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Funded Publications

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

  1. MTSplice predicts effects of genetic variants on tissue-specific splicing.

    Genome Biol., March 30, 2021

    Cheng J., Çelik M.H., Kundaje A., and Gagneur J.

  2. Directed information exchange between cortical layers in macaque V1 and V4 and its modulation by selective attention.

    Proc. Natl. Acad. Sci. U. S. A., March 22, 2021

    Ferro D., van Kempen J., Boyd M., S. Panzeri, and Thiele A.

  3. Exponential-family embedding with application to cell developmental trajectories for single-cell RNA-seq data.

    J. Am. Stat. Assoc., March 21, 2021

    Lin K.Z., Lei J., and K. Roeder

  4. Glia actively sculpt sensory neurons by controlled phagocytosis to tune animal behavior.

    Elife, March 20, 2021

    Raiders S., Black E.C., Bae A., MacFarlane S., Klein M., Shaham S., et al.

  5. Evaluation of UBE3A antibodies in mice and human cerebral organoids.

    Sci Rep, March 17, 2021

    Sen D., Drobna Z., and A. Keung

  6. Alternating sources of perisomatic inhibition during behavior.

    Neuron, March 16, 2021

    Dudok B., Klein P.M., Hwaun E., Lee B.R., Yao Z., Fong O., et al.

  7. Sex differences in brain development in fetuses and infants who are at low or high likelihood for autism.

    medRxiv, March 11, 2021

    Villa L.M., Hampton S., Aydin E., Tait R., Leming M.J., Tsompanidis A., et al.

  8. Children with autism spectrum disorder show altered functional connectivity and abnormal maturation trajectories in response to inverted faces.

    Autism Res., March 9, 2021

    Mamashli F., Kozhemiako N., Khan S., Nunes A.S., McGuiggan N.M., Losh A., et al.

  9. Improving the measurement of alexithymia in autistic adults: A psychometric investigation and refinement of the twenty-item Toronto Alexithymia Scale.

    Mol. Autism, March 1, 2021

    Williams Z.J. and Gotham K.O.

  10. Activation of the medial preoptic area (MPOA) ameliorates loss of maternal behavior in a Shank2 mouse model for autism.

    EMBO J., February 28, 2021

    Grabrucker S., Pagano J., Schweizer J., Urrutia-Ruiz C., Schön M., Thome K., et al.

  11. BAF subunit switching regulates chromatin accessibility to control cell cycle exit in the developing mammalian cortex.

    Genes Dev., February 28, 2021

    Braun S.M.G., Petrova R., Tang J., Krokhotin A., Miller E.L., Tang Y., et al.

  12. Towards robust and replicable sex differences in the intrinsic brain function of autism.

    Mol. Autism, February 28, 2021

    Floris D.L., Filho J.O.A., Lai M.-C., Giavasis S., Oldehinkel M., Mennes M., et al.

  13. The emerging role of chromatin remodelers in neurodevelopmental disorders: A developmental perspective.

    Cell Mol. Life Sci., February 28, 2021

    Mossink B., Negwer M., Schubert D., and N. Kasri

  14. Elevated polygenic burden for autism spectrum disorder is associated with the broad autism phenotype in mothers of individuals with autism spectrum disorder.

    Biol. Psychiatry, February 28, 2021

    Nayar K., Sealock J.M., Maltman N., Bush L., E. Cook, Davis L.K., et al.

  15. Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development.

    Mol. Autism, February 23, 2021

    Hurley S., Mohan C., Suetterlin P., Ellingford R., Riegman K.L.H., Ellegood J., et al.

  16. Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids.

    bioRxiv, February 19, 2021

    Sen D., Voulgaropoulos A., and A. Keung

  17. MIPP-Seq: Ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.

    BMC Med. Genomics, February 11, 2021

    R. Doan, Miller M.B., Kim S.N., Rodin R.E., Ganz J., Bizzotto S., et al.

  18. Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.

    Mol. Autism, February 10, 2021

    Yap C.X., Alvares G.A., Henders A.K., Lin T., Wallace L., Farrelly A., McLaren T., Berry J., Vinkhuyzen A.A.E., Trzaskowski M., Zeng J., Yang Y., Cleary D., Grove R., Hafekost C., Harun A., Holdsworth H., Jellett R., Khan F., Lawson L., Leslie J., Levis Frenk M., Masi A., Mathew N.E., Muniandy M., Nothard M., Visscher P.M., Dawson P.A., Dissanayake C., Eapen V., Heussler H.S., Whitehouse A.J.O., Wray N.R., Gratten J.

  19. Early pandemic experiences of autistic adults: Predictors of psychological distress.

    Autism Res., February 7, 2021

    Bal V.H., Wilkinson E., C. White-Lehman, K. Law, SPARK Consortium, P. Feliciano, et al.

  20. NeuroSCORE: A genome-wide omics-based model to identify candidate disease genes of the central nervous system.

    bioRxiv, February 6, 2021

    Davis K.W., Bilancia C.G., Martin M., Vanzo R., Rimmasch M., Hom Y., et al.

  21. The psychiatric phenotypes of 1q21 distal deletion and duplication.

    Transl. Psychiatry, February 3, 2021

    Linden S.C., Watson C.J., Smith J., Chawner S., Lancaster T.M., Evans F., et al.

  22. Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.

    PLoS Genet., February 3, 2021

    Huang K., Wu Y., Shin J., Zheng Y., Siahpirani A.F., Lin Y., et al.

