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Funded Publications

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

  1. Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

    Hum. Genet., May 31, 2015

    Davis J.M., Searles Quick V.B., and J. Sikela

  2. An acetylcholine-activated microcircuit drives temporal dynamics of cortical activity.

    Nat. Neurosci., May 31, 2015

    Chen N., Sugihara H., and M. Sur

  3. Reductions in synaptic proteins and selective alteration of prepulse inhibition in male C57BL/6 mice after postnatal administration of a VIP receptor (VIPR2) agonist.

    Psychopharmacology (Berl), May 31, 2015

    Ago Y., Condro M.C., Tan Y.V., Ghiani C.A., Colwell C.S., Cushman J.D., et al.

  4. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.

    Elife, May 29, 2015

    Roosing S., Hofree M., Kim S., Scott E., Copeland B., Romani M., et al.

  5. Copy number variations and cognitive phenotypes in unselected populations.

    JAMA, May 25, 2015

    Männik K., Mägi R., Macé A., Cole B., Guyatt A.L., Shihab H.A., et al.

  6. Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets.

    Cell, May 20, 2015

    Macosko E.Z., Basu A., Satija R., Nemesh J., Shekhar K., Goldman M., et al.

  7. Self-motion perception in autism is compromised by visual noise but integrated optimally across multiple senses.

    Proc. Natl. Acad. Sci. USA, May 18, 2015

    Zaidel A. and R. Goin-Kochel

  8. The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.

    Mol. Autism, May 12, 2015

    Gockley J., A. Willsey, Dong S., J. Dougherty, J. Constantino, and S. Sanders

  9. Control of brain development, function, and behavior by the microbiome.

    Cell Host Microbe, May 12, 2015

    Sampson T.R. and S. Mazmanian

  10. A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology.

    Am. J. Hum. Genet., May 6, 2015

    Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., et al.

  11. Maternal immune activation in nonhuman primates alters social attention in juvenile offspring.

    Biol. Psychiatry, April 30, 2015

    Machado C.J., Whitaker A.M., Smith S.E., P. Patterson, and Bauman M.D.

  12. Cortical variability in the sensory-evoked response in autism.

    J. Autism Dev. Disord., April 30, 2015

    Haigh S.M., I. Dinstein, Minshew N., and M. Behrmann

  13. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

    Biol Psychiatry, April 30, 2015

    E. Hanson, R. Bernier, Porche K., Jackson F.I., R. Goin-Kochel, L. Green Snyder, et al.

  14. Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism."

    Biol. Psychiatry, April 30, 2015

    Duyzend M.H. and E. Eichler

  15. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

    Biol. Psychiatry, April 30, 2015

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

  16. UBE3A reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

    J. Clin. Invest., April 30, 2015

    Silva-Santos S., van Woerden G.M., Bruinsma C.F., Mientjes E., Jolfaei M.A., Distel B., et al.

  17. Somatosensory cortex functional connectivity abnormalities in autism show opposite trends, depending on direction and spatial scale.

    Brain, April 30, 2015

    Khan S., Michmizos K., Tommerdahl M., Ganesan S., Kitzbichler M.G., Zetino M., et al.

  18. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

    Nat. Genet., April 30, 2015

    Akizu N., Cantagrel V., Zaki M.S., Al-Gazali L., X. Wang, Rosti R.O., et al.

  19. Testing sensory and multisensory function in children with autism spectrum disorder.

    J. Vis. Exp, April 21, 2015

    Baum S.H., Stevenson R.A., and M. Wallace

  20. Methyl-CpG binding protein 2 regulates microglia and macrophage gene expression in response to inflammatory stimuli.

    Immunity, April 20, 2015

    J. Cronk, Derecki N.C., Ji E., Xu Y., Lampano A.E., Smirnov I., et al.

  21. Closed-loop and activity-guided optogenetic control.

    Neuron, April 7, 2015

    Grosenick L., Marshel J.H., and K. Deisseroth

  22. Loss of delta-catenin function in severe autism.

    Nature, April 1, 2015

    T. Turner, Sharma K., Oh E.C., Liu Y.P., Collins R.L., Sosa M.X., et al.

  23. Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.

    Autism Res., March 31, 2015

    Eicher J.D. and Gruen J.R.

  24. Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

    JAMA Psychiatry, March 31, 2015

    Vorstman J.A., Breetvelt E.J., Duijff S.N., Eliez S., Schneider M., Jalbrzikowski M., et al.

  25. Atypical hemispheric specialization for faces in infants at risk for autism spectrum disorder.

    Autism Res., March 31, 2015

    Keehn B., Vogel-Farley V., H. Tager-Flusberg, and C. Nelson

  26. Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals nmd modulating chromatin regulators.

