SFARI | SFARI Funded Publications

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.

Antaki D., Guevara J., Maihofer A.X., Klein M., Gujral M., Grove J., Carey C.E., Hong O., Arranz M.J., Hervas A., Corsello C., Vaux K.K., Muotri A., Iakoucheva L., Courchesne E., Pierce K., Gleeson J., Robinson E., Nievergelt C.M., Sebat J.

Rare variants and the oligogenic architecture of autism.

Wang T., Zhao P.A., Eichler E.

Developmental variability in autism across 17000 autistic individuals and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis.

Kuo S.S., van der Merwe C., Fu J.M., Carey C.E., Talkowski M., Bishop S., Robinson E.

Genetic correlates of phenotypic heterogeneity in autism.

Warrier V., Zhang X., Reed P., Havdahl A., Moore T.M., Cliquet F., Leblond C.S., Rolland T., Rosengren A., EU-AIMS-LEAP, iPSYCH-Autism Working Group, Spectrum 10K and APEX Consortia, Rowitch D., Hurles M., Geschwind D., Børglum A.D., Robinson E., Grove J., Martin H., Bourgeron T., Baron-Cohen S.

The impact of birth order on language development in autistic children from Simplex families.

McFayden T.C., Fok M., Ollendick T.H.

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X., Feliciano P., Shu C., Wang T., Astrovskaya I., Hall J., Obiajulu J.U., Wright J., Murali S., Xuming Xu S., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Green Snyder L., Han B., Chang T.S., Turner T., Harvey W.T., Nishida A., O'Roak B., Geschwind D., SPARK Consortium, Michaelson J., Volfovsky N., Eichler E., Shen Y., Chung W.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Fu J.M., Satterstrom F.K., Peng M., Brand H., Collins R.L., Dong S., Wamsley B., Klei L., Wang L., Hao S.P., Stevens C.R., Cusick C., Babadi M., Banks E., Collins B., Dodge S., Gabriel S.B., Gauthier L., Lee S.K., Liang L., Ljungdahl A., Mahjani B., Sloofman L., Smirnov A., Barbosa M., Betancur C., Brusco A., Chung B.H.Y., Cook E. H., Cuccaro M.L., Domenici E., Ferrero G.B., Gargus J.J., Herman G.E., Hertz-Picciotto I., Maciel P., Manoach D., Passos-Bueno M.R., Persico A.M., Renieri A., Sutcliffe J., Tassone F., Trabetti E., Campos G., Cardaropoli S., Carli D., Chan M.C.Y., Fallerini C., Giorgio E., Girardi A.C., Hansen-Kiss E., Lee S.L., Lintas C., Ludena Y., Nguyen R., Pavinato L., Pericak-Vance M., Pessah I.N., Schmidt R. J., Smith M., Souza C.I.S., Trajkova S., Wang J.Y.T., Yu M.H.C., Autism Sequencing Consortium (ASC), Broad Institute Center for Common Disease Genomics (Broad-CCDG), iPSYCH-BROAD Consortium, Cutler D.J., Rubeis S.D., Buxbaum J., Daly M., Devlin B., Roeder K., Sanders S., Talkowski M.

Altered theta-beta ratio in infancy associates with family history of ADHD and later ADHD-relevant temperamental traits.

Begum-Ali J., Goodwin A., Mason L., Pasco G., Charman T., Johnson M., Jones E., STAARS Team

Examining the factor structure and discriminative utility of the infant behavior questionnaire-revised in infant siblings of autistic children.

Sung S., Fenoglio A., Wolff J.J., Schultz R., Botteron K., Dager S., Estes A.M., Hazlett H., Zwaigenbaum L., Piven J., Elison J.T., IBIS Network

Measuring transcription factor binding and gene expression using barcoded self-reporting transposon calling cards and transcriptomes.

Lalli M., Yen A., Thopte U., Dong F., Moudgil A., Chen X., Milbrandt J., Dougherty J., Mitra R.