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Funded Publications

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

  1. Cortical evolution: Judge the brain by its cover.

    Neuron, October 29, 2013

    D. Geschwind and Rakic P.

  2. Stereotypical alterations in cortical patterning are associated with maternal illness-induced placental dysfunction.

    J. Neurosci., October 22, 2013

    Carpentier P.A., Haditsch U., Braun A.E., Cantu A.V., Moon H.M., Price R.O., et al.

  3. Defining the contribution of CNTNAP2 to autism susceptibility.

    PLoS One, October 16, 2013

    Sampath S., Bhat S., Gupta S., Doan B.Q., O'Connor A., West A.B., et al.

  4. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.

    Biol. Psychiatry, October 14, 2013

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

  5. Disrupting the clustering of GABAA receptor alpha-2 subunits in the frontal cortex leads to reduced gamma-power and cognitive deficits.

    Proc. Natl. Acad. Sci. USA, October 7, 2013

    Hines R.M., Hines D.J., Houston C.M., Mukherjee J., Haydon P.G., Tretter V., et al.

  6. Transmission disequilibrium of small CNVs in simplex autism.

    Am. J. Hum. Genet., October 2, 2013

    Krumm N., B. O'Roak, Karakoc E., Mohajeri K., Nelson B., Vives L., et al.

  7. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons.

    Cell Stem Cell, October 2, 2013

    Y. Li, Wang H., Muffat J., Cheng A.W., Orlando D.A., Lovén J., et al.

  8. SFARI Gene 2. A community-driven knowledgebase for the autism spectrum disorders (ASDs).

    Mol. Autism, October 2, 2013

    Abrahams B.S., D. Arking, Campbell D.B., H. Mefford, E. Morrow, L. Weiss, et al.

  9. Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.

    Neuron, October 1, 2013

    Ouyang Q., Lizarraga S.B., Schmidt M., Yang U., Gong J., J. Kauer, et al.

  10. Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts.

    Mol. Psychiatry, September 30, 2013

    Moreno-De-Luca D., S. Sanders, Willsey A.J., Mulle J.G., Lowe J.K., D. Geschwind, et al.

  11. Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism.

    Mol. Psychiatry, September 30, 2013

    Ben-David E. and S. Shifman

  12. DNA Modifications and neurological disorders

    Neurotherapeutics, September 30, 2013

    Weng Y.L., An R., Shin J., H. Song, and G. Ming

  13. The role of AUTS2 in neurodevelopment and human evolution.

    Trends Genet., September 30, 2013

    Oksenberg N. and N. Ahituv

  14. Practice makes improvement: How adults with autism out-perform others in a naturalistic visual search task.

    J. Autism Dev. Disord., September 30, 2013

    Gonzalez C., Martin J.M., Minshew N.J., and M. Behrmann

  15. The ability of BDNF to modify neurogenesis and depressive-like behaviors is dependent upon phosphorylation of tyrosine residues 365/367 in the GABA(A)-receptor gamma2 subunit.

    J. Neurosci., September 24, 2013

    Vithlani M., Hines R.M., Zhong P., Terunuma M., Hines D.J., Revilla-Sanchez R., et al.

  16. Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome.

    BMC Med. Genomics, September 23, 2013

    Campbell M.G., Kohane I.S., and Kong S.W.

  17. TET1 controls CNS 5-methylcytosine hydroxylation, active DNA demethylation, gene transcription, and memory formation.

    Neuron, September 17, 2013

    Kaas G.A., Zhong C., Eason D.E., Ross D.L., Vachhani R.V., G. Ming, et al.

  18. Social reward requires coordinated activity of nucleus accumbens oxytocin and serotonin.

    Nature, September 11, 2013

    Dölen G., Darvishzadeh A., Huang K.W., and R. Malenka

  19. Face recognition deficits in autism spectrum disorders are both domain specific and process specific.

    PLoS One, September 10, 2013

    Weigelt S., K. Koldewyn, and N. Kanwisher

  20. Topoisomerases facilitate transcription of long genes linked to autism.

    Nature, September 4, 2013

    King I.F., Yandava C.N., Mabb A.M., Hsiao J.S., Huang H.S., Pearson B.L., et al.

  21. DNA methylation presents distinct binding sites for human transcription factors.

    eLife, September 2, 2013

    Hu S., Wan J., Su Y., Song Q., Zeng Y., Nguyen H.N., et al.

  22. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

    Nat. Genet., August 31, 2013

    Cross-Disorder Group of the Psychiatric Genomics Consortium.

  23. Predicting language and social outcomes at age 5 for later-born siblings of children with autism spectrum disorders.

    Autism, August 31, 2013

    Malesa E., Foss-Feig J., Yoder P., Z. Warren, Walden T., and Stone W.L.

  24. Postsynaptic FMRP bidirectionally regulates excitatory synapses as a function of developmental age and MEF2 activity.

