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Funded Publications

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

  1. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder.

    medRxiv, March 8, 2022

    Wong M.M., Kampen R.A., Braden R.O., Alagöz G., Hildebrand M.S., Barnett C., et al.

  2. Neuroticism drives associations between repetitive behaviors and depression in autistic adults.

    Front. Psychiatry, March 2, 2022

    Schwartzman J.M., Williams Z.J., Richards J.K., Mattheiss S.R., and Gotham K.O.

  3. Autism in gifted youth is associated with low processing speed and high verbal ability.

    medRxiv, March 2, 2022

    J. Michaelson, Doobay A., Casten L., Schabilion K., Foley-Nicpon M., Nickl-Jockschat T., et al.

  4. EphB1 controls proper long-range cortical axon guidance through a cell non-autonomous role in GABAergic cells.

    bioRxiv, March 1, 2022

    Assali A., Chenaux G., and C. Cowan

  5. Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse.

    Neuron, February 28, 2022

    Choe K.Y., Bethlehem R.A.I., Safrin M., Dong H., Salman E., Li Y., et al.

  6. Maternal mid-gestational and child cord blood immune signatures are strongly associated with offspring risk of ASD.

    Mol. Psychiatry, February 27, 2022

    Che X., M. Hornig, Bresnahan M., Stoltenberg C., Magnus P., Surén P., et al.

  7. Autism spectrum disorder and schizophrenia: An updated conceptual review.

    Autism Res., February 27, 2022

    Jutla A., Foss-Feig J., and J. Veenstra-VanderWeele

  8. Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years.

    Child Dev., February 27, 2022

    Plate S., Yankowitz L., Resorla L., Swanson M.R., Meera S.S., Estes A., et al.

  9. Big data approach to characterize restricted and repetitive behaviors in autism.

    J. Am. Acad. Child Adolesc. Psychiatry, February 27, 2022

    Uljarević M., T. Frazier, Jo B., Billingham W.D., Cooper M.N., Youngstrom E.A., et al.

  10. Polygenic risk for mental disorder reveals distinct association profiles across social behaviour in the general population.

    Mol. Psychiatry, February 27, 2022

    Schlag F., Allegrini A., Buitelaar J., Verhoef E., van Donkelaar M., Plomin R., et al.

  11. Intra-topic latency as an automated behavioral marker of treatment response in autism spectrum disorder.

    Sci. Rep., February 26, 2022

    McKernan E.P., Kumar M., A. Di Martino, L. Shulman, A. Kolevzon, C. Lord, et al.

  12. Comorbidities in autism spectrum disorder and their etiologies.

    Transl. Psychiatry, February 25, 2022

    Khachadourian V., Mahjani B., S. Sandin, A. Kolevzon, J. Buxbaum, Reichenberg A., et al.

  13. Increased fMRI connectivity upon chemogenetic inhibition of the mouse prefrontal cortex.

    Nat. Commun., February 23, 2022

    Rocchi F., Canella C., Noei S., Gutierrez-Barragan D., Coletta L., Galbusera A., et al.

  14. Characterizing emotion recognition and theory of mind performance profiles in unaffected siblings of autistic children.

    Front. Psychol., February 22, 2022

    Uljarević M., Bott N.T., Libove R.A., Phillips J.M., K. Parker, and A. Hardan

  15. FMRP sustains presynaptic function via control of activity-dependent bulk endocytosis.

    J. Neurosci., February 22, 2022

    Bonnycastle K., P. Kind, and Cousin M.A.

  16. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders.

    medRxiv, February 16, 2022

    Lowther C., Mehrjouy M.M., Collins R.L., Bak M.C., Dudchenko O., Brand H., et al.

  17. Brain-wide visual habituation networks in wild type and fmr1 zebrafish.

    Nat. Commun., February 16, 2022

    Marquez-Legorreta E., Constantin L., Piber M., Favre-Bulle I.A., Taylor M.A., Blevins A.S., et al.

  18. Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events.

    Neurobiol. Stress, February 15, 2022

    Wendt F.R., V. Warrier, Pathak G.A., Koenen K.C., Stein M.B., Krystal J.H., et al.

  19. Somatic mutations reveal hypermutable brains and are associated with neuropsychiatric disorders.

    medRxiv, February 10, 2022

    Bae T., Fasching L., Wang Y., Shin J.H., Suvakov M., Jang Y., et al.

  20. Enhancing the discriminatory power of ADHD and autism spectrum disorder polygenic scores in clinical and non-clinical samples.

    medRxiv, February 10, 2022

    Li J.J., He Q., Wang Z., and Lu Q.

  21. Optimizing intact skull intrinsic signal imaging for subsequent targeted electrophysiology across mouse visual cortex.

    Sci. Rep., February 6, 2022

    Nsiangani A., Del Rosario J., Yeh A.C., Shin D., Wells S., Lev-Ari T., et al.

  22. LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants.

    J. Neurodev. Disord., February 5, 2022

    Darbandi S.F., Nelson A.D., Pai E.L., K. Bender, and J. Rubenstein

  23. Pax6 limits the competence of developing cerebral cortical cells.

    bioRxiv, February 3, 2022

    Manuel M., Tan K.B., Kozic Z., Molinek M., Marcos T.S., Razak M.F.A., et al.

  24. Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits.

    Autism, January 30, 2022

    Arenella M., Cadby G., De Witte W., Jones R.M., Whitehouse A.J., Moses E.K., et al.

  25. Is there an association between prenatal testosterone and autistic traits in adolescents?

    Psychoneuroendocrinology, January 30, 2022

    Dooley N., Ruigrok A., Holt R., Allison C., Tsompanidis A., Waldman J., et al.

