SFARI | SFARI Funded Publications

Demographic differences in access to health/therapeutic services over first year of the pandemic: a SPARK COVID-19 impact survey analysis.

Tsai J.-M., Bhat A.N.

Male-dominant effects of Chd8 haploinsufficiency on synaptic phenotypes during development in mouse prefrontal cortex.

Ellingford R.A., Tojo M., Basson M. A., Andreae L.

Contribution of autosomal rare and de novo variants to sex differences in autism.

Koko M., Satterstrom F.K., Autism Sequencing Consortium, APEX Consortium, Warrier V., Martin H.

Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel.

Eltokhi A., Lundstrom B.N., Li J., Zweifel L., Catterall W., Gamal El-Din T.M.

Improvement of variant reclassification in genetic neurodevelopmental conditions.

Kowanda M., Smith R.S., Lundy J., Kentros C., Kleinman E., Walsh L.K., Schratt G., Taylor C.M., Chung W.K.

Impact of a genetic diagnosis for a child’s autism on parental perceptions.

Wynn J., Karlsen A., Huber B., Levine A., Salem A., White L.C., Luby M., Bezborodko E., Xiao S., Chung W., Klitzman R.L., Appelbaum P.S.

Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.

Caballero M., Satterstrom F.K., Buxbaum J., Mahjani B.

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

Singh A.K., Allington G., Viviano S., McGee S., Kiziltug E., Ma S., Zhao S., Mekbib K.Y., Shohfi J.P., Duy P.Q., DeSpenza Jr T., Furey C.G., Reeves B.C., Smith H., Sousa A. M. M., Cherksov A., Allocco A., Nelson-Williams C., Haider S., Rizvi S.R.A., Alper S.L., Sestan N., Shimelis H., Walsh L.K., Lifton R.P., Moreno-De-Luca A., Jin S.C., Kruszka P., Deniz E., Kahle K.

Clinical correlates of diagnostic certainty in children and youths with autistic disorder.

Rødgaard E.M., Rodríguez-Herreros B., Zeribi A., Jensen K., Courchesne V., Douard E., Gagnon D., Huguet G., Jacquemont S., Mottron L.

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

Goldberg M.E., Noyes M.D., Eichler E., Quinlan A., Harris K.C.