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Funded Publications

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

  1. Recessive gene disruptions in autism spectrum disorder.

    Nat. Genet., June 30, 2019

    R. Doan, Lim E.T., De Rubeis S., Betancur C., Cutler D.J., Chiocchetti A.G., et al.

  2. Visual perception, task-induced pupil response trajectories and ASD features in children.

    J. Autism. Dev. Disord., June 30, 2019

    DiCriscio A.S., Hu Y., and V. Troiani

  3. The importance of temperament for understanding early manifestations of autism spectrum disorder in high-risk infants.

    J. Autism Dev. Disord., June 30, 2019

    Paterson S.J., Wolff J.J., J. Elison, Winder-Patel B., L. Zwaigenbaum, Estes A., et al.

  4. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.

    Genet. Med., June 30, 2019

    Guo H., Duyzend M.H., Coe B.P., Baker C., Hoekzema K., Gerdts J., et al.

  5. A machine-learning approach for accurate detection of copy-number variants from exome sequencing.

    Genome Res., June 30, 2019

    Pounraja V.K., Jayakar G., Jensen M., Kelkar N., and S. Girirajan

  6. Mitochondrial dysfunction leads to cortical under-connectivity and cognitive impairment.

    Neuron, June 18, 2019

    Fernandez A., Meechan D.W., Karpinski B.A., Paronett E.M., Bryan C.A., Rutz H.L., et al.

  7. VIP interneurons contribute to avoidance behavior by regulating information flow across hippocampal-prefrontal networks.

    Neuron, June 18, 2019

    Lee A.T., Cunnif M.M., See J.Z., Wike S.A., Luongo F.J., Ellwood I.T., et al.

  8. Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome.

    PLoS Comput. Biol., June 13, 2019

    Pagel K.A., Antaki D., Lian A., Mort M., Cooper D.N., J. Sebat, et al.

  9. Imaging striatal dopamine release using a nongenetically encoded near infrared fluorescent catecholamine nanosensor.

    Sci. Adv., June 9, 2019

    Beyene A.G., Delevich K., Del Bonis-O'Donnell J.T., Piekarski D.J., Lin W.C., Thomas A.W., et al.

  10. In the line-up: Deleted genes associated with DiGeorge/22q11.2 deletion syndrome: Are they all suspects?

    J. Neurodev. Disord., June 8, 2019

    Motahari Z., Moody S.A.,, T. Maynard, and A. LaMantia

  11. Sex differences in the epigenome: A cause or consequence of sexual differentiation of the brain?

    Genes, June 6, 2019

    Gegenhuber B. and J. Tollkuhn

  12. MeCP2: An epigenetic regulator of critical periods.

    Curr. Opin. Neurobiol., May 31, 2019

    Picard N. and M. Fagiolini

  13. Psychometric validation of the Autism Impact Measure (AIM).

    J Autism Dev. Disord., May 31, 2019

    Houghton R., Monz B., Law K., Loss G., Le Scouiller S., de Vries F., et al.

  14. Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.

    Nat. Genet., May 31, 2019

    Zhou J., Park C.Y., Theesfeld C.L., Wong A.K., Yuan Y., Scheckel C., et al.

  15. Homozygous non-canonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delays.

    Cold Spring Harb. Mol. Case Stud., May 31, 2019

    Okur V., LeDuc C.A., Guzman E., Valivullah Z.M., Anyane-Yeboa K., and W. Chung

  16. Whole blood serotonin levels and platelet 5-HT2a binding in autism spectrum disorder.

    J. Autism Dev. Disord., May 31, 2019

    Aaron E., Montgomery A., Ren X., Guter S., Anderson G., Carneiro A.M.D., et al.

  17. Mutually exclusive autism mutations point to the circadian clock and PI3K signaling pathways.

    bioRxiv, May 30, 2019

    Manning H., B. O'Roak, and Babur Ö.

  18. Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice.

    Cell, May 29, 2019

    Sharon G., Cruz N.J., Kang D.W., M. Gandal, Wang B., Kim Y.M., et al.

  19. The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice.

    Neurobiol. Dis., May 28, 2019

    Tong D.L., Chen R.G., Lu Y.L., Li W.K., Zhang Y.F., Lin J.K., et al.

  20. Sustained correction of associative learning deficits after brief, early treatment in a rat model of fragile X syndrome.

    Science Trans. Med., May 28, 2019

    Asiminas A., Jackson A.D., Louros S.R., Till S.M., Spano T., Dando O., et al.

  21. Reduced prefrontal synaptic connectivity and disturbed oscillatory population dynamics in the CNTNAP2 model of autism.

    Cell Rep., May 27, 2019

    Lazaro M.T., Taxidis J., Shuman T., Bachmutsky I., Ikrar T., Santos R., et al.

  22. Sensitivity and specificity of early screening for autism.

    BJPsych Open, May 16, 2019

    Surén P., Saasen-Havdahl A., Bresnahan M., Hirtz D., M. Hornig, C. Lord, et al.

