SFARI | SFARI Funded Publications

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.

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.

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.

Striatal cholinergic interneurons modulate spike-timing in striosomes and matrix by an amphetamine-sensitive mechanism.

Crittenden J.R., Lacey C.J., Weng F.J., Garrison C.E., Gibson D.J., Lin Y., Graybiel A.

Diverse non-genetic, allele-specific expression effects shape genetic architecture at the cellular level in the mammalian brain.

Huang W.C., Ferris E., Cheng T., Hörndli C.S., Gleason K., Tamminga C., Wagner J.D., Boucher K.M., Christian J.L., Gregg C.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Collins R.L., Brand H., Redin C.E., Hanscom C., Antolik C., Stone M.R., Glessner J.T., Mason T., Pregno G., Dorrani N., Mandrile G., Giachino D., Perrin D., Walsh C., Cipicchio M., Costello M., Stortchevoi A., An J.Y., Currall B.B., Seabra C.M., Ragavendran A., Margolin L., Martinez-Agosto J.A., Lucente D., Levy B., Sanders S., Wapner R.J., Quintero-Rivera F., Kloosterman W., Talkowski M.

Neural circuitry at age 6 months associated with later repetitive behavior and sensory responsiveness in autism.

Wolff J.J., Swanson M.R., Elison J., Gerig G., Pruett J.R. Jr., Styner M.A., Vachet C., Botteron K., Dager S., Estes A.M., Hazlett H., Schultz R., Shen M.D., Zwaigenbaum L., Piven J., IBIS Network.