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Funded Publications

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

  1. Disrupted action perception in autism: Behavioral evidence, neuroendophenotypes, and diagnostic utility.

    Dev. Cogn. Neurosci., December 31, 2011

    Kaiser M.D. and K. Pelphrey

  2. Genetic and cognitive windows into circuit mechanisms of psychiatric disease.

    Trends Neurosci., December 31, 2011

    Arguello P.A. and J. Gogos

  3. Gephyrin-mediated gamma-aminobutyric acid type A and glycine receptor clustering relies on a common binding site.

    J. Biol. Chem., December 8, 2011

    Maric H.M., Mukherjee J., Tretter V., S. Moss, and Schindelin H.

  4. Neurobiology of obsessive-compulsive disorder: Insights into neural circuitry dysfunction through mouse genetics.

    Curr. Opin. Neurobiol., November 30, 2011

    Ting J.T. and G. Feng

  5. Cognitive consilience: primate non-primary neuroanatomical circuits underlying cognition.

    Front. Neuroanat., November 30, 2011

    Solari S.V.H. and Stoner R.

  6. Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: Focus on MeCP2 and MET.

    Curr. Opin. Neurobiol., November 30, 2011

    Shepherd G.M. and Katz D.M.

  7. Mutations causing syndromic autism define an axis of synaptic pathophysiology.

    Nature, November 22, 2011

    Auerbach B.D., Osterweil E.K., and M. Bear

  8. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

    Hum. Mol. Genet., November 14, 2011

    Celestino-Soper P.B.S., Shaw C.A., S. Sanders, Li J., Murtha M.T., Ercan-Sencicek A.G., et al.

  9. Neuron number and size in prefrontal cortex of children with autism.

    JAMA, November 8, 2011

    E. Courchesne, Mouton P.R., Calhoun M.E., Semendeferi K., Ahrens-Barbeau C., Hallet M.J., et al.

  10. Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

    PLOS Genet., October 31, 2011

    S. Girirajan, Brkanac Z., Coe B.P., Baker C., Vives L., Vu T.H., et al.

  11. The conundrums of understanding genetic risks for autism spectrum disorders.

    Nat. Neurosci., October 29, 2011

    P. Levitt

  12. Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.

    Proc. Natl. Acad. Sci. USA, October 10, 2011

    Horev G., Ellegood J., J. Lerch, Son Y-E.E., Muthuswamy L., Vogel H., et al.

  13. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

    Am. J. Hum. Genet., October 6, 2011

    M. Talkowski, Mullegama S.V., Rosenfeld J.A., van Bon B.W., Shen Y., Repnikova E.A., et al.

  14. The neurexin ligands, neuroligins and leucine-rich repeat transmembrane proteins, perform convergent and divergent synaptic functions in vivo.

    Proc. Natl. Acad. Sci. USA, October 3, 2011

    Soler-Llavina G.J., Fuccillo M.V., Ko J., T. Südhof, and R. Malenka

  15. Modeling human disease in humans: The ciliopathies.

    Cell, September 29, 2011

    G. Novarino, Akizu N., and J. Gleeson

  16. Translating glutamate: from pathophysiology to treatment.

    Sci. Transl. Med., September 27, 2011

    Javitt D.C., Schoepp D., Kalivas P.W., Volkow N.D., Zarate C., Merchant K., et al.

  17. A resource of Cre driver lines for genetic targeting of GABAergic neurons in cerebral cortex.

    Neuron, September 21, 2011

    Taniguchi H., He M., Wu P., Kim S., Paik R., Sugino K., et al.

  18. Mouse model of Timothy syndrome recapitulates triad of autistic traits.

    Proc. Natl. Acad. Sci. U.S.A., September 12, 2011

    Bader P.L., Faizi M., Kim L.H., Owen S.F., Tadross M.R., Alfa R.W., et al.

  19. Genome-wide expression assay comparison across frozen and fixed postmortem brain tissue samples.

    BMC Genomics, September 9, 2011

    Chow M.L., Li H-R., Winn M.E., April C., Barnes C.C., A. Wynshaw-Boris, et al.

  20. Basal ganglia disorders associated with imbalances in the striatal striosome and matrix compartments.

    Front. Neuroanat., September 6, 2011

    Crittenden J.R. and A.M. Graybiel.

  21. miR-132, an experience-dependent microRNA, is essential for visual cortex plasticity.

    Nat. Neurosci., September 3, 2011

    Mellios N., Sugihara H., Castro J., Banerjee A., Le C., Kumar A., et al.

  22. A pilot study to improve venipuncture compliance in children and adolescents with autism spectrum disorders.

    J. Dev. Behav. Pediatr., August 31, 2011

    Davit C.J., Hundley R.J., Bacic J.D., and E. Hanson

  23. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

    Hum. Mol. Genet., August 31, 2011

    Schaaf C.P., Sabo A., Sakai Y., Crosby J., Muzny D., Hawes A., et al.

