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Funded Publications

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

  1. Development of the emotion dysregulation inventory: A PROMIS®ing method for creating sensitive and unbiased questionnaires for autism spectrum disorder.

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

    Mazefsky C.A., Day T.N., M. Siegel, White S.W., Yu L., Pilkonis P.A., et al.

  2. Behavioral symptoms of reported abuse in children and adolescents with autism spectrum disorder in inpatient settings.

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

    Brenner J., Pan Z., Mazefsky C., Smith K.A., Gabriels R., and Autism and Developmental Disabilities Inpatient Research Collaborative (ADDIRC).

  3. Characterization of medication use in a multicenter sample of pediatric inpatients with autism spectrum disorder.

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

    Wink L.K., Pedapati E.V., Adams R., C. Erickson, Pedersen K.A., E. Morrow, et al.

  4. Predictors of inpatient psychiatric hospitalization for children and adolescents with autism spectrum disorder.

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

    Righi G., Benevides J., Mazefsky C., M. Siegel, S. Sheinkopf, E. Morrow, et al.

  5. The severe end of the spectrum: Insights and opportunities from the Autism Inpatient Collection (AIC).

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

    M. Siegel

  6. Verbal ability and psychiatric symptoms in clinically referred inpatient and outpatient youth with ASD.

    Autism Dev. Disord., October 31, 2018

    M. Lerner, Mazefsky C.A., Weber R.J., Transue E., M. Siegel, and Gadow K.D.

  7. Sleep problems and their relationship to maladaptive behavior severity in psychiatrically hospitalized children with autism spectrum disorder (ASD).

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

    Sannar E.M., Palka T., Beresford C., Peura C., Kaplan D., Verdi M., et al.

  8. Risk factors for self-injurious behavior in an inpatient psychiatric sample of children with autism spectrum disorder: A naturalistic observation study.

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

    Handen B.L., Mazefsky C.A., Gabriels R.L., Pedersen K.A., Wallace M., and M. Siegel

  9. Behavioral outcomes of specialized psychiatric hospitalization in the autism inpatient collection (AIC): A multisite comparison.

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

    Pedersen K.A., Santangelo S.L., Gabriels R.L., Righi G., Erard M., and M. Siegel

  10. Mouse Cntnap2 and human CNTNAP2 ASD alleles cell autonomously regulate PV+ cortical interneurons.

    Cereb. Cortex, October 31, 2018

    Vogt D., Cho K.K.A., Shelton S.M., Paul A., Z. Huang, V. Sohal, et al.

  11. Talking about death or suicide: Prevalence and clinical correlates in youth with autism spectrum disorder in the psychiatric inpatient setting.

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

    Horowitz L.M., Thurm A., Farmer C., Mazefsky C., Lanzillo E., Bridge J.A., et al.

  12. Lost in translation: Traversing the complex path from genomics to therapeutics in autism spectrum disorder.

    Neuron, October 23, 2018

    N. Sestan

  13. A reference haplotype panel for genome-wide imputation of short tandem repeats.

    Nat. Commun., October 22, 2018

    Saini S., Mitra I., Mousavi N., Fotsing S.F., and M. Gymrek

  14. p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse.

    Proc. Natl. Acad. Sci. USA, October 22, 2018

    Robson M.J., Quinlan M.A., Margolis K.G., Gajewski-Kurdziel P.A., J. Veenstra-VanderWeele, Gershon M.D., et al.

  15. Calculating the effects of autism risk gene variants on dysfunction of biological processes identifies clinically-useful information.

    bioRxiv, October 22, 2018

    Veatch O.J., Mazzotti D.R., J. Sutcliffe, R. Schultz, T. Abel, Tunc B., et al.

  16. Language delay aggregates in toddler siblings of children with autism spectrum disorder.

    J. Neurodev. Disord., October 21, 2018

    Marrus N., Hall L.P., Paterson S.J., J. Elison, Wolff J.J., Swanson M.R., et al.

  17. Gastrointestinal and psychiatric symptoms among children and adolescents with autism spectrum disorder.

    Front. Psychiatry, October 21, 2018

    Neuhaus E., R. Bernier, Tham S.W., and S. Webb

  18. Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.

    Proc. Natl. Acad. Sci. USA., October 15, 2018

    W. Huang, Wang D.C., Allen W.E., Klope M., Hu H., Shamloo M., et al.

  19. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

    Nat. Commun., October 1, 2018

    Regier A.A., Farjoun Y., Larson D., Krasheninina O., Kang H.M., Howrigan D.P., et al.

  20. Impaired perceptual learning in a mouse model of fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible.

    Nat. Neurosci., September 30, 2018

    Goel A., Cantu D.A., Guilfoyle J., Chaudhari G.R., Newadkar A., Todisco B., et al.

  21. Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: Case report and review of the literature.

    Cold Spring Harb. Mol. Case Stud., September 30, 2018

    Okur V., Ganapathi M., Wilson A., and W. Chung

  22. Maturational trajectories of local and long-range functional connectivity in autism during face processing.

    Hum. Brain Mapp., September 30, 2018

    Mamashli F., Khan S., Bharadwaj H., Losh A., Pawlyszyn S.M., Hämäläinen M.S., et al.

  23. Identifying specific prefrontal neurons that contribute to autism-associated abnormalities in physiology and social behavior.

    Mol. Psychiatry, September 30, 2018

    Brumback A.C., Ellwood I.T., Kjaerby C., Iafrati J., Robinson S., Lee A.T., et al.