  23. Continuous whole-body 3D kinematic recordings across the rodent behavioral repertoire.

    Neuron, February 2, 2021

    Marshall J.D., Aldarondo D.E., Dunn T.W., Wang W.L., G. Berman, and B. Ölveczky

  24. Regional, layer, and cell-type-specific connectivity of the mouse default mode network.

    Neuron, February 2, 2021

    Whitesell J.D., Liska A., Coletta L., Hirokawa K.E., Bohn P., Williford A., et al.

  25. SFARI genes and where to find them; classification modelling to identify genes associated with autism spectrum disorder from RNA-seq data.

    bioRxiv, February 1, 2021

    Navarro M. and Simpson T.I.

  26. Detailed clinical and psychological phenotype of the X-linked HNRNPH2-related neurodevelopmental disorder.

    Neurol. Genet., January 31, 2021

    Bain J.M., Thornburg O., Pan C., Rome-Martin D., Boyle L., Fan X., et al.

  27. Whole-genome analysis of de novo and polymorphic retrotransposon insertions in autism spectrum disorder.

    bioRxiv, January 31, 2021

    Borges-Monroy R., Chu C., Dias C., Choi J., Lee S., Gao Y., et al.

  28. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

    Clin. Genet., January 31, 2021

    Tremblay-Laganière C., Kaiyrzhanov R., Maroofian R., Nguyen T.T.M., Salayev K., Chilton I.T., et al.

  29. Maternal immune activation in mice disrupts proteostasis in the fetal brain.

    Nat. Neurosci., January 31, 2021

    B. Kalish, Kim E., Finander B., Duffy E.E., Kim H., Gilman C.K., et al.

  30. The logic of developing neocortical circuits in health and disease.

    J. Neurosci., January 31, 2021

    Hanganu-Opatz I.L., Butt S.J.B., Hippenmeyer S., De Marco García N.V., J. Cardin, Voytek B., et al.

  31. Large mosaic copy number variations confer autism risk.

    Nat. Neurosci., January 31, 2021

    Sherman M.A., Rodin R.E., Genovese G., Dias C., Barton A.R., Mukamel R.E., et al.

  32. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

    Nat. Neurosci., January 31, 2021

    Rodin R.E., Dou Y., Kwon M., Sherman M.A., D'Gama A.M., R. Doan, et al.

  33. Excessive formation and stabilization of dendritic spine clusters in the MECP2 duplication syndrome mouse model of autism.

    eNeuro, January 28, 2021

    Ash R.T., Park J., Suter B., H. Zoghbi, and S. Smirnakis

  34. MVP predicts the pathogenicity of missense variants by deep learning.

    Nat. Commun., January 21, 2021

    Qi H., Zhang H., Zhao Y., Chen C., Long J.J., Chung W.K., et al.

  35. Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly.

    Neuron, January 19, 2021

    Chai G., Webb A., Li C., Antaki D., Lee S., Breuss M.W., et al.

  36. Patterns of de novo tandem repeat mutations and their role in autism.

    Nature, January 12, 2021

    Mitra I., Huang B., Mousavi N., Ma N., Lamkin M., Yanicky R., et al.

  37. Sensory over-responsivity is related to GABAergic inhibition in thalamocortical circuits.

    Transl. Psychiatry, January 11, 2021

    Wood E.T., Cummings K.K., Jung J., Patterson G., Okada N., Guo J., et al.

  38. JOINT for large-scale single-cell RNA-sequencing analysis via soft-clustering and parallel computing.

    BMC Genomics, January 10, 2021

    Cui T. and T. Wang

  39. Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans.

    Sci. Rep., January 10, 2021

    Hall A.N., T. Turner, and Queitsch C.

  40. Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability.

    Am. J. Hum. Genet., January 6, 2021

    Meili F., Wei W.J., Sin W.-C., Meyers W.M., Dascalu I., Callaghan D.B., et al.

  41. Calcium imaging and the curse of negativity.

    Front. Neural. Circuits, January 5, 2021

    Vanwalleghem G., Constantin L., and E. Scott

  42. Sex differences in scores on standardized measures of autism symptoms: A multisite integrative data analysis.

    J. Child Psychol. Psychiatry, January 4, 2021

    Kaat A.J., Shui A.M., Ghods S.S., Farmer C.A., Esler A.N., Thurm A., et al.

  43. Controlling litter effects to enhance rigor and reproducibility with rodent models of neurodevelopmental disorders.

    J. Neurodev. Disord., January 3, 2021

    Jiménez J.A. and M. Zylka

  44. Complex interplay between cognitive ability and social motivation in predicting social skill: A unique role for social motivation in children with autism.

    Autism Res., December 31, 2020

    Itskovich E., Zyga O., Libove R.A., Phillips J.M., Garner J.P., and K. Parker

  45. A prefrontal social circuit vulnerable to juvenile social isolation.

    Neuropsychopharmacology, December 31, 2020

    H. Morishita

  46. PsychENCODE and beyond: Transcriptomics and epigenomics of brain development and organoids.

    Neuropsychopharmacology, December 31, 2020

    Jourdon A., Scuderi S., Capauto D., A. Abyzov, and F. Vaccarino

  47. Effect sizes of deletions and duplications on autism risk across the genome.

    Am. J. Psychiatry, December 31, 2020

    Douard E., Zeribi A., Schramm C., Tamer P., Loum M.A., Nowak S., et al.

  48. Polygenicity in psychiatry-like it or not, we have to understand it.

    Biol Psychiatry, December 31, 2020

    M. Gandal and D. Geschwind