    Proc. Natl. Acad. Sci. USA, March 16, 2015

    Yan Q., Weyn-Vanhentenryck S.M., Wu J., Sloan S.A., Zhang Y., Chen K., et al.

  27. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.

    Nat. Commun., March 9, 2015

    Cotney J., R. Muhle, S. Sanders, Liu L., Willsey A.J., W. Niu, et al.

  28. Sensory inputs control the integration of neurogliaform interneurons into cortical circuits.

    Nat. Neurosci., February 28, 2015

    De Marco Garcia N.V., Priya R., Tuncdemir S.N., G. Fishell, and Karayannis T.

  29. The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.

    J. Neurosci., February 17, 2015

    Pucilowska J., Vithayathil J., Tavares E.J., Kelly C., Karlo J.C., and G. Landreth

  30. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases.

    Neuron, February 17, 2015

    Lin G.N., Corominas R., Lemmens I., Yang X., Tavernier J., Hill D.E., et al.

  31. Clustering autism: Using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.

    Mol. Psychiatry, February 14, 2015

    Ellegood J., E. Anagnostou, Babineau B.A., J. Crawley, Lin L., Genestine M., et al.

  32. Transferable neuronal mini-cultures to accelerate screening in primary and induced pluripotent stem cell-derived neurons.

    Sci. Rep., February 9, 2015

    Niedringhaus M., Dumitru R., Mabb A.M., Wang Y., B. Philpot, Allbritton N.L., et al.

  33. Increased female autosomal burden of rare copy number variants in human populations and in autism families.

    Mol. Psychiatry, February 1, 2015

    Desachy G., L. Croen, Torres A.R., Kharrazi M., Delorenze G.N., Windham G.C., et al.

  34. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

    JAMA Psychiatry, January 31, 2015

    Moreno-De-Luca A., Evans D.W., Boomer K.B., E. Hanson, R. Bernier, R. Goin-Kochel, et al.

  35. Epigenetics of autism-related impairment: Copy number variation and maternal infection.

    J. Dev. Behav. Pediatr., January 31, 2015

    Mazina V., Gerdts J., Trinh S., Ankenman K., Ward T., Dennis M.Y., et al.

  36. Autism spectrum disorders: From genes to neurobiology.

    Curr. Opin. Neurobiol., January 31, 2015

    A. Willsey

  37. Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion.

    Nat. Neurosci., January 31, 2015

    D. Tian, Stoppel L.J., Heynen A.J., Lindemann L., Jaeschke G., A. Mills, et al.

  38. Illuminating circuitry relevant to psychiatric disorders with optogenetics.

    Curr. Opin. Neurobiol., January 31, 2015

    Steinberg E.E., Christoffel D.J., K. Deisseroth, and R. Malenka

  39. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

    Mol. Psychiatry, January 31, 2015

    Maillard A.M., Ruef A., Pizzagalli F., Migliavacca E., Hippolyte L., Adaszewski S., et al.

  40. The idiosyncratic brain: Distortion of spontaneous connectivity patterns in autism spectrum disorder.

    Nat. Neurosci., January 31, 2015

    Hahamy A., M. Behrmann, and Malach R.

  41. Genotype to phenotype relationships in autism spectrum disorders.

    Nat. Neurosci., January 31, 2015

    Chang J., Gilman S.R., Chiang A.H., S. Sanders, and D. Vitkup

  42. No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins.

    PLoS Genet., January 25, 2015

    Murdoch J.D., A. Gupta, S. Sanders, Walker M.F., Keaney J., T. Fernandez, et al.

  43. Exogenous and evoked oxytocin restores social behavior in the CNTNAP2 mouse model of autism.

    Sci. Transl. Med., January 20, 2015

    Peñagarikano O., Lázaro M.T., Lu X.H., Gordon A., Dong H., Lam H.A., et al.

  44. Diversity of transgenic mouse models for selective targeting of midbrain dopamine neurons.

    Neuron, January 20, 2015

    Lammel S., Steinberg E.E., Földy C., Wall N.R., Beier K., L. Luo, et al.

  45. Mapping social behavior-induced brain activation at cellular resolution in the mouse.

    Cell Rep., January 12, 2015

    Y. Kim, Venkataraju K.U., Pradhan K., Mende C., Taranda J., Turaga S.C., et al.

  46. The discovery of integrated gene networks for autism and related disorders.

    Genome Res, January 11, 2015

    Hormozdiari F., Penn O., Borenstein E., and E. Eichler

  47. Understanding the gap between cognitive abilities and daily living skills in adolescents with autism spectrum disorders with average intelligence.

    Autism, December 31, 2014

    Duncan A.W. and S. Bishop

  48. Maternal gesture use and language development in infant siblings of children with autism spectrum disorder.

    J. Autism Dev. Disord., December 31, 2014

    Talbott M.R., C. Nelson, and H. Tager-Flusberg