  24. TiSAn: Estimating tissue specific effects of coding and non-coding variants.

    Bioinformatics, September 14, 2018

    Vervier K. and J. Michaelson

  25. Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of Angelman syndrome.

    J. Neurosci., September 11, 2018

    Rotaru D.C., van Woerden G.M., Wallaard I., and Y. Elgersma

  26. Characteristics of sleep in children with autism spectrum disorders from the Simons Simplex Collection.

    Res. in Autism Spectr. Disord., 2018

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

  27. Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder.

    Autism Res., August 31, 2018

    Esler A.N., Stronach S.T., and S. Jacob

  28. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

    Nat. Genet., August 31, 2018

    Castel S.E., Cervera A., Mohammadi P., Aguet F., Reverter F., Wolman A., et al.

  29. 5-hydroxymethylcytosine alterations in the human postmortem brains of autism spectrum disorder.

    Hum. Mol. Genet., August 31, 2018

    Cheng Y., Li Z., Manupipatpong S., Lin L., Li X., Xu T., et al.

  30. Deficits in mesolimbic reward pathway underlie social interaction impairments in children with autism.

    Brain, August 31, 2018

    Supekar K., Kochalka J., Schaer M., Wakeman H., Qin S., Padmanabhan A., et al.

  31. Zebrafish models of neurodevelopmental disorders: Past, present, and future.

    Front. Mol. Neurosci., August 28, 2018

    Sakai C. and E. Hoffman

  32. MAP1B mutations cause intellectual disability and extensive white matter deficit.

    Nat. Commun., August 26, 2018

    Walters G.B., Gustafsson O., Sveinbjornsson G., Eiriksdottir V.K., Agustsdottir A.B., Jonsdottir G.A., et al.

  33. Smartphone measures of day-to-day behavior changes in children with autism.

    NPJ Digit. Med., August 14, 2018

    R. Jones, Tarpey T., Hamo A., Carberry C., and C. Lord

  34. Quantifying the effects of 16p11.2 copy number variants on brain structure: A multisite genetic-first study.

    Biol. Psychiatry, August 14, 2018

    Martin-Brevet S., Rodriguez-Herreros B., Nielsen J.A., Moreau C., Modenato C., Maillard A.M., et al.

  35. Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome.

    eNeuro., August 9, 2018

    Ash R.T., Fahey P.G., Park J., H. Zoghbi, and S. Smirnakis

  36. 5-HT release in nucleus accumbens rescues social deficits in mouse autism model.

    Nature, July 31, 2018

    Walsh J.J., Christoffel D.J., Heifets B.D., Ben-Dor G.A., Selimbeyoglu A., Hung L.W., et al.

  37. Autism-like phenotype and risk gene mRNA deadenylation by CPEB4 mis-splicing.

    Nature, July 31, 2018

    Parras A., Anta H., Santos-Galindo M., Swarup V., Elorza A., Nieto-González J.L., et al.

  38. Connectivity dynamics in typical development and its relationship to autistic traits and autism spectrum disorder.

    Hum. Brain Mapp., July 31, 2018

    Rashid B., Blanken L.M.E., Muetzel R.L., Miller R., Damaraju E., Arbabshirani M.R., et al.

  39. Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.

    Mol. Psychiatry, July 31, 2018

    Yeh E., Dao D.Q., Wu Z.Y., Kandalam S.M., Camacho F.M., Tom C., et al.

  40. Radial glial lineage progression and differential intermediate progenitor amplification underlie striatal compartments and circuit organization.

    Neuron, July 24, 2018

    Kelly S.M., Raudales R., He M., Lee J.H., Kim Y., Gibb L.G., et al.

  41. Luminance changes drive directional startle through a thalamic pathway.

    Neuron, July 24, 2018

    Heap L.A.L., Vanwalleghem G., Thompson A.W., Favre-Bulle I.A., and E. Scott

  42. Pharmacological inhibition of ERK signaling rescues pathophysiology and behavioral phenotype associated with 16p11.2 chromosomal deletion in mice.

    J. Neurosci., July 24, 2018

    Pucilowska J., Vithayathil J., Pagani M., Kelly C., Karlo J.C., Robol C., et al.

  43. A versatile method for viral transfection of calcium indicators in the neonatal mouse brain.

    Front. Neural Circuits, July 22, 2018

    He C.X., Arroyo E.D., Cantu D.A., Goel A., and C. Portera-Cailliau

  44. Focal cortical anomalies and language impairment in 16p11.2 deletion and duplication syndrome.

    Cereb. Cortex, June 30, 2018

    Blackmon K., Thesen T., Green S., Ben-Avi E., Wang X., Fuchs B., et al.

  45. Simple, transparent, and flexible automated quality assessment procedures for ambulatory electrodermal activity data.

    IEEE Trans. Biomed. Eng., June 30, 2018

    Kleckner I.R., R. Jones, Wilder-Smith O., Wormwood J.B., Akcakaya M., Quigley K.S., et al.

  46. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations.

    Nature, June 30, 2018

    Loh P.R., Genovese G., Handsaker R.E., Finucane H.K., Reshef Y.A., Palamara P.F., et al.

  47. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders.

    Nat. Genet., June 30, 2018

    Chen S., Fragoza R., Klei L., Liu Y., Wang J., K. Roeder, et al.

  48. Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human.

    Brain, June 30, 2018

    Bertero A., Liska A., Pagani M., Parolisi R., Masferrer M.E., Gritti M., et al.