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Publications

From ARC

  1. Rates of contributory de novo mutation in high and low-risk autism families.

    Commun. Biol., August 30, 2021

    Yoon S., Munoz A., Yamrom B., Lee Y.-h., Andrews P., Marks S., et al.

  2. Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility.

    Nat. Neurosci., August 30, 2021

    Hartl C.L., Ramaswami G., Pembroke W.G., Muller S., G. Pintacuda, Saha A., et al.

  3. Expression of genes in the 16p11.2 locus during development of the human fetal cerebral cortex.

    Cereb. Cortex, August 30, 2021

    Morson S., Yang Y., Price D.J., and Pratt T.

  4. Association of polygenic liability for autism with face-sensitive cortical responses from infancy.

    JAMA Pediatr., August 30, 2021

    Gui A., E. Meaburn, Tye C., Charman T., M. Johnson, and E. Jones

  5. Dendritic integration dysfunction in neurodevelopmental disorders.

    Dev. Neurosci., August 30, 2021

    Nelson A.D. and K. Bender

  6. Sleep problems in children with ASD and gene disrupting mutations.

    J. Genet. Psychol., August 30, 2021

    Earl R.K., Ward T., J. Gerdts, E. Eichler, R. Bernier, and Hudac C.M.

  7. Full-length isoform transcriptome of the developing human brain provides further insights into autism.

    Cell Rep., August 29, 2021

    Chau K., Zhang P., Urresti J., Amar M., Pramod A.B., Chen J., et al.

  8. A phase II randomized, double-blind, placebo-controlled study of the efficacy, safety, and tolerability of arbaclofen administered for the treatment of social function in children and adolescents with autism spectrum disorders: Study protocol for AIMS-2-TRIALS-CT1.

    Front. Psychiatry, August 22, 2021

    Parellada M., San José Cáceres A., Palmer M., Delorme R., E. Jones, Parr J.R., et al.

  9. Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse neocortex.

    Genome Med., August 22, 2021

    Liang L., Fazel Darbandi S., Pochareddy S., Gulden F.O., Gilson M.C., Sheppard B.K., et al.

  10. GABAB receptor agonist R-baclofen reverses altered auditory reactivity and filtering in the Cntnap2 knock-out rat.

    Front. Integr. Neurosci., August 18, 2021

    Möhrle D., Wang W., Whitehead S.N., and S. Schmid

  11. Preterm birth alters the development of cortical microstructure and morphology at term-equivalent age.

    Neuroimage, August 18, 2021

    Dimitrova R., Pietsch M., Ciarrusta J., Fitzgibbon S.P., Williams L.Z.J., Christiaens D., et al.

  12. Dissecting autism and schizophrenia through neuroimaging genomics.

    Brain, August 17, 2021

    Moreau C.A., Raznahan A., Bellec P., Chakravarty M., Thompson P.M., and Jacquemont S.

  13. Multivariate genome-wide covariance analyses of literacy, language and working memory skills reveal distinct etiologies.

    NPJ Sci. Learn, August 17, 2021

    Shapland C.Y., Verhoef E., Smith G.D., Fisher S.E., Verhulst B., Dale P.S., et al.

  14. Motor training improves coordination and anxiety in symptomatic MECP2-null mice despite impaired functional connectivity within the motor circuit.

    bioRxiv, August 11, 2021

    Yue Y., Xu P., Liu Z., Sun X., Su J., Du H., et al.

  15. Charging up the periphery: Glial ionic regulation in sensory perception.

    Front. Cell Dev. Biol., August 9, 2021

    Ray S. and A. Singhvi

  16. Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning.

    Cell Rep., August 8, 2021

    Benthall K.N., Cording K.R., Agopyan-Miu A.H.C.W., Wong C.D., Chen E.Y., and H. Bateup

  17. Improving the measurement of alexithymia in autistic adults: A psychometric investigation of the 20-item Toronto Alexithymia Scale and generation of a general alexithymia factor score using item response theory.

    Mol. Autism, August 8, 2021

    Williams Z.J. and Gotham K.O.

  18. Targeted long-read sequencing identifies missing disease-causing variation.

    Am. J. Hum. Genet., August 4, 2021

    Miller D.E., Sulovari A., Wang T., Loucks H., Hoekzema K., Munson K.M., et al.

  19. Autism spectrum disorder/intellectual disability-associated mutations in trio disrupt neuroligin 1-mediated synaptogenesis.

    J. Neurosci., August 3, 2021

    Tian C., Paskus J.D., Fingleton E., Roche K.W., and B. Herring

  20. "Guilt by association" is not competitive with genetic association for identifying autism risk genes.

    Sci. Rep., August 3, 2021

    Gunning M. and P. Pavlidis

  21. Paradoxical hyperexcitability from NAV1.2 sodium channel loss in neocortical pyramidal cells.

    Cell Rep., August 2, 2021

    Spratt P.W.E., Alexander R.P.D., Ben-Shalom R., Sahagun A., Kyoung H., Keeshen C.M., et al.

  22. Scn2a severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

    JCI Insight, August 1, 2021

    Wang H.-G., Bavley C.C., Li A., R. Jones, Hackett J., Bayleyen Y., et al.

  23. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.

    Cold Spring Harb. Mol. Case Stud., July 31, 2021

    Garrity M., Kavus H., Rojas-Vasquez M., Valenzuela I., Larson A., Reed S., et al.

  24. Availability of services and caregiver burden: Supporting individuals with neurogenetic conditions during the COVID-19 pandemic.

