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Funded Publications

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

  1. Narrowband gamma oscillations propagate and synchronize throughout the mouse thalamocortical visual system.

    Neuron, April 5, 2023

    Shin D., Peelman K., Lien A.D., Del Rosario J., and B. Haider

  2. Visual processing in genetic conditions linked to autism: A behavioral study of binocular rivalry in individuals with 16p11.2 deletions and age-matched controls.

    Autism Res., April 1, 2023

    Choi Y.B., Mentch J., Haskins A.J., Van Wicklin C., and C. Robertson

  3. Consistency and reliability of automated language measures across expressive language samples in autism.

    Autism Res., April 1, 2023

    MacFarlane H., Salem A.C., Bedrick S., Dolata J.K., Wiedrick J., Lawley G.O., et al.

  4. Rhythmic and interval-based temporal orienting in autism.

    Autism Res., April 1, 2023

    Cannon J., Eldracher E., Cardinaux A., Irfan F., Bungert L., Li C., et al.

  5. Sex differences in autism: Examining intrinsic and extrinsic factors in children and adolescents enrolled in a national ASD cohort.

    J. Autism Dev. Disord., April 1, 2023

    Dillon E.F., S. Kanne, R. Landa, R. Annett, R. Bernier, Bradley C., et al.

  6. Characterizing sleep problems in 16p11.2 deletion and duplication.

    J. Autism Dev. Disord., April 1, 2023

    Kamara D., De Boeck P., Lecavalier L., Neuhaus E., and Beauchaine T.P.

  7. Electrophysiological indices of hierarchical speech processing differentially reflect the comprehension of speech in noise.

    bioRxiv, March 31, 2023

    Synigal S.R., Anderson A.J., and E. Lalor

  8. High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways.

    Cell Rep., March 28, 2023

    Weinschutz Mendes H., Neelakantan U., Liu Y., Fitzpatrick S.E., Chen T., Wu W., et al.

  9. Interactions of genetic risks for autism and the broad autism phenotypes.

    Front. Psychiatry, March 21, 2023

    Dong L., Wang Y., Wang X., Luo T., Zhou Q., Zhao G., et al.

  10. Cell type-specific interpretation of noncoding variants using deep learning-based methods.

    Gigascience, March 20, 2023

    Sindeeva M., Chekanov N., Avetisian M., Shashkova T.I., Baranov N., Malkin E., et al.

  11. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.

    medRxiv, March 20, 2023

    Singh A.K., Viviano S., Allington G., McGee S., Kiziltug E., Mekbib K.Y., et al.

  12. Neuron cilia constrain glial regulators to microdomains around distal neurons.

    bioRxiv, March 19, 2023

    Ray S., Gurung P., Manning R.S., Kravchuk A., and A. Singhvi

  13. Cnih3 deletion dysregulates dorsal hippocampal transcription across the estrous cycle.

    eNeuro, March 17, 2023

    Mulvey B., Frye H.E., Lintz T., Fass S., Tycksen E., Nelson E.C., et al.

  14. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

    Sci. Adv., March 10, 2023

    Sheppard S.E., Bryant L., Wickramasekara R.N., Vaccaro C., Robertson B., Hallgren J., et al.

  15. A screen for MeCP2-TBL1 interaction inhibitors using a luminescence-based assay.

    Sci. Rep., March 8, 2023

    Alexander-Howden B., Zhang L., van der Sloot A.M., Tollis S., St-Cyr D.J., Sicheri F., et al.

  16. Multi-ancestry phenome-wide association of complement component 4 variation with psychiatric and brain phenotypes in youth.

    Genome Biol., March 7, 2023

    L. Hernandez, Kim M., Zhang P., Bethlehem R.A.I., Hoftman G., Loughnan R., et al.

  17. Neuron-specific transcriptomic signatures indicate neuroinflammation and altered neuronal activity in ASD temporal cortex.

