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Funded Publications

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

  1. Alternative splicing of the pituitary adenylate cyclase-activating polypeptide receptor PAC1: Mechanisms of fine tuning of brain activity.

    Front. Endocrinol. (Lausanne), May 20, 2013

    Blechman J. and G. Levkowitz

  2. Autism-associated neuroligin-3 mutations commonly disrupt tonic endocannabinoid signaling.

    Neuron, May 7, 2013

    Földy C., R. Malenka, and T. Südhof

  3. Pitt-Hopkins syndrome: Intellectual disability due to loss of TCF4-regulated gene transcription.

    Exp. Mol. Med., May 2, 2013

    J. Sweatt

  4. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.

    Neurogenetics, April 30, 2013

    Kong S.W., Shimizu-Motohashi Y., Campbell M.G., Lee I.H., Collins C.D., Brewster S.J., et al.

  5. Genome-wide profiling of 5-formylcytosine reveals its roles in epigenetic priming.

    Cell, April 24, 2013

    Song C.X., Szulwach K.E., Dai Q., Fu Y., Mao S.Q., Lin L., et al.

  6. Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis.

    Lancet, April 19, 2013

    Cross-Disorder Group of the Psychiatric Genomics Consortium.

  7. Neural processing of facial identity and emotion in infants at high-risk for autism spectrum disorders.

    Front. Hum. Neurosci., April 8, 2013

    Fox S.E., Wagner J.B., Shrock C.L., H. Tager-Flusberg, and C. Nelson

  8. Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion.

    Am. J. Med. Genet. A., March 31, 2013

    Sagar A., Bishop J.R., Tessman D.C., Guter S., Martin C.L., and E. Cook

  9. Endogenous spatial attention: Evidence for intact functioning in adults with autism.

    Autism Res., March 31, 2013

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

  10. Mechanisms and therapeutic challenges in autism spectrum disorders: Insights from Rett syndrome.

    Curr. Opin. Neurol., March 31, 2013

    Castro J., Mellios N., and M. Sur

  11. Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

    Curr. Opin. Neurol., March 31, 2013

    Baek S.T., Gibbs E.M., J. Gleeson, and Mathern G.W.

  12. Axonal translation of beta-catenin regulates synaptic vesicle dynamics.

    J. Neurosci., March 26, 2013

    A. Taylor, Wu J., Tai H.C., and Schuman E.M.

  13. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

    Mol. Autism, March 19, 2013

    Bahl S., Chiang C., Beauchamp R.L., Neale B.M., M. Daly, J. Gusella, et al.

  14. Dysregulation of synaptic plasticity precedes appearance of morphological defects in a PTEN conditional knockout mouse model of autism.

    Proc. Natl. Acad. Sci. USA, March 18, 2013

    Takeuchi K., Gertner M.J., Zhou J., L. Parada, Bennett M.V., and R. Zukin

  15. A neural circuit for memory specificity and generalization.

    Science, March 14, 2013

    Xu W. and T. Südhof

  16. Reduced neural sensitivity to social stimuli in infants at risk for autism.

    Proc. Biol. Sci., March 12, 2013

    Lloyd-Fox S., Blasi A., Elwell C.E., T. Charman, D. Murphy, and M. Johnson

  17. Whole-exome sequencing identifies mutated C12ORF57 in recessive corpus callosum hypoplasia.

    Am. J. Hum. Genet., March 6, 2013

    Akizu N., Shembesh N.M., Ben-Omran T., Bastaki L., Al-Tawari A., Zaki M.S., et al.

  18. By hook or by crook: Multifaceted DNA-binding properties of MeCP2.

    Cell, February 27, 2013

    Shin J., G. Ming, and H. Song

  19. The disruption of CELF6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.

    J. Neurosci., February 12, 2013

    J. Dougherty, Maloney S.E., Wozniak D.F., Rieger M.A., Sonnenblick L., G. Coppola, et al.

  20. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

    Am. J. Hum. Genet., February 6, 2013

    S. Girirajan, Dennis M.Y., Baker C., Malig M., Coe B.P., Campbell C.D., et al.

  21. The behavioral phenotype in MeCP2 duplication syndrome: A comparison to idiopathic autism.

    Autism Res., January 31, 2013

    Peters S.U., Hundley R.J., Wilson A.K., Z. Warren, Vehorn A., Carvalho C.M., et al.

  22. Effects of child characteristics on the Autism Diagnostic Interview-Revised: Implications for use of scores as a measure of ASD severity.

    J. Autism Dev. Disord., January 31, 2013

    Hus V. and C. Lord

  23. Factors influencing scores on the Social Responsiveness Scale.

    J. Child Psychol. Psychiatry, January 31, 2013

    Hus V., S. Bishop, Gotham K., Huerta M., and C. Lord

  24. Exploring the relationship between anxiety and insistence on sameness in autism spectrum disorders.

    Autism Res., January 31, 2013

    Gotham K., S. Bishop, Hus V., Huerta M., Lund S., Buja A., et al.