    J. Child Neurol., July 31, 2021

    Kowanda M., L. Cartner, Kentros C., Geltzeiler A.R., Singer K.E., Weaver W.C., et al.

  25. Computational methods to measure patterns of gaze in toddlers with autism spectrum disorder.

    JAMA Pediatr., July 31, 2021

    Chang Z., Di Martino J.M., Aiello R., Baker J., Carpenter K., Compton S., et al.

  26. Associations between social camouflaging and internalizing symptoms in autistic and non-autistic adolescents.

    Autism, July 31, 2021

    Bernardin C.J., Lewis T., Bell D., and S. Kanne

  27. Differential effects by sex with Kmt5b loss.

    Autism Res., July 31, 2021

    Wickramasekara R.N., Robertson B., Hulen J., Hallgren J., and H. Stessman

  28. Towards a data driven approach to screen for autism risk at 12 months of age.

    J. Am. Acad. Child Adolesc. Psychiatry, July 31, 2021

    Meera S.S., Donovan K., Wolff J.J., L. Zwaigenbaum, J. Elison, Kinh T., et al.

  29. Recent ultra-rare inherited variants implicate new autism candidate risk genes.

    Nat. Genet., July 30, 2021

    Wilfert A.B., T. Turner, Murali S.C., Hsieh P., Sulovari A., Wang T., et al.

  30. Cataloguing and characterizing interests in typically developing toddlers and toddlers who develop ASD.

    Autism Res., July 30, 2021

    Burrows C.A., Bodfish J.W., Wolff J.J., Vollman E.P., Altschuler M.R., K. Botteron, et al.

  31. Assessing general and autism‐relevant quality of life in autistic adults: A psychometric investigation using item response theory.

    Autism Res., July 30, 2021

    Williams Z.J. and Gotham K.O.

  32. A panoramic view of proteomics and multiomics in precision health.

    iScience, July 28, 2021

    Zilocchi M., Wang C., M. Babu, and J. Li

  33. T1-weighted/T2-weighted ratio mapping at 5 months captures individual differences in behavioral development and differentiates infants at familial risk for autism from controls.

    Cereb. Cortex, July 27, 2021

    Darki F., Nyström P., G. McAlonan, Bölte S., and Falck-Ytter T.

  34. A neurogenetic analysis of female autism.

    Brain, July 26, 2021

    Jack A., Sullivan C.A.W., E. Aylward, S. Bookheimer, Dapretto M., Gaab N., et al.

  35. Transcriptomics-informed large-scale cortical model captures topography of pharmacological neuroimaging effects of LSD.

    Elife, July 25, 2021

    Burt J.B., Preller K.H., Demirtas M., Ji J.L., Krystal J.H., Vollenweider F.X., et al.

  36. Dopaminergic dysregulation in syndromic autism spectrum disorders: Insights from genetic mouse models.

    Front. Neural Circuits, July 21, 2021

    Kosillo P. and H. Bateup

  37. ASXL3 controls cortical neuron fate specification through extrinsic self-renewal pathways.

    bioRxiv, July 21, 2021

    McGrath B., Wu P., Salvi S., Girgla N., Chen X., Zhu J., et al.

  38. Movement kinematics and cortical activation in children with and without autism spectrum disorder during sway synchrony tasks: an fNIRS study.

    Sci. Rep., July 20, 2021

    Su W.-C., Culotta M., Tsuzuki D., and Bhat A.

  39. Probing the VIPR2 microduplication linkage to schizophrenia in animal and cellular models.

    Front. Neurosci., July 20, 2021

    Ago Y., Asano S., Hashimoto H., and J. Waschek

  40. GABA-receptive microglia selectively sculpt developing inhibitory circuits.

    Cell, July 20, 2021

    Favuzzi E., Huang S., Saldi G.A., Binan L., Ibrahim L.A., Fernández-Otero M., et al.

  41. Transcriptional-regulatory convergence across functional mdd risk variants identified by massively parallel reporter assays.

    Transl. Psychiatry, July 20, 2021

    Mulvey B. and J. Dougherty

  42. Mapping brain-behavior space relationships along the psychosis spectrum.

    Elife, July 18, 2021

    Ji J.L., Helmer M., Fonteneau C., Burt J.B., Tamayo Z., Demšar J., et al.

  43. Effects of eight neuropsychiatric copy number variants on human brain structure.

    Transl. Psychiatry, July 18, 2021

    Modenato C., Kumar K., Moreau C., Martin-Brevet S., Huguet G., Schramm C., et al.

  44. Interpreting polygenic score effects in sibling analysis.

    bioRxiv, July 17, 2021

    Fletcher J., Wu Y., Li T., and Lu Q.

  45. Polygenic profiles define aspects of clinical heterogeneity in ADHD.

    medRxiv, July 15, 2021

    LaBianca S., Brikell I., Helenius D., Loughnan R., Mefford J., Palmer C.E., et al.

  46. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

    Hum. Genomics, July 13, 2021

    Padhi E.M., Hayeck T.J., Cheng Z., Chatterjee S., Mannion B.J., Byrska-Bishop M., et al.

  47. Comprehensive assessment of visual perceptual skills in autism spectrum disorder.

    Front. Psychol., July 11, 2021

    DiCriscio A.S., Smith J., and V. Troiani

  48. Imputing the number of responders from the mean and standard deviation of CGI-Improvement in clinical trials investigating medications for autism spectrum disorder.

    Brain Sci., July 7, 2021

    Siafis S., Rodolico A., Çıray O., D. Murphy, Parellada M., Arango C., et al.