    Proc. Natl. Acad. Sci. U. S. A., March 7, 2023

    Zhang P., Omanska A., Ander B.P., M. Gandal, Stamova B., and Schumann C.M.

  18. Fine motor skill and expressive language in minimally verbal and verbal school-aged autistic children.

    Autism Res., March 1, 2023

    Butler L.K. and H. Tager-Flusberg

  19. Altered dendritic morphology in dorsolateral prefrontal cortex of nonhuman primates prenatally exposed to maternal immune activation.

    Brain Behav. Immun., March 1, 2023

    Hanson K.L., Weir R.K., Iosif A.M., Van de Water J., Carter S.C., K. McAllister, et al.

  20. Identifying phenotypic and physiological subgroups of preschoolers with autism spectrum disorder.

    Psychol. Med., March 1, 2023

    Bazelmans T., E. Jones, Ghods S., Corrigan S., Toth K., T. Charman, et al.

  21. Comparing autism phenotypes in children born extremely preterm and born at term.

    Autism Res., March 1, 2023

    Joseph R.M., Lai E.R., Bishop S., Yi J., Bauman M.L., Frazier J.A., et al.

  22. Processing of social and monetary rewards in autism spectrum disorders.

    Br. J. Psychiatry, March 1, 2023

    Baumeister S., Moessnang C., Bast N., Hohmann S., Aggensteiner P., Kaiser A., et al.

  23. Cardiovascular disease risk factors in autistic adults: The impact of sleep quality and antipsychotic medication use.

    Autism Res., March 1, 2023

    Bishop L., Charlton R.A., McLean K.J., McQuaid G.A., Lee N.R., and Wallace G.L.

  24. Evaluating causal psychological models: A study of language theories of autism using a large sample.

    Front. Psychol., February 24, 2023

    Tang B., Levine M., Adamek J.H., E. Wodka, Caffo B.S., and Ewen J.B.

  25. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

    bioRxiv, February 23, 2023

    Thompson C.H., Potet F., Abramova T.V., DeKeyser J.-M., Ghabra N.F., Vanoye C.G., et al.

  26. Subcortical brain alterations in carriers of genomic copy number variants.

    medRxiv, February 22, 2023

    Kumar K., Modenato C., Moreau C., Ching C.R.K., Harvey A., Martin-Brevet S., Huguet G., Jean-Louis M., Douard E., Martin C.O., Younis N., Tamer P., Maillard A.M., Rodriguez-Herreros B., Pain A., Richetin S., 16p11.2 European Consortium, Simons Searchlight Consortium, Kushan L., Isaev D., Alpert K., Ragothaman A., Turner J.A., Wang L., Ho T.C., Schmaal L., Silva A.I., van den Bree M.B.M., Linden D.E.J., Owen M.J., Hall J., S. Lippé, Dumas G., Draganski B., Gutman B.A., Sønderby I.E., Andreassen O.A., Schultz L., Almasy L., Glahn D.C., C. Bearden, and Thompson P.M., Jacquemont S.

  27. Categorical versus dimensional structure of autism spectrum disorder: A multi-method investigation.

    JCPP Adv., February 21, 2023

    T. Frazier, Chetcuti L., Al-Shaban F.A., Haslam N., Ghazal I., Klingemier E.W., et al.

  28. Therapeutic strategies for autism: Targeting three levels of the central dogma of molecular biology.

    Transl. Psychiatry, February 16, 2023

    Hong D. and L. Iakoucheva

  29. Excessive proteostasis contributes to pathology in fragile X syndrome.

    Neuron, February 15, 2023

    Louros S., Seo S., Maio B., Martinez-Gonzalez C., Gonzalez-Lozano M., Muscas M., et al.

  30. Profiles of circumscribed interests in autistic youth.

    Front. Behav. Neurosci., February 9, 2023

    Spackman E., Smillie L.D., T. Frazier, A. Hardan, Alvares G.A., Whitehouse A., et al.

  31. A transcriptional constraint mechanism limits the homeostatic response to activity deprivation in mammalian neocortex.

