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Funded Publications

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

  1. Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.

    Mol. Autism, October 5, 2020

    Wang L., Zhang Y., Li K., Wang Z., Wang X., Li B., et al.

  2. Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.

    Mol. Autism, October 4, 2020

    Jiménez J.A., Ptacek T.S., Tuttle A.H., Schmid R.S., Moy S.S., Simon J.M., et al.

  3. Psychiatric and medical profiles of autistic adults in the SPARK cohort.

    J. Autism Dev. Disord., September 30, 2020

    E. Fombonne, L. Green Snyder, A. Daniels, P. Feliciano, W. Chung, and SPARK Consortium.

  4. A prefrontal-paraventricular thalamus circuit requires juvenile social experience to regulate adult sociability in mice.

    Nat. Neurosci., September 30, 2020

    Yamamuro K., Bicks L.K., Leventhal M.B., Kato D., Im S., Flanigan M.E., et al.

  5. Reflections on the past two decades of neuroscience.

    Nat. Rev. Neurosci., September 30, 2020

    Bassett D.S., Cullen K.E., Eickhoff S.B., Farah M.J., Goda Y., Haggard P., et al.

  6. A comparative study of suicidality and its association with emotion regulation impairment in large ASD and US census-matched samples.

    J. Autism. Dev. Disord., September 30, 2020

    Conner C.M., Golt J., Righi G., R. Shaffer, M. Siegel, and Mazefsky C.A.

  7. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

    Nat. Commun., September 30, 2020

    Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B.P., et al.

  8. Acute and repeated intranasal oxytocin differentially modulate brain-wide functional connectivity.

    Neuroscience, September 30, 2020

    Pagani M., De Felice A., Montani C., Galbusera A., Papaleo F., and A. Gozzi

  9. Abnormal auditory mismatch fields in children and adolescents with 16p11.2 deletion and 16p11.2 duplication.

    Biol. Psychiatry Cogn. Neurosci. Neuroimaging, September 30, 2020

    Matsuzaki J., Berman J.I., Blaskey L., Kuschner E.S., Gaetz L., P. Mukherjee, et al.

  10. Genomics at cellular resolution: Insights into cognitive disorders and their evolution.

    Hum. Mol. Genet., September 29, 2020

    Berto S., Liu Y., and G. Konopka

  11. Evaluating two common strategies for research participant recruitment into autism studies: Observational study.

    J. Med. Internet Res., September 24, 2020

    Ahmed K.L., Simon A.R., Dempsey J.R., Samaco R.C., and R. Goin-Kochel

  12. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism.

    Nat. Commun., September 24, 2020

    Ramaswami G., H. Won, M. Gandal, Haney J., Wang J.C., Wong C.C.Y., et al.

  13. A causal study of bumetanide on a marker of excitatory-inhibitory balance in the human brain.

    bioRxiv, September 23, 2020

    Botch T.L., Spiegel A., Ricciardi C., and C. Robertson

  14. Neural stem cells direct axon guidance via their radial fiber scaffold.

    Neuron, September 22, 2020

    Kaur N., Han W., Li Z., Madrigal M.P., Shim S., Pochareddy S., et al.

  15. Demyelination induces selective vulnerability of inhibitory networks in multiple sclerosis.

    bioRxiv, September 19, 2020

    Zoupi L., Booker S.A., Eigel D., Werner C., P. Kind, Spires-Jones T.L, et al.

  16. Phenotypic subtyping and re-analysis of existing methylation data from autistic probands in simplex families reveal ASD subtype-associated differentially methylated genes and biological functions.

    Int. J. Mol. Sci., September 17, 2020

    Lee E.C. and V. Hu

  17. Association between sleep deficiencies with behavioral problems in autism spectrum disorder: subtle sex differences

    Autism Res., September 15, 2020

    Saré R.M. and Smith C.B.

  18. MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice.

    Biol. Psychiatry, September 14, 2020

    Harrington A.J., Bridges C.M., Berto S., Blankenship K., Cho J.Y., Assali A., et al.

  19. Beliefs about causes of autism and vaccine hesitancy among parents of children with autism spectrum disorder.

    Vaccine, September 10, 2020

    R. Goin-Kochel, E. Fombonne, Mire S.S., Minard C.G., Sahni L.C., Cunningham R.M., et al.

  20. CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation.

    Proc. Natl. Acad. Sci. U.S.A., September 7, 2020

    Sood S., Weber C.M., Hodges H.C., Krokhotin A., Shalizi A., and G. Crabtree

  21. Family history of eating disorder and the broad autism phenotype in autism.

    Autism Res., September 4, 2020

    Barrionuevo B.A., Chowdhury A.R., Lee J.M., Dueker N.D., Martin E.R., Pericak-Vance M.A., et al.

  22. ATP synthase c-subunit leak causes aberrant cellular metabolism in fragile X syndrome.

    Cell, September 2, 2020

    Licznerski P., Park H.-A., Rolyan H., Chen R., Mnatsakanyan N., Miranda P., et al.

  23. High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation.

    Genome Res., August 31, 2020

    Lalli M.A., Avey D., J. Dougherty, Milbrandt J., and R. Mitra

  24. Language characterization in 16p11.2 deletion and duplication syndromes.

    Am. J. Med. Genet. B. Neuropsychiatr. Genet., August 31, 2020

    S. Kim, L. Green Snyder, C. Lord, S. Bishop, Steinman K.J., R. Bernier, et al.

  25. Gene discoveries in autism are biased towards comorbidity with intellectual disability.

    J. Med. Genet., August 31, 2020

    Jensen M., Smolen C., and S. Girirajan

  26. Dissecting the phenotypic heterogeneity in sensory features in autism spectrum disorder: A factor mixture modelling approach.

