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Funded Publications

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

  1. Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.

    Nature, March 31, 2010

    Sigurdsson T., Stark K.L., M. Karayiorgou, J. Gogos, and Gordon J.A.

  2. Clinical genetic testing for patients with autism spectrum disorders.

    Pediatrics, March 31, 2010

    Shen Y., Dies K.A., Holm I.A., Bridgemohan C., Sobeih M.M., Caronna E.B., et al.

  3. Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.

    Mol. Autism, March 24, 2010

    Sousa I., Clark T.G., Holt R., Pagnamenta A.T., Mulder E.J., Minderaa R.B., et al.

  4. Distributed neural system for general intelligence revealed by lesion mapping.

    Proc. Natl. Acad. Sci. USA, March 8, 2010

    Gläscher J., Rudrauf D., Colom R., Paul L.K., Tranel D., and Damasio H.

  5. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

    Nat. Genet., February 28, 2010

    Shen J., Gilmore E.C., Marshall C.A., Haddadin M., Reynolds J.J., Eyaid W., et al.

  6. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

    Nat. Genet., February 28, 2010

    S. Girirajan, Rosenfeld J.A., G. Cooper, Antonacci F., Siswara P., Itsara A., et al.

  7. SFARI Gene: An evolving database for the autism research community.

    Dis. Model Mech., February 28, 2010

    Banerjee-Basu S. and A. Packer

  8. Cognition in mouse models of schizophrenia susceptibility genes.

    Schizophr. Bull., February 28, 2010

    Arguello P.A. and J. Gogos

  9. Amygdala damage eliminates monetary loss aversion.

    Proc. Natl. Acad. Sci. USA, February 22, 2010

    De Martino B. and Camerer C.F.

  10. Common origins of hippocampal Ivy and nitric oxide synthase expressing neurogliaform cells.

    J. Neurosci., February 9, 2010

    Tricoire L., Pelkey K.A., Daw M.I., Sousa V.H., Miyoshi G., Jeffries B., et al.

  11. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior.

    J. Neurosci., February 9, 2010

    Blundell J., Blaiss C.A., Etherton M.R., Espinosa F., Tabuchi K., Walz C., et al.

  12. Genetic fate mapping reveals that the caudal ganglionic eminence produces a large and diverse population of superficial cortical interneurons.

    J. Neurosci., February 2, 2010

    Miyoshi G., Hjerling-Leffler J., Karayannis T., Sousa V.H., Butt S.J.B., Battiste J., et al.

  13. Friendship and internalizing symptoms among children and adolescents with ASD.

    J. Autism Dev. Disord., January 31, 2010

    M. Mazurek and S. Kanne

  14. Inactivation of primate superior colliculus impairs covert selection of signals for perceptual judgments.

    Nat. Neurosci., January 31, 2010

    Lovejoy L.P. and R. Krauzlis

  15. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.

    Nature, January 10, 2010

    Chao H-T., Chen H., Samaco R.C., Xue M., M. Chahrour, Yoo J., et al.

  16. Seeing Human Movement as Inherently Social.

    The Science of Social Vision, January 1, 2010

    M. Shiffrar, Kaiser M.D., and Chouchourelou A.

  17. Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report.

    Pediatrics, December 31, 2009

    Buie T., Campbell D.B., Fuchs G.J., Furuta G.T., Levy J., Vandewater J., et al.

  18. LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation.

    Neuron, December 23, 2009

    Ko J., Fuccillo M.V., R. Malenka, and T. Südhof

  19. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.

    Proc. Natl. Acad. Sci. USA, December 21, 2009

    Samaco R.C., Mandel-Brehm C., Chao H-T., Ward C.S., Fyffe-Maricich S.L., Ren J., et al.

  20. Damage to association fiber tracts impairs recognition of the facial expression of emotion.

    J. Neurosci., December 1, 2009

    Philippi C.L., Mehta S., Grabowski T., and Rudrauf D.

  21. Intact rapid detection of fearful faces in the absence of the amygdala.

    Nat. Neurosci., November 30, 2009

    Tsuchiya N., Moradi F., Felsen C., and Yamazaki M.

  22. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

    Am. J. Hum. Genet., November 30, 2009

    Mochida G.H., Mahajnah M., Hill A.D., Basel-Vanagaite L., Gleason D., Hill R.S., et al.

  23. Personal space regulation by the human amygdala.

    Nat. Neurosci., November 30, 2009

    Kennedy D.P., Gläscher J., and Tyszka J.M.

  24. Neuroligin-2 deletion selectively decreases inhibitory synaptic transmission originating from fast-spiking but not from somatostatin-positive interneurons.

    J. Neurosci., November 3, 2009

    J. Gibson, K. Huber, and Südhof T.C.

  25. Differential gene expression in the developing lateral geniculate nucleus and medial geniculate nucleus reveals novel roles for ZIC4 and FOXP2 in visual and auditory pathway development.

    J. Neurosci., October 27, 2009

    Horng S., Kreiman G., Ellsworth C., D. Page, Blank M., K. Millen, et al.