    Mol. Cell Neurosci., August 31, 2013

    Zang T., Maksimova M.A., C. Cowan, Bassel-Duby R., Olson E.N., and K. Huber

  25. Targeting the mitochondrial electron transport chain in autism, a systematic review and synthesis of a novel therapeutic approach.

    Mitochondrion, August 31, 2013

    Ghanizadeh A., M. Berk, Farrashbandi H., Alavi Shoushtari A., and Villagonzalo K.A.

  26. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

    PLoS Genet., August 14, 2013

    X. He, S. Sanders, Liu L., De Rubeis S., Lim E.T., J. Sutcliffe, et al.

  27. White matter microstructure and atypical visual orienting in 7-month-olds at risk for autism.

    Am. J. Psychiatry, July 31, 2013

    J. Elison, Paterson S.J., Wolff J.J., Reznick J.S., Sasson N.J., Gu H., et al.

  28. Epilepsy in simplex autism pedigrees is much lower than the rate in multiplex autism pedigrees.

    Biol. Psychiatry, July 31, 2013

    Amiet C., Gourfinkel-An I., Laurent C., Carayol J., Génin B., Leguern E., et al.

  29. Clustered protocadherins.

    Development, July 31, 2013

    Chen W.V. and T. Maniatis

  30. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

    Cell, July 31, 2013

    Akizu N., Cantagrel V., Schroth J., Cai N., Vaux K., McCloskey D., et al.

  31. Co-expression profiling of autism genes in the mouse brain.

    PLoS Comput. Biol., July 24, 2013

    Menashe I., Grange P., Larsen E.C., Banerjee-Basu S., and P. Mitra

  32. Fast association tests for genes with FAST.

    PLoS One, July 22, 2013

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

  33. An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.

    Hum. Mol. Genet., July 14, 2013

    Cheng Y., Quinn J.F., and L. Weiss

  34. Intellectual disability is associated with increased runs of homozygosity in simplex autism.

    Am. J. Hum. Genet., July 10, 2013

    Gamsiz E.D., Viscidi E.W., Frederick A.M., Nagpal S., S. Sanders, Murtha M.T., et al.

  35. Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking.

    Cell, July 2, 2013

    Aoto J., Martinelli D.C., R. Malenka, Tabuchi K., and T. Südhof

  36. Atypical lateralization of ERP response to native and non-native speech in infants at risk for autism spectrum disorder.

    Dev. Cogn. Neurosci., June 30, 2013

    Seery A.M., Vogel-Farley V., H. Tager-Flusberg, and C. Nelson

  37. A novel stratification method in linkage studies to address inter- and intra-family heterogeneity in autism.

    PLoS One, June 25, 2013

    Talebizadeh Z., D. Arking, and V. Hu

  38. PI(4,5)P2-dependent and Ca2+-regulated ER-PM interactions mediated by the extended synaptotagmins

    Cell, June 19, 2013

    Giordano F., Saheki Y., Idevall-Hagren O., Colombo S.F., Pirruccello M., Milosevic I., et al.

  39. Target inference from collections of genomic intervals.

    Proc. Natl. Acad. Sci. USA, June 17, 2013

    Krasnitz A., Sun G., Andrews P., and M. Wigler

  40. De novo mutations in histone-modifying genes in congenital heart disease.

    Nature, June 12, 2013

    Zaidi S., Choi M., Wakimoto H., Ma L., Jiang J., Overton J.D., et al.

  41. Optogenetic stimulation of lateral orbitofronto-striatal pathway suppresses compulsive behaviors.

    Science, June 6, 2013

    Burguière E., Monteiro P., G. Feng, and A. Graybiel

  42. Patterns and predictors of anxiety among siblings of children with autism spectrum disorders.

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

    Shivers C.M., Deisenroth L.K., and Taylor J.L.

  43. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

    PLoS Genet., May 31, 2013

    Noh H.J., Ponting C.P., Boulding H.C., Meader S., Betancur C., J. Buxbaum, et al.

  44. Brief report: Prevalence of attention deficit/hyperactivity disorder among individuals with an autism spectrum disorder.

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

    E. Hanson, Cerban B.M., Slater C.M., Caccamo L.M., Bacic J., and Chan E.

  45. Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders.

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

    S. Bishop, Hus V., Duncan A., Huerta M., Gotham K., Pickles A., et al.

  46. The role of imitation in the observed heterogeneity in EEG mu rhythm in autism and typical development.

    Brain Cogn., May 31, 2013

    R. Bernier, Aaronson B., and McPartland J.

  47. Mitochondrial abnormalities in temporal lobe of autistic brain.

    Neurobiol. Dis., May 31, 2013

    G. Tang, Gutierrez Rios P., Kuo S.H., Akman H.O., Rosoklija G., Tanji K., et al.

  48. CLARITY for mapping the nervous system.

    Nat. Methods, May 31, 2013

    Chung K. and K. Deisseroth