  26. Precise genome editing across kingdoms of life using retron-derived DNA.

    Nat. Chem. Biol., January 30, 2022

    Lopez S.C., Crawford K.D., Lear S.K., Bhattarai-Kline S., and S. Shipman

  27. Neurogenetic disorders across the lifespan: From aberrant development to degeneration.

    Nat. Rev. Neurol., January 30, 2022

    Hickman R.A., O’Shea S.A., Mehler M.F., and W. Chung

  28. Using the Clinical Global Impression Scale to assess social communication change in minimally verbal children with autism spectrum disorder.

    Autism Res., January 30, 2022

    Toolan C., Holbrook A., Schlink A., Shire S., Brady N., and C. Kasari

  29. Parenting stress in caregiver-mediated interventions for toddlers with autism: An application of quantile regression mixed models.

    Autism Res., January 30, 2022

    Schlink A., Williams J., Pizzano M., A. Gulsrud, and C. Kasari

  30. Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes.

    medRxiv, January 26, 2022

    Harripaul R., Rabia A., Vasli N., Mikhailov A., Rodrigues A., Pastore S.F., et al.

  31. Variability in sampling of cortex-wide neural dynamics explains individual differences in functional connectivity and behavioral phenotype.

    bioRxiv, January 25, 2022

    MacDowell C.J., Briones B.A., Lenzi M.J., Gustison M.L., and T. Buschman

  32. CHD8 regulates gut epithelial cell function and affects autism-related behaviours through the gut-brain axis.

    bioRxiv, January 25, 2022

    Chaterjee I., Getselter D., Ghaneem N., Bel S., and E. Elliott

  33. Molecular and connectomic vulnerability shape cross-disorder cortical abnormalities.

    bioRxiv, January 21, 2022

    Hansen J.Y., Shafiei G., Vogel J.W., Smart K., C. Bearden, Hoogman M., et al.

  34. Astrocyte glutamate transport is modulated by motor learning and regulates neuronal correlations and movement encoding by motor cortex neurons.

    bioRxiv, January 21, 2022

    Delepine C., Li K., Shih J., Gaudeaux P., and M. Sur

  35. Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of autism genes.

    PLoS Genet., January 20, 2022

    Rhine C.L., Neil C., Wang J., Maguire S., Buerer L., Salomon M.., et al.

  36. Lateralized decrease of parvalbumin+ cells in the somatosensory cortex of ASD models is correlated with unilateral tactile hypersensitivity.

    Cereb. Cortex, January 20, 2022

    Deemyad T., Puig S., Papale A.E., Qi H., LaRocca G.M., Aravind D., et al.

  37. Mothers adapt their voice during children’s adolescent development.

    Sci. Rep., January 17, 2022

    Leipold S., Abrams D.A., and V. Menon

  38. Connectome-wide mega-analysis reveals robust patterns of atypical functional connectivity in autism.

    medRxiv, January 12, 2022

    Ilioska I., Oldehinkel M., Llera A., Chopra S., Looden T., Chauvin R., et al.

  39. Proximity labeling identifies a repertoire of site-specific R-loop modulators.

    Nat. Commun., January 10, 2022

    Yan Q., Wulfridge P., Doherty J., Fernandez-Luna J.L., Real P.J., Tang H.-Y., et al.

  40. GABAB receptor modulation of visual sensory processing in adults with and without autism spectrum disorder.

    Sci. Transl. Med., January 5, 2022

    Huang Q., Pereira A.C., Velthuis H., Wong N.M.L., Ellis C.L., Ponteduro F.M., et al.

  41. Self-reported parkinsonism features in older autistic adults: A descriptive study.

    Autism, January 3, 2022

    Geurts H.M., McQuaid G.A., Begeer S., and Wallace G.L.

  42. A cortico-cortical pathway targets inhibitory interneurons and modulates paw movement during locomotion in mice.

    J. Neurosci., January 3, 2022

    Chang C.-W., Zhao M., Grudzien S., Oginsky M., Yang Y., and S. Kwon

  43. Autism screening at 18 months of age: A comparison of the Q-CHAT-10 and M-CHAT screeners.

    Mol. Autism, January 1, 2022

    Sturner R., Howard B., Bergmann P., Attar S., Stewart-Artz L., Bet K., et al.

  44. Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks.

    Mol. Psychiatry, December 31, 2021

    Mossink B., van Rhijn J.-R., Wang S., Linda K., Vitale M.R., Zöller J.E.M., et al.

  45. ENIGMA-DTI: Translating reproducible white matter deficits into personalized vulnerability metrics in cross-diagnostic psychiatric research.

    Hum. Brain. Mapp., December 30, 2021

    Kochunov P., Hong L.E., Dennis E.L., Morey R.A., Tate D.F., Wilde E.A., et al.

  46. Parental age and autism severity in the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study.

    Autism Res., December 30, 2021

    Kavanaugh B.C., Gabert T., Rhode Island Consortium for Autism Research and Treatment (RI-CART), Jones R.N., S. Sheinkopf, and E. Morrow

  47. MYT1L-associated neurodevelopmental disorder: Description of 40 new cases and literature review of clinical and molecular aspects.

    Hum. Genet., December 30, 2021

    Coursimault J., Guerrot A.-M., Morrow M.M., Schramm C., Zamora F.M., Shanmugham A., et al.

  48. Imputing cognitive impairment in SPARK, a large autism cohort.

    Autism Res., December 30, 2021

    Shu C., L. Green Snyder, Y. Shen, and W. Chung