., Volkmar F.R., Pelphrey K.

Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.

Angelakos C.C., Watson A.J., O'Brien W. T., Krainock K.S., Nickl-Jockschat T., Abel T.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Klöckner C., Sticht H., Zacher P., Popp B., Babcock H.E., Bakker D.P., Barwick K., Bonfert M.V., Bönnemann C.G., Brilstra E.H., Care4Rare Canada Consortium, Chung W.K., Clarke A.J., Devine P., Donkervoort S., Fraser J.L., Friedman J., Gates A., Ghoumid J., Hobson E., Horvath G., Keller-Ramey J., Keren B., Kurian M.A., Lee V., Leppig K.A., Lundgren J., McDonald M.T., McTague A., Mefford H.C., Mignot C., Mikati M.A., Nava C., Raymond F.L., Sampson J.R., Sanchis-Juan A., Shashi V., Shieh J.T.C., Shinawi M., Slavotinek A., Stödberg T., Stong N., Sullivan J.A., Taylor A.C., Toler T.L., van den Boogaard M.-J., van der Crabben S.N., van Gassen K.L.I., van Jaarsveld R.H., Van Ziffle J., Wadley A.F., Wagner M., Wigby K., Wortmann S.B., Zarate Y.A., Møller R.S., Lemke J.R., Platzer K.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki J.A., Samocha K.E., Howrigan D.P., Sanders S., Slowikowski K., Lek M., Karczewski K.J., Cutler D.J., Devlin B., Roeder K., Buxbaum J., Neale B.M., MacArthur D.G., Wall D., Robinson E., Daly M.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman H., Xiong B., Coe B.P., Wang T., Hoekzema K., Fenckova M., Kvarnung M., Gerdts J., Trinh S., Cosemans N., Vives L., Lin J., Turner T., Santen G., Ruivenkamp C., Kriek M., van Haeringen A., Aten E., Friend K., Liebelt J., Barnett C., Haan E., Shaw M., Gecz J., Anderlid B.M., Nordgren A., Lindstrand A., Schwartz C., Kooy R.F., Vandeweyer G., Helsmoortel C., Romano C., Alberti A., Vinci M., Avola E., Giusto S., Courchesne E., Pramparo T., Pierce K., Nalabolu S., Amaral D., Scheffer I.E., Delatycki M.B., Lockhart P.J., Hormozdiari F., Harich B., Castells-Nobau A., Xia K., Peeters H., Nordenskjold M., Schenck A., Bernier R., Eichler E.

Auditory processing in noise is associated with complex patterns of disrupted functional connectivity in autism spectrum disorder.

Mamashli F., Khan S., Bharadwaj H., Michmizos K., Ganesan S., Garel K.A., Ali Hashmi J., Herbert M.R., Hämäläinen M., Kenet T.