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Funded Publications

Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.

  1. Synaptic basis of social dysfunction: A focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs.

    Eur. J. Neurosci., March 31, 2014

    O'Connor E.C., Bariselli S., and Bellone C.

  2. Neural measures of social attention across the first years of life: Characterizing typical development and markers of autism risk.

    Dev. Cogn. Neurosci., March 31, 2014

    Luyster R.J., Powell C., H. Tager-Flusberg, and C. Nelson

  3. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

    Nat. Genet., March 31, 2014

    Helsmoortel C., Vulto-van Silfhout A.T., Coe B.P., Vandeweyer G., Rooms L., van den Ende J., et al.

  4. HITS-CLIP and integrative modeling define the RBFOX splicing-regulatory network linked to brain development and autism.

    Cell Rep., March 26, 2014

    Weyn-Vanhentenryck S.M., Mele A., Yan Q., Sun S., Farny N., Zhang Z., et al.

  5. Patches of disorganization in the neocortex of children with autism.

    N. Engl. J. Med., March 26, 2014

    Stoner R., Chow M.L., Boyle M.P., Sunkin S.M., Mouton P.R., Roy S., et al.

  6. Intracellular mGluR5 can mediate synaptic plasticity in the hippocampus.

    J. Neurosci., March 25, 2014

    Purgert C.A., Izumi Y., Jong Y.J., Kumar V., Zorumski C.F., and O'Malley K.L.

  7. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome.

    Proc. Natl. Acad. Sci. USA, March 24, 2014

    O. Khwaja, Ho E., Barnes K.V., O'Leary H.M., Pereira L.M., Finkelstein Y., et al.

  8. Enhancement of inhibitory neurotransmission by GABAA receptors having alpha2,3-subunits ameliorates behavioral deficits in a mouse model of autism.

    Neuron, March 18, 2014

    Han S., Tai C., Jones C.J., Scheuer T., and W. Catterall

  9. Soy infant formula and seizures in children with autism: A retrospective study.

    PLoS One, March 11, 2014

    Westmark C.J.

  10. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

    Am. J. Hum. Genet., March 5, 2014

    Jacquemont S., Coe B.P., Hersch M., Duyzend M.H., Krumm N., Bergmann S., et al.

  11. DAWN: A framework to identify autism genes and subnetworks using gene expression and genetics.

    Mol. Autism, March 5, 2014

    Liu L., Lei J., S. Sanders, A. Willsey, Kou Y., A. E. Çiçek, et al.

  12. Behavioral and cognitive characteristics of females and males with autism in the Simons Simplex Collection.

    J. Am. Acad. Child Adolesc. Psychiatry, February 28, 2014

    T. Frazier, Georgiades S., S. Bishop, and A. Hardan

  13. Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.

    Mol. Psvchiatry, February 28, 2014

    Schwede M., Garbett K., Mirnics K., D. Geschwind, and E. Morrow

  14. A general framework for estimating the relative pathogenicity of human genetic variants.

    Nat. Genet., February 28, 2014

    Kircher M., Witten D.M., Jain P., B. O'Roak, G. Cooper, and Shendure J.

  15. Unimpaired attentional disengagement and social orienting in children with autism.

    Clin. Psychol. Sci., February 28, 2014

    Fischer J., K. Koldewyn, Y. Jiang, and N. Kanwisher

  16. A genotype-first approach to defining the subtypes of a complex disease.

    Cell, February 26, 2014

    H. Stessman, R. Bernier, and E. Eichler

  17. Divergent dysregulation of gene expression in murine models of fragile x syndrome and tuberous sclerosis.

    Mol. Autism, February 23, 2014

    Kong S.W., M. Sahin, Collins C.D., Wertz M.H., Campbell M.G., Leech J.D., et al.

  18. Genetic aspects of autism spectrum disorders: Insights from animal models.

    Front. Cell Neurosci., February 23, 2014

    Banerjee S., Riordan M., and M. Bhat

  19. Activation of the maternal immune system during pregnancy alters behavioral development of rhesus monkey offspring.

    Biol. Psychiatry, February 14, 2014

    Bauman M.D., Iosif A.M., Smith S.E., Bregere C., D. Amaral, and P. Patterson

  20. Neuron-specific regulation of class I PI3K catalytic subunits and their dysfunction in brain disorders.

    Front. Mol. Neurosci., February 12, 2014

    C. Gross and G. Bassell

  21. EphB receptor forward signaling regulates area-specific reciprocal thalamic and cortical axonpathfinding.

    Proc. Natl. Acad. Sci. USA, February 10, 2014

    Robichaux M.A., Chenaux G., Ho H.Y., Soskis M.J., Dravis C., K. Kwan, et al.

  22. Oxytocin-mediated GABA inhibition during delivery attenuates autism pathogenesis in rodent offspring.

    Science, February 6, 2014

    Tyzio R., Nardou R., Ferrari D.C., Tsintsadze T., Shahrokhi A., Eftekhari S., et al.

  23. Differences in the right inferior longitudinal fasciculus but no general disruption of white matter tracts in children with autism spectrum disorder.