  23. Single-cell genomics identifies cell type-specific molecular changes in autism.

    Science, May 16, 2019

    Velmeshev D., Schirmer L., Jung D., Haeussler M., Perez Y., Mayer S., et al.

  24. Optical trapping in vivo: Theory, practice, and applications.

    Nanophotonics, May 1, 2019

    Favre-Bulle I.A., Stilgoe A.B., E. Scott, and Rubinsztein-Dunlop H.

  25. Crosstalk between the microbiome and gestational immunity in autism-related disorders.

    DNA Cell Biol., April 30, 2019

    Paysour M.J., Bolte A.C., and J. Lukens

  26. Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.

    Hum. Mol. Genet., April 30, 2019

    Arbogast T., Razaz P., Ellegood J., McKinstry S.U., Erdin S., Currall B., et al.

  27. Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder.

    Autism Res., April 30, 2019

    Mire S.S., McQuillin S., Racine M., and R. Goin-Kochel

  28. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug.

    Nat. Neurosci., April 21, 2019

    Barak B., Zhang Z., Liu Y., Nir A., Trangle S.S., Ennis M., et al.

  29. Brain organoids: Advances, applications and challenges.

    Development, April 15, 2019

    Qian X., H. Song, and G. Ming

  30. Variations in genes related to sleep patterns in children with autism spectrum disorder.

    Biol. Res. Nurs., April 12, 2019

    Johansson A.E.E., Dorman J.S., Chasens E.R., Feeley C.A., and B. Devlin

  31. Preliminary evidence of increased striatal dopamine in a nonhuman primate model of maternal immune activation.

    Transl. Psychiatry, April 11, 2019

    Bauman M.D., Lesh T.A, Rowland D.J., Schumann C.M., Smucny J., Kukis D.L., et al.

  32. Neural mechanisms of sensorimotor transformation and action selection.

    Eur. J. Neurosci., March 31, 2019

    Huda R., Goard M.J., Pho G.N., and M. Sur

  33. Clinical and genetic analysis of children with a dual diagnosis of Tourette syndrome and autism spectrum disorder.

    J. Psychiatr. Res., March 31, 2019

    Carias K.V. and R. Wevrick

  34. Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

    Hum. Mol. Genet., March 31, 2019

    Wong W.R., Brugman K.I., Maher S., Oh J.Y., Howe K., Kato M., et al.

  35. SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.

    Nat. Neurosci., March 31, 2019

    Zaslavsky K., Zhang W.B., McCready F.P., Rodrigues D.C., Deneault E., Loo C., et al.

  36. How effective is LENA in detecting speech vocalizations and language produced by children and adolescents with ASD in different contexts?

    Autism Res., March 31, 2019

    R. Jones, Plesa Skwerer D., Pawar R., Hamo A., Carberry C., Ajodan E.L., et al.

  37. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

    Genet. Med., March 31, 2019

    Pizzo L., Jensen M., Polyak A., Rosenfeld J.A., Mannik K., Krishnan A., et al.

  38. Altered structural brain connectivity involving the dorsal and ventral language pathways in 16p11.2 deletion syndrome.

    Brain Imaging Behav., March 30, 2019

    Ahtam B., Link N., Hoff E., E. Grant, and Im K.

  39. Homer1a and mGluR1/5 signaling in homeostatic sleep drive and output.

    Yale J. Biol. Med., March 24, 2019

    Martin S.C., Monroe S.K., and G. Diering

  40. Brain organoids as a model system for human neurodevelopment and disease.

    Semin. Cell. Dev. Biol., March 21, 2019

    Setia H. and A. Muotri

  41. Widespread alterations in translation elongation in the brain of juvenile Fmr1 knockout mice.

    Cell Rep., March 18, 2019

    Das Sharma S., Metz J.B., Li H., Hobson B.D., Hornstein N., D. Sulzer, et al.

  42. A multifaceted approach for analyzing complex phenotypic data in rodent models of autism.

    Mol. Autism, March 11, 2019

    Das I., Estevez M.A., Sarkar A.A., and Banerjee-Basu S.

  43. Regulatory genes and pathways disrupted in autism spectrum disorders.

    Prog. Neuropsychopharmacol. Biol. Psychiatry, March 7, 2019

    Ayhan F. and G. Konopka

  44. Identification of common genetic risk variants for autism spectrum disorder.

    Nat. Genet., March 4, 2019

    Grove J., Ripke S., Als T.D., Mattheisen M., Walters R.K., Won H., et al.

  45. Histone 4 lysine 20 methylation: A case for neurodevelopmental disease.

    Biology (Basel), March 2, 2019

    Wickramasekara R.N. and H. Stessman

  46. Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion.

    Sleep, February 28, 2019

    Lu H.C., Pollack H., Lefante J.J., A. Mills, and D. Tian

  47. Treatment patterns in children with autism in the United States.

    Autism Res., February 28, 2019

    Monz B.U., Houghton R., Law K., and Loss G.

  48. A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

    Nat. Neurosci., February 28, 2019

    Schork A.J., Won H., Appadurai V., Nudel R., M. Gandal, Delaneau O., et al.