  26. Neuroligin-1 performs neurexin-dependent and neurexin-independent functions in synapse validation.

    EMBO J., October 20, 2009

    Ko J., C. Zhang, Arac D., Boucard A.A. Brunger A.T., and Südhof T.C.

  27. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

    Neurology, October 19, 2009

    Poduri A., Wang Y., Gordon D., Barral-Rodriguez S., Barker-Cummings C., Ulgen A., et al.

  28. Mouse neurexin-1alpha deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments.

    Proc. Natl. Acad. Sci. USA, October 19, 2009

    Etherton M.R., Blaiss C.A., Powell C.M., and Südhof T.C.

  29. A genome-wide linkage and association scan reveals novel loci for autism.

    Nature, October 7, 2009

    L. Weiss, D. Arking, Gene Discovery Project of Johns Hopkins & the Autism Consortium, M. Daly, and A. Chakravarti

  30. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.

    Eur. J. Hum. Genet., September 30, 2009

    Sykes N.H., Toma C., Wilson N., Volpi E.V., Sousa I., Pagnamenta A.T., et al.

  31. The visual perception of motion by observers with autism spectrum disorders: a review and synthesis.

    Psychon. Bull. Rev., September 30, 2009

    Kaiser M.D. and M. Shiffrar

  32. A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.

    J. Neurosci., September 1, 2009

    C. Zhang, Milunsky J.M., Newton S., Ko J., Zhao G., Maher T.A., et al.

  33. Reduced conditioned fear response in mice that lack DLX1 and show subtype-specific loss of interneurons.

    J. Neurodev. Disord., August 31, 2009

    Mao R., D. Page, Merzlyak I., Kim C., L. Tecott, P. Janak, et al.

  34. The cell-intrinsic requirement of Sox6 for cortical interneuron development.

    Neuron, August 26, 2009

    R. Batista-Brito, Rossignol E., Hjerling-Leffler J., Denaxa M., Wegner M., Lefebvre V., et al.

  35. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

    Hum. Mol. Genet., June 30, 2009

    Ben-Shachar S., M. Chahrour, Thaller C., Shaw C.A., and H. Zoghbi

  36. Ube3a is required for experience-dependent maturation of the neocortex.

    Nat. Neurosci., May 31, 2009

    Yashiro K., Riday T.T., Condon K.H., Roberts A.C., Bernardo D.R., Prakash R., et al.

  37. MET and autism susceptibility: family and case-control studies.

    Eur. J. Hum. Genet., May 31, 2009

    Sousa I., Clark T.G., Toma C., Kobayashi K., Choma M., Holt R., et al.

  38. Advances in understanding visual cortex plasticity.

    Curr. Opin. Neurobiol., May 31, 2009

    McCoy P.A., Huang H-S., and B. Philpot

  39. Common circuit defect of excitatory-inhibitory balance in mouse models of autism.

    J. Neurodev. Disord., May 31, 2009

    Gogolla N., LeBlanc J.J., Quast K.B., Südhof T.C., M. Fagiolini, and T. Hensch

  40. Common genetic variants on 5p14.1 associate with autism spectrum disorders.

    Nature, May 27, 2009

    Wang K., Zhang H., Ma D., M. Bucan, Glessner G.T., Abrahams B.S., et al.

  41. A 15q13.3 microdeletion segregating with autism.

    Eur. J. Hum. Genet., April 30, 2009

    Pagnamenta A.T., Wing K., Sadighi Akha E., Knight S.J.L., Bölte S., Schmötzer G., et al.

  42. The visual perception of human and animal motion in point-light displays.

    Soc. Neurosci., March 31, 2009

    Pinto J. and M. Shiffrar

  43. Intrinsic patterning and experience-dependent mechanisms that generate eye-specific projections and binocular circuits in the visual pathway.

    Curr. Opin. Neurobiol., March 31, 2009

    Leamey C.A., Van Wart A., and M. Sur

  44. Role of ordinal contrast relationships in face encoding.

    Proc. Natl. Acad. Sci. USA, March 30, 2009

    Gilad S. and Meng M.

  45. Distinct genetic risk based on association of MET in families with co-occurring autism and gastrointestinal conditions.

    Pediatrics, February 28, 2009

    Campbell D.B., Buie T.M., Winter H., Bauman M., J. Sutcliffe, Perrin J.M., et al.

  46. Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific PTEN knock-out mice.

    J. Neurosci., February 10, 2009

    Zhou J., Blundell J., Ogawa S., Kwon C-H., Zhang W., Sinton C., et al.

  47. Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice.

    Proc. Natl. Acad. Sci. USA, February 9, 2009

    Tropea D., Giacometti E., Wilson N.R., Beard C., McCurry C., Fu D.D., et al.

  48. Haploinsufficiency for Pten and serotonin transporter cooperatively influences brain size and social behavior.

    Proc. Natl. Acad. Sci. USA, February 9, 2009

    D. Page, Kuti O.J., Prestia C., and M. Sur