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Funded Publications

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

  1. Splenium development and early spoken language in human infants.

    Dev. Sci., February 28, 2017

    Swanson M.R., Wolff J.J., J. Elison, Gu H., H. Hazlett, K. Botteron, et al.

  2. Joint attention and brain functional connectivity in infants and toddlers.

    Cereb. Cortex, February 28, 2017

    Eggebrecht A.T., J. Elison, Feczko E., Todorov A., Wolff J.J., Kandala S., et al.

  3. Increased eye contact during conversation compared to play in children with autism.

    J. Autism. Dev. Disord., February 28, 2017

    R. Jones, Southerland A., Hamo A., Carberry C., Bridges C., Nay S., et al.

  4. Language ability predicts cortical structure and covariance in boys with autism spectrum disorder.

    Cereb. Cortex, February 28, 2017

    Sharda M., Foster N.E., Tryfon A., Doyle-Thomas K.A., Ouimet T., E. Anagnostou, et al.

  5. Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.

    Autism Res., February 28, 2017

    Webb S.J., Garrison M.M., R. Bernier, McClintic A.M., B. King, and Mourad P.D.

  6. An intra-amygdala circuit specifically regulates social fear learning.

    Nat. Neurosci., February 28, 2017

    Twining R.C., Vantrease J.E., Love S., Padival M., and J. Rosenkranz

  7. Neuronal activity modifies the chromatin accessibility landscape in the adult brain.

    Nat. Neurosci., February 28, 2017

    Su Y., Shin J., Zhong C., Wang S., Roychowdhury P., Lim J., et al.

  8. SHANK proteins: Roles at the synapse and in autism spectrum disorder.

    Nat. Rev. Neurosci., February 28, 2017

    Monteiro P. and G. Feng

  9. Hormonal gain control of a medial preoptic area social reward circuit.

    Nat. Neurosci., February 28, 2017

    McHenry J.A., Otis J.M., Rossi M.A., J. Robinson, Kosyk O., Miller N.W., et al.

  10. Human astrocytes are distinct contributors to the complexity of synaptic function.

    Brain Res. Bull., February 28, 2017

    Krencik R., van Asperen J.V., and E. Ullian

  11. Conditional ablation of neuroligin-1 in CA1 pyramidal neurons blocks LTP by a cell-autonomous NMDA receptor-independent mechanism.

    Mol. Psychiatry, February 28, 2017

    Jiang M., Polepalli J., Chen L.Y., Zhang B., T. Südhof, and R. Malenka

  12. Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

    Transl. Psychiatry, February 21, 2017

    Gozes I., Van Dijck A., Hacohen-Kleiman G., Grigg I., Karmon G., Giladi E., et al.

  13. Maternal immunoreactivity to herpes simplex virus 2 and risk of autism spectrum disorder in male offspring.

    mSphere, February 21, 2017

    Mahic M., Mjaaland S., Bøvelstad H.M., Gunnes N., Susser E., Bresnahan M., et al.

  14. Exaggerated CpH methylation in the autism-affected brain.

    Mol. Autism, February 16, 2017

    Ellis S.E., Gupta S., Moes A., West A.B., and D. Arking

  15. Early brain development in infants at high risk for autism spectrum disorder.

    Nature, February 15, 2017

    H. Hazlett, Gu H., Munsell B.C., Kim S.H., Styner M., Wolff J.J., et al.

  16. Homozygous loss of autism-risk gene CNTNAP2 results in reduced local and long-range prefrontal functional connectivity.

    Cereb. Cortex, February 9, 2017

    Liska A., Bertero A., Gomolka R., Sabbioni M., Galbusera A., Barsotti N., et al.

  17. Sex-specific gene-environment interactions underlying ASD-like behaviors.

    Proc. Natl. Acad. Sci. USA, February 6, 2017

    Schaafsma S.M., Gagnidze K., Reyes A., Norstedt N., Månsson K., Francis K., et al.

  18. A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3.

    Eur. J. Hum. Genet., February 1, 2017

    Connolly S., Anney R., Gallagher L., and Heron E.A.

  19. Subcellular organization of UBE3A in neurons.

    J. Comp. Neurol., January 31, 2017

    Burette A.C., Judson M.C., Burette S., Phend K.D., B. Philpot, and Weinberg R.J.

  20. A cell type-specific expression signature predicts haploinsufficient autism-susceptibility genes.

    Hum. Mutat., January 31, 2017

    C. Zhang and Y. Shen

  21. ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties.

    Mol. Psychiatry, January 31, 2017

    B. St Pourcain, E. Robinson, Anttila V., Sullivan B.B., Maller J., Golding J., et al.

  22. Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.

    Nat. Genet., January 31, 2017

    Stanton B.Z., Hodges C., Calarco J.P., Braun S.M., Ku W.L., Kadoch C., et al.

  23. Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states.

    Nat. Genet., January 31, 2017

    Kadoch C., Williams R.T., Calarco J.P., Miller E.L., Weber C.M., Braun S.M., et al.