  24. Genetics of autism spectrum disorders.

    Trends Cogni. Sci., August 31, 2011

    D. Geschwind

  25. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

    Nature, August 30, 2011

    Jacquemont S., A. Reymond, Zufferey F., Harewood L., Walters R.G., Kutalik Z., et al.

  26. Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function.

    Proc. Natl. Acad. Sci. USA, August 15, 2011

    Etherton M., Földy C., Sharma M., Tabuchi K., Liu X., Shamloo M., et al.

  27. The role of adaptive behavior in autism spectrum disorders: Implications for functional outcome.

    J. Autism Dev. Disord., July 31, 2011

    S. Kanne, Gerber A.J., Quirmbach L.M., Sparrow S.S., Cicchetti D.V., and C. Saulnier

  28. TSC1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle.

    Genes Dev., July 31, 2011

    Zhou J., Shrikhande G., Xu J., McKay R.M., Burns D.K., Johnson J.E., et al.

  29. Differences between neural activity in prefrontal cortex and striatum during learning of novel abstract categories.

    Neuron, July 27, 2011

    Antzoulatos E.G. and E. Miller

  30. Neural processing of repetition and non-repetition grammars in 7- and 9-month-old infants.

    Front. Psychol., July 24, 2011

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

  31. Neuroligins/LRRTMs prevent activity- and Ca2+/calmodulin-dependent synapse elimination in cultured neurons.

    J. Cell Biol., July 24, 2011

    Ko J., Soler-Llavina G.J., Fuccillo M.V., R. Malenka, and T. Südhof

  32. Aggression in children and adolescents with ASD: prevalence and risk factors.

    J. Autism Dev. Disord., June 30, 2011

    S. Kanne and M. Mazurek

  33. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain.

    PLoS Genet., June 30, 2011

    Vernes S.C., Oliver P.L., Spiteri E., Lockstone H.E., Puliyadi R., Taylor J.M., et al.

  34. How grossed out are you? The neural bases of emotion regulation from childhood to adolescence.

    Dev. Cogn. Neurosci., June 30, 2011

    Pitskel N.B., Bolling D.Z., Kaiser M.D., Crowley M.J., and K. Pelphrey

  35. Gene‐based tests of association

    PLoS Genet., June 30, 2011

    Huang H., Chanda P., Alonso A., Bader J.S., and D. Arking

  36. Communication impairments in mice lacking Shank1: reduced levels of ultrasonic vocalizations and scent marking behavior.

    PLoS ONE, June 8, 2011

    Wöhr M., Roullet F.I., Hung A.Y., M. Sheng, and J. Crawley

  37. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

    Neuron, June 8, 2011

    S. Sanders, Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., et al.

  38. Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

    Neuron, June 8, 2011

    Levy D., Ronemus M., Yamrom B., Lee Y-H., Leotta A., Kendall J., et al.

  39. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.

    Neuron, June 8, 2011

    Gilman S.R., I. Iossifov, Levy D., Ronemus M., M. Wigler, and D. Vitkup

  40. An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus.

    EMBO J., June 2, 2011

    Etherton M.R., Tabuchi K., Sharma M., Ko J., and Südhof T.C.

  41. Glutamate induces de novo growth of functional spines in developing cortex.

    Nature, June 1, 2011

    Kwon H-B. and B. Sabatini

  42. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

    Nat. Genet., May 31, 2011

    B. O'Roak, Deriziotis P., C. Lee, Vives L., Schwartz J.J., S. Girirajan, et al.

  43. CNTNAP2 variants affect early language development in the general population.

    Genes Brain Behav., May 31, 2011

    Whitehouse A.J.O., Bishop D.V.M., Ang Q.W., Pennell C.E., and S. Fisher

  44. Disrupted neural synchronization in toddlers with autism.

    Neuron, May 22, 2011

    I. Dinstein, K. Pierce, Eyler L., Solso S., Malach R., M. Behrmann, et al.

  45. Neurexin-neuroligin transsynaptic interaction mediates learning-related synaptic remodeling and long-term facilitation in aplysia.

    Neuron, May 11, 2011

    Y. Choi, Li H-L., Kassabov S.R., Jin I., Puthanveettil S.V., Karl K.A., et al.

  46. Axon selection: from a polarized cytoplasm to a migrating neuron.

    Commun. Integr. Biol., April 30, 2011

    de Anda F.C. and L. Tsai

  47. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.

    Nature, April 27, 2011

    Peça J., Feliciano C., Ting J.T., Wang W., Wells M.F., Venkatraman T.N., et al.

  48. Neuronal activity is required for the development of specific cortical interneuron subtypes.

    Nature, April 20, 2011

    De Marco García N.V., Karayannis T., and G. Fishell