SFARI | SFARI Funded Publications

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

Castel S.E., Cervera A., Mohammadi P., Aguet F., Reverter F., Wolman A., Guigo R., Iossifov I., Vasileva A., Lappalainen T.

Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder.

Esler A.N., Stronach S.T., Jacob S.

Zebrafish models of neurodevelopmental disorders: Past, present, and future.

Sakai C., Hoffman E.

MAP1B mutations cause intellectual disability and extensive white matter deficit.

Walters G.B., Gustafsson O., Sveinbjornsson G., Eiriksdottir V.K., Agustsdottir A.B., Jonsdottir G.A., Steinberg S., Gunnarsson A.F., Magnusson M.I., Unnsteinsdottir U., Lee A.L., Jonasdottir A., Sigurdsson A., Jonasdottir A., Skuladottir A., Jonsson L., Nawaz M.S., Sulem P., Frigge M., Ingason A., Love A., Norddhal G.L., Zervas M., Gudbjartsson D.F., Ulfarsson M.O., Saemundsen E., Stefansson H., Stefansson K.

Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study.

Martin-Brevet S., Rodriguez-Herreros B., Nielsen J.A., Moreau C., Modenato C., Maillard A.M., Pain A., Richetin S., Jonch A.E., Qureshi A.Y., Zurcher N.R., Conus P., 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Chung W., Sherr E., Spiro J., Kherif F., Beckmann J.S., Hadjikhani N., Reymond A., Buckner R., Draganski B., Jacquemont S.

Smartphone measures of day-to-day behavior changes in children with autism.

Jones R., Tarpey T., Hamo A., Carberry C., Lord C.

Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome.

Ash R.T., Fahey P.G., Park J., Zoghbi H., Smirnakis S.

Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.

Yeh E., Dao D.Q., Wu Z.Y., Kandalam S.M., Camacho F.M., Tom C., Zhang W., Krencik R., Rauen K.A., Ullian E., Weiss L.

Connectivity dynamics in typical development and its relationship to autistic traits and autism spectrum disorder.

Rashid B., Blanken L.M.E., Muetzel R.L., Miller R., Damaraju E., Arbabshirani M.R., Erhardt E.B., Verhulst F.C., van der Lugt A., Jaddoe V.W.V., Tiemeier H., White T., Calhoun V.

5-HT release in nucleus accumbens rescues social deficits in mouse autism model.

Walsh J.J., Christoffel D.J., Heifets B.D., Ben-Dor G.A., Selimbeyoglu A., Hung L.W., Deisseroth K., Malenka R.