SFARI | SFARI Funded Publications

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

Gockley J., Willsey A. J., Dong S., Dougherty J., Constantino J., Sanders S.

Control of brain development, function, and behavior by the microbiome.

A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology.

Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L., Maillard A.M., Alfaiz A.A., 16p11, 2 European Consortium, van Haelst M.M., Andrieux J., Gusella J., Daly M., Beckmann J.S., Jacquemont S., Talkowski M., Katsanis N., Reymond A.

A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Chaste P., Klei L., Sanders S., Hus V., Murtha M.T., Lowe J.K., Willsey A. J., Moreno-De-Luca D., Yu T., Fombonne E., Geschwind D., Grice D.E., Ledbetter D., Mane S.M., Martin D.M., Morrow E., Walsh C., Sutcliffe J., Martin C. L., Beaudet A., Lord C., State M., Cook E. H., Devlin B.

Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism.”

Duyzend M.H., Eichler E.

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

Hanson E., Bernier R., Porche K., Jackson F.I., Goin-Kochel R., Green Snyder L., Snow A.V., Wallace A.S., Campe K.L., Zhang Y., Chen Q., D'Angelo D., Moreno-De-Luca A., Orr P.T., Boomer K.B., Evans D.W., Kanne S., Berry L., Miller F.K., Olson J., Sherr E., Martin C. L., Ledbetter D., Spiro J., Chung W., Simons Variation in Individuals Project Consortium.

Cortical variability in the sensory-evoked response in autism.

Haigh S.M., Heeger D., Dinstein I., Minshew N., Behrmann M.

Maternal immune activation in nonhuman primates alters social attention in juvenile offspring.

Machado C.J., Whitaker A.M., Smith S.E., Patterson P. H., Bauman M.D.

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.

Somatosensory cortex functional connectivity abnormalities in autism show opposite trends, depending on direction and spatial scale.

Khan S., Michmizos K., Tommerdahl M., Ganesan S., Kitzbichler M.G., Zetino M., Garel K.L., Herbert M.R., Hämäläinen M.S., Kenet T.