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Funded Publications

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

  1. Progress in understanding and treating SCN2A-mediated disorders.

    Trends Neurosci., June 30, 2018

    S. Sanders, Campbell A.J., Cottrell J.R., Moller R.S., Wagner F.F., Auldridge A.L., et al.

  2. Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.

    Mol Autism, June 27, 2018

    Andrews S.V., Sheppard B., Windham G.C., Schieve L.A., Schendel D.E., L. Croen, et al.

  3. Synthesis and evaluation of a new 18F-labeled radiotracer for studying the GABAB receptor in the mouse brain.

    ACS Chem. Neurosci., June 19, 2018

    Naik R., Valentine H., Dannals R.F., D. Wong, and A. Horti

  4. Diffuse light-sheet microscopy for stripe-free calcium imaging of neural populations.

    J. Biophotonics, June 18, 2018

    Taylor M.A., Vanwalleghem G.C., Favre-Bulle I.A., and E. Scott

  5. GeNets: A unified web platform for network-based genomic analyses.

    Nat. Methods, June 17, 2018

    Li T., Kim A., Rosenbluh J., Horn H., Greenfeld L., An D., et al.

  6. Corticostriatal transmission is selectively enhanced in striatonigral neurons with postnatal loss of <em<Tsc1.

    Cell Rep., June 11, 2018

    Benthall K.N., Ong S.L., and H. Bateup

  7. Altered neocortical gene expression, brain overgrowth and functional over-connectivity in Chd8 haploinsufficient mice.

    Cereb. Cortex, May 31, 2018

    Suetterlin P., Hurley S., Mohan C., Riegman K.L.H., Pagani M., Caruso A., et al.

  8. Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.

    J. Neurodev. Disord., May 31, 2018

    Schwede M., Nagpal S., M. Gandal, Parikshak N.N., Mirnics K., D. Geschwind, et al.

  9. Integrative whole-brain neuroscience in larval zebrafish.

    Curr. Opin. Neurobiol., May 31, 2018

    Vanwalleghem G.C., Ahrens M.B., and E. Scott

  10. The emotion dysregulation inventory: Psychometric properties and item response theory calibration in an autism spectrum disorder sample.

    Autism Res., May 31, 2018

    Mazefsky C.A., Yu L., White S.W., M. Siegel, and Pilkonis P.A.

  11. Genetic analysis of very obese children with autism spectrum disorder.

    Mol. Genet. Genomics, 2018

    Cortes H.D. and R. Wevrick

  12. Precise temporal regulation of alternative splicing during neural development.

    Nat. Commun., May 31, 2018

    Weyn-Vanhentenryck S.M., Feng H., Ustianenko D., Duffie R., Yan Q., Jacko M., et al.

  13. Autism spectrum symptomatology among children with duplication 7q11.23 syndrome.

    J. Autism Dev. Disord., May 31, 2018

    Klein-Tasman B.P. and C. Mervis

  14. Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

    Hum. Mutat., May 31, 2018

    Manheimer K.B., Patel N., Richter F., Gorham J., Tai A.C., Homsy J., et al.

  15. Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis.

    Cell, May 30, 2018

    Fiddes I.T., Lodewijk G.A., Mooring M., Bosworth C.M., Ewing A.D., Mantalas G.L., et al.

  16. Genomics of autism spectrum disorder: Approach to therapy.

    F1000Res, May 21, 2018

    Ayhan F. and G. Konopka

  17. The neuropeptide Tac2 controls a distributed brain state induced by chronic social isolation stress.

    Cell, May 16, 2018

    Zelikowsky M., Hui M., Karigo T., Choe A., Yang B., Blanco M.R., et al.

  18. The microglial innate immune receptor TREM2 is required for synapse elimination and normal brain connectivity.

    Immunity, May 14, 2018

    Filipello F., Morini R., Corradini I., Zerbi V., Canzi A., Michalski B., et al.

  19. SV2: Accurate structural variation genotyping and de novo mutation detection from whole genomes.

    Bioinformatics, May 14, 2018

    Antaki D., Brandler W.M., and J. Sebat

  20. A statistical framework for mapping risk genes from de novo mutations in whole-genome-sequencing studies.

    Am. J Hum. Genet., May 9, 2018

    Liu Y., Liang Y., A. E. Çiçek, Li Z., Li J., R. Muhle, et al.

  21. Rett syndrome: Insights into genetic, molecular and circuit mechanisms.

    Nat. Rev. Neurosci., May 7, 2018

    Ip J.P.K., Mellios N., and M. Sur

  22. Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.

    Sci. Transl. Med., May 1, 2018

    K. Parker, Garner J.P., Oztan O., Tarara E.R., Li J., Sclafani V., et al.

  23. Predicting imminent aggression onset in minimally-verbal youth with autism spectrum disorder using preceding physiological signals.

    Int. Conf. Pervasive Comput. Technol. Healthc., April 30, 2018

    M. Goodwin, Özdenizci O., Cumpanasoiu C., Tian P., Guo Y., Stedman A., et al.

  24. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

    Nat. Genet., April 30, 2018

    D. Werling, Brand H., An J.Y., Stone M.R., Zhu L., Glessner J.T., et al.

  25. Development of white matter circuitry in infants with fragile X syndrome.

    JAMA Psychiatry, April 30, 2018

    Swanson M.R., Wolff J.J., Shen M.D., Styner M., Estes A., Gerig G., et al.