    Mol. Autism, August 30, 2020

    Tillmann J., Uljarevic M., Crawley D., Dumas G., E. Loth, D. Murphy, et al.

  27. Comprehensive behavioral phenotyping of a 16p11.2 del mouse model for neurodevelopmental disorders.

    Autism Res., August 27, 2020

    Lynch J.F., III, Ferri S.L., Angelakos C., Schoch H., Nickl-Jockschat T., Gonzalez A., et al.

  28. Sex differences in salience network connectivity and its relationship to sensory over-responsivity in youth with autism spectrum disorder.

    Autism Res., August 27, 2020

    Cummings K.K., Lawrence K.E., Hernandez L.M., Wood E.T., S. Bookheimer, Dapretto M., et al.

  29. New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders.

    Curr. Opin. Genet. Dev., August 22, 2020

    Moyses-Oliveira M., Yadav R., Erdin S., and M. Talkowski

  30. Environment-wide association study (E n WAS) of prenatal and perinatal factors associated with autistic traits: A population-based study.

    Autism Res., August 22, 2020

    Amiri M., Lamballais S., Geenjaar E., Blanken L.M.E., El Marroun H., Tiemeier H., et al.

  31. Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder.

    Sci. Rep., August 20, 2020

    Schmitz-Abe K., Sanchez-Schmitz G., R. Doan, Hill S.R., Chahrour M.H., Metha B.K., et al.

  32. Maternal immune activation alters visual acuity and retinogeniculate axon pruning in offspring mice.

    Brain Behav. Immun., August 18, 2020

    Ren J., Yan Y., Cheng S., Long J., Zhang H., Wang J., et al.

  33. Clustering by phenotype and genome-wide association study in autism.

    Transl. Psychiatry, August 16, 2020

    Narita A., Nagai M., Mizuno S., Ogishima S., Tamiya G., Ueki M., et al.

  34. Viral manipulation of functionally distinct interneurons in mice, non-human primates and humans.

    Nat. Neurosci., August 16, 2020

    Vormstein-Schneider D.C., Lin J.D., Pelkey K.A., Chittajallu R., Guo B., Arias-Garcia M.A., et al.

  35. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

    Nat. Commun., August 11, 2020

    Wang L., Li Z., Sievert D., Smith D.E.C., Mendes M.I., Chen D.Y., et al.

  36. Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

    Sci. Transl. Med., August 11, 2020

    Heyne H.O., Baez-Nieto D., Iqbal S., Palmer D.S., Brunklaus A., May P., et al.

  37. Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.

    bioRxiv, August 10, 2020

    Whelan C.W., Handsaker R.E., Genovese G., Kashin S., Lek M., Hughes J., et al.

  38. Input-output relationship of CA1 pyramidal neurons reveals intact homeostatic mechanisms in a mouse model of fragile X syndrome.

    Cell Rep., August 10, 2020

    Booker S.A., Simões de Oliveira L., Anstey N.J., Kozic Z., Dando O.R., Jackson A.D., et al.

  39. A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia.

    Nat. Med., August 9, 2020

    Luo Y., Eran A., Palmer N., Avillach P., Levy-Moonshine A., Szolovits P., et al.

  40. Robust Hi-C maps of enhancer-promoter interactions reveal the function of non-coding genome in neural development and diseases.

    Mol. Cell, August 5, 2020

    Lu L., Liu X., Huang W.-K., Giusti-Rodríguez P., Cui J., Zhang S., et al.

  41. Soma-targeted imaging of neural circuits by ribosome tethering.

    Neuron, August 4, 2020

    Chen Y., Jang H., Spratt P.W.E., Kosar S., Taylor D.E., Essner R.A., et al.

  42. Genomic analyses implicate noncoding de novo variants in congenital heart disease.

    Nat. Genet., August 3, 2020

    Richter F., Morton S.U., Kim S.W., Kitaygorodsky A., Wasson L.K., Chen K.M., Zhou J., Qi H., Patel N., DePalma S.R., Parfenov M., Homsy J., Gorham J.M., Manheimer K.B., Velinder M., Farrell A., Marth G., Schadt E.E., Kaltman J.R., Newburger J.W., Giardini A., Goldmuntz E., Brueckner M., Kim R., Porter G.A. Jr, Bernstein D., Chung W.K., D. Srivastava, Y. Shen, and Seidman J.G., Seidman C.E., Gelb B.D.

  43. Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women.

    Elife, August 3, 2020

    Trakoshis S., Martínez-Cañada P., Rocchi F., Canella C., You W., Chakrabarti B., et al.

  44. Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.

    Transl. Psychiatry, August 2, 2020

    Matoba N., Liang D., Sun H., Aygün N., McAfee J.C., Davis J.E., et al.

  45. Gender differences in emotion dysregulation in an autism inpatient psychiatric sample.

    Autism Res., August 1, 2020

    Wieckowski A.T., Luallin S., Pan Z., Righi G., Gabriels R.L., and Mazefsky C.

  46. Rescue of oxytocin response and social behaviour in a mouse model of autism.

    Nature, July 31, 2020

    Hörnberg H., Pérez-Garci E., Schreiner D., Hatstatt-Burklé L., Magara F., Baudouin S., et al.

  47. tRNA-derived fragments and microRNAs in the maternal-fetal interface of a mouse maternal-immune-activation autism model.

    RNA Biol., July 31, 2020

    Su Z., Frost E.L., Lammert C.R., Przanowska R.K., J. Lukens, and Dutta A.

  48. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.

    Autism Res., July 31, 2020

    Hudac C.M., Bove J., Barber S., Duyzend M., Wallace A., C. Martin, et al.