  24. MECP2 regulates cortical plasticity underlying a learned behavior in adult female mice.

    Nat. Commun., January 17, 2017

    Krishnan K., Lau B.Y., Ewall G., Z. Huang, and S. Shea

  25. Excessive ERK-dependent synaptic clustering with enhanced motor learning in the MeCP2 duplication syndrome mouse model of autism.

    bioRxiv, January 16, 2017

    Ash R.T., Buffington S.A., Park J., M. Costa-Mattioli, H. Zoghbi, and S. Smirnakis

  26. Reverse pathway genetic approach identifies epistasis in autism spectrum disorders.

    PLOS Genet., January 10, 2017

    Mitra I., Lavillaureix A., Yeh E., Traglia M., Tsang K., C. Bearden, et al.

  27. Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism.

    Am. J. Hum. Genet., January 4, 2017

    Harms F.L., Girisha K.M., Hardigan A.A., Kortum F., Shukla A., Alawi M., et al.

  28. Experience-dependent and differential regulation of local and long-range excitatory neocortical circuits by postsynaptic Mef2c.

    Neuron, January 3, 2017

    Rajkovich K.E., Loerwald K.W., Hale C.F., Hess C.T., J. Gibson, and K. Huber

  29. Denovo-db: A compendium of human de novo variants.

    Nucleic Acids Res., January 3, 2017

    T. Turner, Yi Q., Krumm N., Huddleston J., Hoekzema K., H. Stessman, et al.

  30. Atypical rapid audio-visual temporal recalibration in autism spectrum disorders.

    Autism Res., December 31, 2016

    Noel J.P., De Niear M.A., Stevenson R., Alais D., and M. Wallace

  31. TLR3 downregulates expression of schizophrenia gene DISC1 via MYD88 to control neuronal morphology.

    EMBO Rep., December 31, 2016

    Chen C.Y., Liu H.Y., and Y. Hsueh

  32. Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study.

    Autism Res., December 31, 2016

    T. Charman, Young G.S., Brian J., Carter A., Carver L.J., Chawarska K., et al.

  33. Increased burden of deleterious variants in essential genes in autism spectrum disorder.

    Proc. Natl. Acad. Sci. USA, December 26, 2016

    Ji X., Kember R.L., Brown C.D., and M. Bucan

  34. Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.

    Nature, December 14, 2016

    Parikshak N.N., Swarup V., Belgard T.G., Irimia M., Ramaswami G., M. Gandal, et al.

  35. Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism.

    Mol. Psychiatry, December 12, 2016

    Rubinstein M., Patowary A., Stanaway I.B., McCord E., Nesbitt R.R., Archer M., et al.

  36. CASPR2-reactive antibody cloned from a mother of an ASD child mediates an ASD-like phenotype in mice.

    Mol. Psychiatry, December 1, 2016

    Brimberg L., Mader S., Jeganathan V., Berlin R., Coleman T.R., Gregersen P.K., et al.

  37. Indel variant analysis of short-read sequencing data with Scalpel.

    Nat. Protoc., November 30, 2016

    Fang H., Bergmann E.A., Arora K., Vacic V., Zody M.C., I. Iossifov, et al.

  38. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder.

    Cell, November 30, 2016

    Tarlungeanu D.C., Deliu E., Dotter C.P., Kara M., Janiesch P.C., Scalise M., et al.

  39. A viral strategy for targeting and manipulating interneurons across vertebrate species.

    Nat. Neurosci., November 30, 2016

    J. Dimidschstein, Chen Q., Tremblay R., Rogers S.L., Saldi G.A., Guo L., et al.

  40. Negative allosteric modulation of mGluR5 partially corrects pathophysiology in a mouse model of Rett syndrome.

    J. Neurosci., November 22, 2016

    Tao J., Wu H., Coronado A.A., de Laittre E., Osterweil E.K., Zhang Y., et al.

  41. Capturing and manipulating activated neuronal ensembles with CANE delineates a hypothalamic social-fear circuit.

    Neuron, November 22, 2016

    Sakurai K., Zhao S., Takatoh J., Rodriguez E., Lu J., Leavitt A.D., et al.

  42. Efficient derivation of microglia-like cells from human pluripotent stem cells.

    Nat. Med., November 21, 2016

    Muffat J., Y. Li, Yuan B., Mitalipova M., Omer A., Corcoran S., et al.

  43. Histone acetylome-wide association study of autism spectrum disorder.

    Cell, November 16, 2016

    Sun W., Poschmann J., Cruz-Herrera Del Rosario R., Parikshak N.N., Hajan H.S., Kumar V., et al.

  44. Pleiotropic mechanisms indicated for sex differences in autism.

    PLOS Genet., November 14, 2016

    Mitra I., Tsang K., Ladd-Acosta C., L. Croen, Aldinger K.A., R. Hendren, et al.

  45. Hyperconnectivity of prefrontal cortex to amygdala projections in a mouse model of macrocephaly/autism syndrome.

    Nat. Commun., November 14, 2016

    Huang W.C., Chen Y., and D. Page

  46. Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome.

    Proc. Natl. Acad. Sci. USA., November 14, 2016

    Banerjee A., Rikhye R.V., Breton-Provencher V., X. Tang, Li C., Li K., et al.

  47. Brain responses to biological motion predict treatment outcome in young children with autism.

    Transl. Psychiatry, November 11, 2016

    Yang D., K. Pelphrey, D. Sukhodolsky, Crowley M.J., Dayan E., Dvornek N.C., et al.

  48. A basal ganglia circuit for evaluating action outcomes.

    Nature, November 9, 2016

    Stephenson-Jones M., Yu K., Ahrens S., Tucciarone J.M., van Huijstee A.N., Mejia L.A., et al.