    Elife, February 7, 2023

    Valakh V., Wise D., Zhu X.A., Sha M., Fok J., Van Hooser S.D., et al.

  32. De novo human brain enhancers created by single nucleotide mutations.

    Sci. Adv., February 5, 2023

    Li S., Hannenhalli S., and Ovcharenko I.

  33. Integration of structural MRI and epigenetic analyses hint at linked cellular defects of the subventricular zone and insular cortex in autism: Findings from a case study.

    Front. Neurosci., February 3, 2023

    Takahashi E., Allan N., Peres R., Ortug A., van der Kouwe A.J.W., Valli B., et al.

  34. Novel maternal autoantibodies in autism spectrum disorder: Implications for screening and diagnosis.

    Front. Neurosci., February 2, 2023

    Mazón-Cabrera R., Liesenborgs J., Brône B., Vandormael P., and V. Somers

  35. Social-interactive reward elicits similar neural response in autism and typical development and predicts future social experiences.

    Dev. Cogn. Neurosci., February 1, 2023

    McNaughton K.A., Kirby L.A., Warnell K.R., Alkire D., Merchant J.S., Moraczewski D., et al.

  36. Tackling hypo and hyper sensory processing heterogeneity in autism: From clinical stratification to genetic pathways.

    Autism Res., February 1, 2023

    Lefebvre A., Tillmann J., Cliquet F., Amsellem F., Maruani A., Leblond C., et al.

  37. The network structure of the special interests survey.

    Autism Res., February 1, 2023

    Brown C.E., Beauchamp M.T., K. Nowell, Bernardin C.J., and S. Kanne

  38. Failure to consolidate statistical learning in developmental dyslexia.

    Psychon. Bull. Rev., February 1, 2023

    Ballan R., Durrant S.J., D. Manoach, and Gabay Y.

  39. A predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years.

    Mol. Psychiatry, February 1, 2023

    Bao B., Zahiri J., Gazestani V.H., Lopez L., Xiao Y., Kim R., et al.

  40. Theory of mind in naturalistic conversations between autistic and typically developing children and adolescents.

    Autism, February 1, 2023

    Alkire D., McNaughton K.A., Yarger H.A., Shariq D., and Redcay E.

  41. Predictors of expert providers' familiarity with intervention practices for school- and transition-age youth with autism spectrum disorder.

    Autism, February 1, 2023

    Cooper C.M., Rosen T., Kim H., Eaton N.R., Cohn E., Drahota A., et al.

  42. Moderators of age of diagnosis in > 20,000 females with autism in two large us studies.

    J. Autism Dev. Disord., February 1, 2023

    Kavanaugh B.C., Schremp C.A., Jones R.N., Best C.R., S. Sheinkopf, and E. Morrow

  43. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

    bioRxiv, January 31, 2023

    Einson J., et al.

  44. HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.

    bioRxiv, January 28, 2023

    Ng J.K. and T. Turner

  45. Quantifying constraint in human mitochondrial DNA.

    bioRxiv, January 27, 2023

    Lake N.J., Liu W., Battle S.L., Laricchia K.M., Tiao G., Compton A.G., et al.

  46. Interaction studies of risk proteins in human induced neurons reveal convergent biology and novel mechanisms underlying autism spectrum disorders.

    Cell Genom., January 24, 2023

    G. Pintacuda, Hsu Y.-H.H., Tsafou K., Li K.W., Martín J.M., Riseman J., et al.

  47. Neuromotor repertoires in infants exposed to maternal COVID-19 during pregnancy: a cohort study.

    BMJ Open, January 23, 2023

    Fajardo Martinez V., Zhang D., Paiola S., Mok T., Cambou M.C., Kerin T., et al.

  48. Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion.

    BMC Neurosci., January 19, 2023

    Yang Y., Booker S.A., Clegg J.M., Quintana-Urzainqui I., Sumera A., Kozic Z., et al.