SFARI | SFARI Funded Publications

Genome sequencing of autism-affected families reveals disruption of putative noncoding regulatory DNA.

Turner T.N., Hormozdiari F., Duyzend M.H., McClymont S.A., Hook P.W., Iossifov I., Raja A., Baker C., Hoekzema K., Stessman H., Zody M.C., Nelson B.J., Huddleston J., Sandstrom R., Smith J.D., Hanna D., Swanson J.M., Faustman E.M., Bamshad M.J., Stamatoyannopoulos J., Nickerson D.A., McCallion A.S., Darnell R., Eichler E.

Human iPS cell-derived neurons uncover the impact of increased Ras signaling in Costello syndrome.

Rooney G.E., Goodwin A.F., Depeille P., Sharir A., Schofield C.M., Yeh E., Roose J.P., Klein O.D., Rauen K.A., Weiss L., Ullian E.

Mice with Shank3 mutations associated with ASD and schizophrenia display both shared and distinct defects.

Zhou Y., Kaiser T., Monteiro P., Zhang X., Van der Goes M.S., Wang D., Barak B., Zeng M., Li C., Lu C., Wells M., Amaya A., Nguyen S., Lewis M., Sanjana N., Zhou Y., Zhang M., Zhang F., Fu Z., Feng G.

BONLAC: A combinatorial proteomic technique to measure stimulus-induced translational profiles in brain slices.

Bowling H., Bhattacharya A., Zhang G., Lebowitz J.Z., Alam D., Smith P.T., Kirshenbaum K., Neubert T.A., Vogel C., Chao M., Klann E.

Expression of CNTNAP2 (CASPR2) in multiple levels of sensory systems.

Gordon A., Salomon D., Barak N., Pen Y., Tsoory M., Kimchi T., Peles E.

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.

Shang L., Henderson L.B., Cho M.T., Petrey D.S., Fong C.T., Haude K.M., Shur N., Lundberg J., Hauser N., Carmichael J., Innis J., Schuette J., Wu Y.W., Asaikar S., Pearson M., Folk L., Retterer K., Monaghan K.G., Chung W.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon B.W., Coe B.P., Bernier R., Green C., Gerdts J., Witherspoon K., Kleefstra T., Willemsen M.H., Kumar R., Bosco P., Fichera M., Li D., Amaral D., Cristofoli F., Peeters H., Haan E., Romano C., Mefford H., Scheffer I., Gecz J., de Vries B.B., Eichler E.

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities.

D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Green Snyder L., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A., Pain A., Bernier R., Chawner S.J., David A., Andrieux J., Aylward E., Baujat G., Caldeira I., Conus P., Ferrari C., Forzano F., Gérard M., Goin-Kochel R., Grant E., Hunter J., Isidor B., Jacquette A., Jonch A.E., Keren B., Lacombe D., Le Caignec C., Martin C.L., Männik K., Metspalu A., Mignot C., Mukherjee P., Owen M.J., Passeggeri M., Rooryck-Thambo C., Rosenfeld J.A., Spence S., Steinman K.J., Tjernagel J., Van Haelst M., Shen Y., Draganski B., Sherr E., Ledbetter D., van den Bree M.B., Beckmann J.S., Spiro J., Reymond A., Jacquemont S., Chung W., Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, the 16p11, 2 European Consortium, and the Simons Variation in Individuals Project (VIP) Consortium.

Maternal modifiers and parent-of-origin bias of the autism-associated 16p11.2 CNV.

Duyzend M.H., Nuttle X., Coe B.P., Baker C., Nickerson D.A., Bernier R., Eichler E.

Behavior and sensory interests questionnaire: Validation in a sample of children with autism spectrum disorder and other developmental disability.

Hanson E., Sideridis G., Jackson F.I., Porche K., Campe K.L., Huntington N.