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Funded Publications

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

  1. Distinct roles of putative excitatory and inhibitory neurons in the macaque inferior temporal cortex in core object recognition behavior.

    bioRxiv, August 3, 2023

    Sanghavi S. and K. Kar

  2. The contributions of rare inherited and polygenic risk to ASD in multiplex families.

    Proc. Natl. Sci. Acad. U. S. A., August 1, 2023

    Cirnigliaro M., Chang T.S., Arteaga A.S., Pérez-Cano L., Ruzzo E.K., Gordon A., et al.

  3. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

    Nat. Genet., August 1, 2023

    Valencia A.M., Sankar A., van der Sluijs P.J., Satterstrom F.K., Fu J., M. Talkowski, et al.

  4. The Autism Symptom Dimensions Questionnaire: Development and psychometric evaluation of a new, open-source measure of autism symptomatology.

    Dev. Med. Child Neurol., August 1, 2023

    T. Frazier, Dimitropoulos A., L. Abbeduto, Armstrong-Brine M., Kralovic S., Shih A., et al.

  5. Large-scale whole genome sequence analysis of 22,000 subjects provides no evidence of FMR1 premutation allele involvement in autism spectrum disorder.

    Genes (Basel), July 25, 2023

    Chubick A., Wang E., Au C., Grody W.W., and Ophoff R.A.

  6. VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.

    Commun. Biol., July 25, 2023

    Zhong G., Choi Y.A., and Y. Shen

  7. Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.

    Cell Rep., July 23, 2023

    Xing L., Simon J.L., Ptacek T.S., Yi J.J., Loo L., Mao H., et al.

  8. Rhesus macaque social functioning is paternally, but not maternally, inherited by sons: Potential implications for autism.

    Mol. Autism, July 21, 2023

    Garner J.P., Talbot C.F., Del Rosso L.A., McCowan B., Kanthaswamy S., Haig D., et al.

  9. Reprogramming method does not impact the neuronal differentiation potential of 16p11.2 deletion patient iPSCs.

    bioRxiv, July 8, 2023

    Wells M.F., Guss E.J., Zhou H., Sun B., Martinez H., NYSCF Global Stem Cell Array Team, et al.

  10. ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

    Hum. Mol. Genet., July 4, 2023

    Teunissen M.A., Lewerissa E., van Hugte E.J.H., Wang S., Ockeloen C.W., Koolen D.A., et al.

  11. A mixed methods study of autistic adults' mental health therapy experiences.

    Clin. Psychol. Psychother., July 3, 2023

    Mazurek M.O., Pappagianopoulos J., Brunt S., Sadikova E., Nevill R., Menezes M., et al.

  12. Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders.

    Front. Neurosci., July 3, 2023

    Lorenzo S.M., Del Mar Muñiz Moreno M., Atas H., Pellen M., Nalesso V., Raffelsberger W., et al.

  13. A qualitative exploration of autistic mothers' experiences I: Pregnancy experiences.

    Autism, July 1, 2023

    Hampton S., Man J., Allison C., Aydin E., S. Baron-Cohen, and Holt R.

  14. Are autistic people disadvantaged by the criminal justice system? A case comparison.

    Autism, July 1, 2023

    Slavny-Cross R., Allison C., Griffiths S., and S. Baron-Cohen

  15. Phenotypically driven subgroups of ASD display distinct metabolomic profiles.

    Brain Behav. Immun., July 1, 2023

    Prince N., Chu S.H., Mendez K.M., E. Hanson, L. Green Snyder, L. Brooks, et al.

  16. Relationship between childhood obesity and autism spectrum disorder varies by child's age and parents' weight status in a sample of sibling dyads.

    Child. Obes., July 1, 2023

    Must A., Eliasziw M., Bowling A., Magaña S., Stanish H., Bandini L., et al.

  17. Autistic people's perinatal experiences II: A survey of childbirth and postnatal experiences.

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

    Hampton S., Allison C., S. Baron-Cohen, and Holt R.

  18. Validity of the SNAP-IV for ADHD assessment in South African children with neurodevelopmental disorders.

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

    Zieff M.R., Hoogenhout M., Eastman E., Christ B.U., Galvin A., de Menil V., et al.

  19. Autism spectrum disorders and brain volume link through a set of mTOR-related genes.

    J. Child Psychol. Psychiatry, July 1, 2023

    Arenella M., Mota N.R., Teunissen M.W.A., Brunner H.G., and Bralten J.

  20. Multi-omic analysis along the gut-brain axis points to a functional architecture of autism.

    Nat. Neurosci., July 1, 2023

    Morton J.T., Jin D.-m., Mills R., Shao Y., Rahman G., McDonald D., et al.

  21. Phenotypic effects of genetic variants associated with autism.

    Nat. Med., July 1, 2023

    Rolland T., Cliquet F., Anney R.J.L., Moreau C., Traut N., Mathieu A., et al.

  22. Developmental molecular controls over arealization of descending cortical motor pathways.

    bioRxiv, June 30, 2023

    Abe P., Lavalley A., Morassut I., Klingler E., Santinha A.J., Platt R.J., et al.

  23. Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway.

    Nat. Commun., June 26, 2023

    Guo Y., Shen M., Dong Q., Méndez-Albelo N.M., Huang S.X., Sirois C.L., et al.