  26. Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

    Eur. J. Hum., April 30, 2018

    Mei C., E. Fedorenko, Amor D.J., Boys A., Hoeflin C., Carew P., et al.

  27. Diminished respiratory sinus arrhythmia response in infants later diagnosed with autism spectrum disorder.

    Autism Res., April 30, 2018

    McCormick C.E.B., S. Sheinkopf, Levine T.P., LaGasse L.L., Tronick E., and Lester B.L.

  28. Paternally inherited cis-regulatory structural variants are associated with autism.

    Science, April 19, 2018

    Brandler W.M., Antaki D., Gujral M., Kleiber M.L., Whitney J., Maile M.S., et al.

  29. Thalamic reticular dysfunction as a circuit endophenotype in neurodevelopmental disorders.

    Neuron, April 17, 2018

    Krol A., Wimmer R.D., M. Halassa, and G. Feng

  30. Major vault protein, a candidate gene in 16p11.2 microdeletion syndrome, is required for the homeostatic regulation of visual cortical plasticity.

    J. Neurosci., April 17, 2018

    Ip J.P.K., Nagakura I., Petravicz J., Li K., Wiemer E.A.C., and M. Sur

  31. Neuron numbers increase in the human amygdala from birth to adulthood, but not in autism.

    Proc. Natl. Acad. Sci. USA, April 2, 2018

    Avino T.A., Barger N., Vargas M.V., Carlson E.L., D. Amaral, Bauman M.D., et al.

  32. MVP: Predicting pathogenicity of missense variants by deep neural networks.

    bioRxiv, April 2, 2018

    Qi H., Chen C., Zhang H., Long J.J., W. Chung, Guan Y., et al.

  33. A prospective study of fetal head growth, autistic traits and autism spectrum disorder.

    Autism Res., March 31, 2018

    Blanken L.M.E., Dass A., Alvares G., van der Ende J., Schoemaker N.K., El Marroun H., et al.

  34. Modeling the interplay between neurons and astrocytes in autism using human induced pluripotent stem cells.

    Biol. Psychiatry, March 31, 2018

    Russo F.B., Freitas B.C., Pignatari G.C., Fernandes I.R., J. Sebat, A. Muotri, et al.

  35. MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling.

    Mol. Psychiatry, March 31, 2018

    Mellios N., Feldman D.A., Sheridan S.D., Ip J.P.K., Kwok S., Amoah S.K., et al.

  36. Neonatal transitions in social behavior and their implications for autism.

    Trends Cogn. Sci., March 29, 2018

    S. Shultz and Jones W.

  37. Network analysis of UBE3A/E6AP-associated proteins provides connections to several distinct cellular processes.

    J. Mol. Biol., March 29, 2018

    Martinez-Noel G., Luck K., Kuhnle S., Desbuleux A., Szajner P., Galligan J.T., et al.

  38. Are the components of social reciprocity transdiagnostic across pediatric neurodevelopmental disorders? Evidence for common and disorder-specific social impairments.

    Psychiatry Res., March 28, 2018

    Sturm A., Rozenman M., Chang S., McGough J.J., McCracken J.T., and Piacentini J.C.

  39. Elevated polygenic burden for autism is associated with differential DNA methylation at birth.

    Genome Med., March 27, 2018

    Hannon E., Schendel D., Ladd-Acosta C., Grove J., iPSYCH-Broad ASD Group, Hansen C.S., et al.

  40. Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome.

    J. Neurosci., March 13, 2018

    Sidorov M.S., Judson M.C., Kim H., Rougie M., Ferrer A.I., Nikolova V.D., et al.

  41. Prediction and interpretation of deleterious coding variants in terms of protein structural stability.

    Sci. Rep., March 13, 2018

    Ancien F., Pucci F., Godfroid M., and Rooman M.

  42. Plasma anandamide concentrations are lower in children with autism spectrum disorder.

    Mol. Autism, March 11, 2018

    Karhson D.S., Krasinska K.M., Dallaire J.A., Libove R.A., Phillips J.M., Chien A.S., et al.

  43. Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes.

    Sci. Rep., March 8, 2018

    Lin C.Y., Chang K.W., Lin C.Y., Wu J.Y., H. Coon, Huang P.H., et al.

  44. Sex differences in autism spectrum disorder: A review

    Curr. Psychiatry Rep., March 4, 2018

    Ferri S.L., T. Abel, and Brodkin E.S.

  45. Developmental diversification of cortical inhibitory interneurons

    Nature, March 4, 2018

    Mayer C., Hafemeister C., Bandler R.C., Machold R., R. Batista-Brito, Jaglin X., et al.

  46. Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion.

    J. Neurophysiol., February 28, 2018

    Lu H.C., A. Mills, and D. Tian

  47. Cortical responses before 6 months of life associate with later autism.

    Eur. J. Neurosci., February 28, 2018

    Lloyd-Fox S., Blasi A., Pasco G., Gliga T., E. Jones, D. Murphy, et al.

  48. Diminished socially selective neural processing in five-month-old infants at high familial risk of autism.

    Eur. J. Neurosci., February 28, 2018

    Braukmann R., Lloyd-Fox S., Blasi A., M. Johnson, Bekkering H., Buitelaar J.K., et al.