  25. Using whole-exome sequencing to identify inherited causes of autism.

    Neuron, January 22, 2013

    T. Yu, M. Chahrour, Coulter M.E., Jiralerspong S., Okamura-Ikeda K., Ataman B., et al.

  26. Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders.

    Neuron, January 22, 2013

    Lim E.T., Raychaudhuri S., S. Sanders, Stevens C., Sabo A., MacArthur D.G., et al.

  27. Normal binocular rivalry in autism: Implications for the excitation/inhibition imbalance hypothesis.

    Vision Res., January 22, 2013

    Said C.P., Egan R.D., Minshew N.J., and M. Behrmann

  28. Function and regulation of AUTS2, a gene implicated in autism and human evolution.

    PLoS Genet., January 16, 2013

    Oksenberg N., Stevison L., Wall J.D., and N. Ahituv

  29. MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development.

    Proc. Natl. Acad. Sci. USA, January 1, 2013

    K. Lee, Y. Kim, Lee S.J., Qiang Y., Lee D., Lee H.W., et al.

  30. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

    Science, December 20, 2012

    B. O'Roak, Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelp, et al.

  31. Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95.

    Cell, December 20, 2012

    N. Tsai, Wilkerson J.R., Guo W., Maksimova M.A., DeMartino G.N., C. Cowan, et al.

  32. The autism sequencing consortium: Large-scale, high-throughput sequencing in autism spectrum disorders.

    Neuron, December 19, 2012

    J. Buxbaum, M. Daly, B. Devlin, Lehner T., K. Roeder, and Autism Sequencing Consortium.

  33. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells.

    Nature, December 19, 2012

    A. Abyzov, Mariani J., Palejev D., Zhang Y., Haney M.S., Tomasini L., et al.

  34. Genome-wide DNA hydroxymethylation changes are associated with neurodevelopmental genes in the developing human cerebellum.

    Hum. Mol. Genet., December 14, 2012

    Wang T., Pan Q., Lin L., Szulwach K.E., Song C.X., He C., et al.

  35. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.

    PLoS One, December 4, 2012

    Kong S.W., Collins C.D., Shimizu-Motohashi Y., Holm I.A., Campbell M.G., Lee I.H., et al.

  36. PTEN signaling in autism spectrum disorders.

    Curr. Opin. Neurobiol., November 30, 2012

    Zhou J. and L. Parada

  37. Microglia in the cerebral cortex in autism.

    J. Autism Dev. Disord., November 30, 2012

    Tetreault N.A., Hakeem A.Y., Jiang S., Williams B.A., Allman E., Wold B.J., et al.

  38. Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome.

    J. Clin. Invest., November 30, 2012

    Riday T.T., Dankoski E.C., Krouse M.C., Fish E.W., Walsh P.L., Han J.E., et al.

  39. Neuroligin-1-dependent competition regulates cortical synaptogenesis and synapse number.

    Nat. Neurosci., November 10, 2012

    Kwon H.B., Kozorovitskiy Y., Oh W.J., R. Peixoto, Akhtar N., Saulnier J.L., et al.

  40. Input-specific control of reward and aversion in the ventral tegmental area.

    Nature, November 7, 2012

    Lammel S., Lim B.K., Ran C., Huang K.W., Betley M.J., Tye K.M., et al.

  41. Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission.

    J. Neurosci., November 6, 2012

    Chen Y.C., Lin Y.Q., Banerjee S., Venken K., Li J., Ismat A., et al.

  42. Neurobiology meets genomic science: The promise of human-induced pluripotent stem cells.

    Dev. Psychopathol., October 31, 2012

    Stevens H.E., Mariani J., G. Coppola, and F. Vaccarino

  43. Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

    Dis. Model Mech., October 31, 2012

    Blaker-Lee A., Gupta S., McCammon J.M., De Rienzo G., and H. Sive

  44. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

    Science, October 18, 2012

    G. Novarino, El-Fishawy P., Kayserili H., Meguid N.A., Scott E.M., Schroth J., et al.

  45. Common genetic variants, acting additively, are a major source of risk for autism.

    Mol. Autism, October 14, 2012

    Klei L., S. Sanders, Murtha M.T., Hus V., Lowe J.K., A. Willsey, et al.

  46. Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

    N. Engl. J. Med., October 3, 2012

    S. Girirajan, Rosenfeld J.A., Coe B.P., Parikh S., Friedman N., Goldstein A., et al.

  47. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

    J. Med. Genet., September 30, 2012

    Zufferey F., E. Sherr, Beckmann N.D., E. Hanson, Maillard A.M., Hippolyte L., et al.

  48. Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders.

    Am. J. Psychiatry, September 30, 2012

    Huerta M., S. Bishop, Duncan A., Hus V., and C. Lord