  24. Structural neuroplasticity after sleep loss modifies behavior and requires neurexin and neuroligin.

    bioRxiv, June 24, 2023

    Cowen M.H., Raizen D.M., and M. Hart

  25. Environmental adversity moderates polygenic score effects on childhood behavioral problems in the United States.

    medRxiv, June 19, 2023

    Thomas T.R., Casten L.G., and J. Michaelson

  26. Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.

    Proc. Natl. Acad. Sci. U. S. A., June 6, 2023

    Dias C.M., Isaac B., Sun L., Lukowicz A., Talukdar M., Akula S.K., et al.

  27. Immersive and maladaptive daydreaming and divergent thinking in autism spectrum disorders.

    Imagin. Cogn. Pers., June 1, 2023

    West M.J., Somer E., and Eigsti I.-M.

  28. Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder.

    Autism Res., June 1, 2023

    Lee C.M., Green Snyder L., L. Carpenter, J. Harris, S. Kanne, Taylor C.M., et al.

  29. Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder.

    Autism Res., June 1, 2023

    Lee C.M., Green Snyder L., L. Carpenter, J. Harris, S. Kanne, Taylor C.M., et al.

  30. A PROMIS®ing new measure for quantifying emotion dysregulation in toddlers and preschoolers: Development of the Emotion Dysregulation Inventory-Young Child.

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

    Day T.N., Northrup J.B., and Mazefsky C.A.

  31. Reliability of the Motor Optimality Score-Revised: A study of infants at elevated likelihood for adverse neurological outcomes.

    Acta Paediatr., June 1, 2023

    Örtqvist M., Marschik P.B., Toldo M., Zhang D., Fajardo-Martinez V., K. Nielsen, et al.

  32. Data-driven dissection of the fever effect in autism spectrum disorder.

    Autism Res., June 1, 2023

    Muller E., Shalev I., Bachmat E., and Eran A.

  33. Rubella virus tropism and single cell responses in human primary tissue and microglia-containing organoids.

    bioRxiv, May 24, 2023

    Popova G., Retallack H., Kim C.N., Shin D., Wang A., DeRisi J.J., et al.

  34. Repetitive and restricted behaviors and interests in autism spectrum disorder: relation to individual characteristics and mental health problems.

    BMC Psychiatry, May 23, 2023

    Jasim S. and Perry A.

  35. Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes.

    HGG Adv., May 20, 2023

    Castro C.P., Diehl A.G., and Boyle A.P.

  36. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

    J. Clin. Invest., May 15, 2023

    Gehin C., et al.

  37. Examining indicators of psychosocial risk and resilience in parents of autistic children.

    Front. Behav. Neurosci., May 15, 2023

    Nunnally A.D., Factor R.S., Sturm A., Soorya L.V., Wainer A., Taylor S., et al.

  38. Sharing parental genomes by siblings concordant or discordant for autism.

    Cell Genom., May 8, 2023

    Wroten M., Yoon S., Andrews P., Yamrom B., Ronemus A., Buja A., et al.

  39. Cross-replicating findings on unique motor impairments of children with ASD using confirmatory factor analysis and a novel SPARK study sample.

    Autism Res., 2023

    Bhat A., Tulsky D.S., and Boulton A.J.

  40. Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: An expanded series with functional characterisation and genotype-phenotype analysis.

    J. Med. Genet., May 1, 2023

    Oyama N., Vaneynde P., Reynhout S., Pao E.M., Timms A., Fan X., et al.

  41. Identifying rare genetic variants in 21 highly multiplex autism families: The role of diagnosis and autistic traits.

    Mol. Psychiatry, May 1, 2023

    More R.P., V. Warrier, Brunel H., Buckingham C., Smith P., Allison C., et al.

  42. Dimensional assessment of restricted and repetitive behaviors: Development and preliminary validation of a new measure.

    J. Am. Acad. Child Adolesc. Psychiatry, May 1, 2023

    Uljarević M., T. Frazier, Jo B., Scahill L., Youngstrom E.A., Spackman E., et al.

  43. Effect of children’s autism spectrum disorder severity on family strain and sleep quality: A cross-sectional online survey in the U.S.

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

    Durán-Pacheco G., Silkey M., Johnson M., Liu C., Clinch S., Law K., et al.

  44. Synaptic boutons are smaller in chandelier cell cartridges in autism.

    PLoS One, April 25, 2023

    Hong T., McBride E., Dufour B.D., Falcone C., Doan M., Noctor S.G., et al.

  45. Functional brain networks reflect spatial and temporal autocorrelation.

    Nat. Neurosci., April 24, 2023

    Shinn M., Hu A., Turner L., Noble S., Preller K.H., Li J.L., et al.

  46. Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex.

    Cell, April 18, 2023

    M. Munz, Bharioke A., Kosche G., Moreno-Juan V., Brignall A., Rodrigues T.M., et al.

  47. Using brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia.

    iScience, April 18, 2023

    Hsu Y.-H.H., Nacu E., Liu R., Kim A., Tsafou K., Petrossian N., et al.

  48. Ventral striatal dopamine encodes unique properties of visual stimuli in mice.

    Elife, April 17, 2023

    Gonzalez L.S., Fisher A.A., D’Souza S.P., Cotella E.M., Lang R.A., and J. Robinson