    Proc. Natl. Acad. Sci. USA, February 3, 2014

    K. Koldewyn, Yendiki A., Weigelt S., Gweon H., Julian J., Richardson H., et al.

  24. A de novo convergence of autism genetics and molecular neuroscience.

    Trends Neurosci., January 31, 2014

    Krumm N., B. O'Roak, Shendure J., and E. Eichler

  25. The role of de novo mutations in the genetics of autism spectrum disorders.

    Nat. Rev. Genet., January 31, 2014

    Ronemus M., I. Iossifov, Levy D., and M. Wigler

  26. Mapping Argonaute and conventional RNA-binding protein interactions with RNA at single-nucleotide resolution using HITS-CLIP and CIMS analysis.

    Nat. Protoc., January 31, 2014

    Moore M.J., C. Zhang, Gantman E.C., Mele A., J. Darnell, and R. Darnell

  27. Genome-wide antagonism between 5-hydroxymethylcytosine and DNA methylation in the adult mouse brain.

    Front. Biol. (Beijing), January 31, 2014

    Guo J.U., Szulwach K.E., Su Y., Y. Li, Yao B., Xu Z., et al.

  28. Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain.

    Nat. Neurosci., January 31, 2014

    Guo J.U., Su Y., Shin J.H., Shin J., Li H., Xie B., et al.

  29. Analysis of FMR1 deletion in a subpopulation of post-mitotic neurons in mouse cortex and hippocampus.

    Autism Res., January 31, 2014

    Amiri A., Sanchez-Ortiz E., Cho W., Birnbaum S.G., Xu J., McKay R.M., et al.

  30. A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.

    Transl. Psychiatry, January 27, 2014

    K. Wittkowski, Sonakya V., Bigio B., Tonn M.K., F. Shic, Ascano M., et al.

  31. Circuit dynamics of adaptive and maladaptive behaviour.

    Nature, January 15, 2014

    K. Deisseroth

  32. Multisensory temporal integration in autism spectrum disorders.

    J. Neurosci., January 14, 2014

    Stevenson R.A., Siemann J.K., Schneider B.C., Eberly H.E., Woynaroski T.G., Camarata S.M., et al.

  33. The developmental switch in GABA polarity is delayed in fragile X mice.

    J. Neurosci., January 7, 2014

    He Q., Nomura T., Xu J., and A. Contractor

  34. Rare-variant extensions of the transmission disequilibrium test: Application to autism exome sequence data.

    Am. J. Hum. Genet., January 1, 2014

    He Z., B. O'Roak, Smith J.D., Wang G., Hooker S., Santos-Cortez R.L., et al.

  35. Nonverbal and verbal cognitive discrepancy profiles in autism spectrum disorders: Influence of age and gender.

    Am. J. Intellect. Dev. Disabil., December 31, 2013

    Ankenman K., Elgin J., Sullivan K., Vincent L., and R. Bernier

  36. The genetic landscape of autism spectrum disorders.

    Dev. Med. Child Neurol., December 31, 2013

    Rosti R.O., Sadek A.A., Vaux K.K., and J. Gleeson

  37. Subventricular zone cytoarchitecture changes in autism.

    Dev. Neurobiol., December 31, 2013

    Kotagiri P., S. Chance, F. Szele, and Esiri M.M.

  38. Autism traits in the RASopathies.

    J. Med. Genet., December 31, 2013

    Adviento B., Corbin I.L., Widjaja F., Desachy G., Enrique N., Rosser T., et al.

  39. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism.

    Nature, December 18, 2013

    Jones W.

  40. RNA-Seq optimization with eQTL gold standards.

    BMC Genomics, December 16, 2013

    Ellis S.E., Gupta S., Ashar F.N., Bader J.S., West A.B., and D. Arking

  41. Dendritic arborization and spine dynamics are abnormal in the mouse model of MeCP2 duplication syndrome.

    J. Neurosci., December 10, 2013

    Jiang M., Ash R.T., Baker S.A., Suter B., Ferguson A., Park J., et al.

  42. Exogenous spatial attention: Evidence for intact functioning in adults with autism spectrum disorder.

    J. Vis., December 9, 2013

    Grubb M.A., M. Behrmann, Egan R., Minshew N.J., and Carrasco M.

  43. Expression of cocaine-evoked synaptic plasticity by GluN3A-containing NMDA receptors.

    Neuron, November 20, 2013

    Yuan T., Mameli M., O’Connor E.C., Dey P.N., Verpelli C., Sala C., et al.

  44. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

    Cell, November 20, 2013

    A. Willsey, S. Sanders, Li M., Dong S., Tebbenkamp A.T., R. Muhle, et al.

  45. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.

    Cell, November 20, 2013

    Parikshak N.N., Luo R., Zhang A., Won H., Lowe J.K., Chandran V., et al.

  46. Single-neuron correlates of atypical face processing in autism.

    Neuron, November 19, 2013

    Rutishauser U., Tudusciuc O., Wang S., Mamelak A.N., and Ross I.B.

  47. Soy infant formula may be associated with autistic behaviors.

    Autism Open Access, November 17, 2013

    Westmark C.J.

  48. Brain-reactive lgG correlates with autoimmunity in mothers of a child with an autism spectrum disorder.

    Mol. Psychiatry, October 31, 2013

    Brimberg L., Sadiq A., Gregersen P.K., and B. Diamond