Publications
The ASPE team has abundantly contributed to ongoing conversations regarding the genetic and biological processes associated with autism. Check out some of our recent publications!
James A. Rankin, Grace M. DiGiovanni, Elizabeth S. McKeown, Chandni K. Shah, Edward S. Brodkin, Incorporating self-advocacy and empowerment into small group therapy for adults on the autism spectrum: A pilot study, Research in Autism Spectrum Disorders, Volume 117, 2024, 102425, ISSN 1750-9467, https://doi.org/10.1016/j.rasd.2024.102425.
Zhang, J., Weissenkampen, J.D., Kember, R.L. et al. Phenotypic and ancestry-related assortative mating in autism. Molecular Autism 15, 27 (2024). https://doi.org/10.1186/s13229-024-00605-5
Cowen, M.H., Hart, M.P., Raizen, D.M. Structural neuroplasticity after sleep loss modifies behavior and requires neurexin and neuroligin. iScience, Volume 27, Issue 4, 2024,109477, ISSN 2589-0042, https://doi.org/10.1016/j.isci.2024.109477
Taylor SC, Gehringer BN, Dow HC, Langer A, Rawot E, Smernoff Z, Steeman S, Almasy L, Rader DJ, Bućan M, Brodkin ES. Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits. J Autism Dev Disord. 2024 Mar;54(3):1088-1100. doi: 10.1007/s10803-022-05822-6. Epub 2022 Dec 9. PMID: 36484966; PMCID: PMC9734875. https://link.springer.com/article/10.1007/s10803-022-05822-6
Martinez D, Jiang E, Zhou Z. Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities. J Neurodev Disord. 2024 Feb 29;16(1):5. doi: 10.1186/s11689-024-09517-0. PMID: 38424476; PMCID: PMC10902969. https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-024-09517-0
Weisz, E.D., Fenton, A.R. & Jongens, T.A. PGC-1α integrates insulin signaling with mitochondrial physiology and behavior in a Drosophila model of Fragile X Syndrome. npj Metab Health Dis 2, 2 (2024). https://doi.org/10.1038/s44324-024-00004-7
Bastien, B.L., Cowen, M.H. & Hart, M.P. Distinct neurexin isoforms cooperate to initiate and maintain foraging activity. Transl Psychiatry 13, 367 (2023). https://doi.org/10.1038/s41398-023-02668-z
Choi K, Piasini E, Díaz-Hernández E, Cifuentes LV, Henderson NT, Holly EN, Subramaniyan M, Gerfen CR, Fuccillo MV. Distributed processing for value-based choice by prelimbic circuits targeting anterior-posterior dorsal striatal subregions in male mice. Nat Commun. 2023 Apr 6;14(1):1920. doi: 10.1038/s41467-023-36795-4. PMID: 37024449; PMCID: PMC10079960. https://pubmed.ncbi.nlm.nih.gov/37024449/
Xu B, Ho Y, Fasolino M, Medina J, O’Brien WT, Lamonica JM, Nugent E, Brodkin ES, Fuccillo MV, Bucan M, Zhou Z. Allelic contribution of Nrxn1α to autism-relevant behavioral phenotypes in mice. PLoS Genet. 2023 Feb 27;19(2):e1010659. doi: 10.1371/journal.pgen.1010659. PMID: 36848371; PMCID: PMC9997995. https://doi.org/10.1371/journal.pgen.1010659
Shoenhard H, Granato M. Multivariate analysis of variegated expression in Neurons: A strategy for unbiased localization of gene function to candidate brain regions in larval zebrafish. PLoS One. 2023 Feb 14;18(2):e0281609. doi: 10.1371/journal.pone.0281609. PMID: 36787331; PMCID: PMC9928119. https://doi.org/10.1371/journal.pone.0281609
Taylor SC, Gehringer BN, Dow HC, Langer A, Rawot E, Smernoff Z, Steeman S, Almasy L, Rader DJ, Bučan M, Brodkin ES. Contrasting Views of Autism Spectrum Traits in Adults, Especially in Self-Reports vs. Informant-Reports for Women High in Autism Spectrum Traits. J Autism Dev Disord. 2022 Dec 9:1–13. doi: 10.1007/s10803-022-05822-6. Epub ahead of print. PMID: 36484966; PMCID: PMC9734875. https://doi.org/10.1007/s10803-022-05822-6
Thudium S, Palozola K, L’Her É, Korb E. Identification of a transcriptional signature found in multiple models of ASD and related disorders. Genome Res. 2022 Sep 14;32(9):1642–54. doi: 10.1101/gr.276591.122. Epub ahead of print. PMID: 36104286; PMCID: PMC9528985. https://pubmed.ncbi.nlm.nih.gov/36104286/
Niestroj SC, Steden S, Boecker M, Brodkin ES, Konrad K. The Development and Validation of the First German Open Scale of Social Information Processing. Psychopathology. 2022 Aug 31:1-12. doi: 10.1159/000525950. Epub ahead of print. PMID: 36044830. https://pubmed.ncbi.nlm.nih.gov/36044830/
Veatch OJ, Mazzotti DR, Schultz RT, Abel T, Michaelson JJ, Brodkin ES, Tunc B, Assouline SG, Nickl-Jockschat T, Malow BA, Sutcliffe JS, Pack AI. Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data. J Neurodev Disord. 2022 Jun 24;14(1):39. doi: 10.1186/s11689-022-09448-8. PMID: 35751013. https://pubmed.ncbi.nlm.nih.gov/35751013/
Silverman JL, Thurm A, Ethridge SB, Soller MM, Petkova SP, Abel T, Bauman MD, Brodkin ES, Harony-Nicolas H, Wöhr M, Halladay A. Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future. Genes Brain Behav. 2022 Jun;21(5): e12803. doi: 10.1111/gbb.12803. Epub 2022 Mar 14. PMID: 35285132. https://pubmed.ncbi.nlm.nih.gov/35285132/
Elkhatib Smidt SD, Gooneratne N, Brodkin ES, Bucan M, Mitchell JA. Sufficient sleep duration in autistic children and the role of physical activity. Autism. 2022 May;26(4):814-826. https://pubmed.ncbi.nlm.nih.gov/34991371/
Levy KA, Weisz ED, Jongens TA. Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility. Hum Mol Genet. 2022 May 25: ddac115. doi: 10.1093/hmg/ddac115. Epub ahead of print. PMID: 35617143. https://pubmed.ncbi.nlm.nih.gov/35617143/
Taylor SC, Smernoff ZL, Rajan M, Steeman S, Gehringer BN, Dow HC, Barzilay R, Rader DJ, Bucan M, Almasy L, Brodkin ES. Investigating the relationships between resilience, autism-related quantitative traits, and mental health outcomes among adults during the COVID-19 pandemic. J Psychiatr Res. 2022; 148:250-257. https://pubmed.ncbi.nlm.nih.gov/35151216/
Doldur-Balli F, Imamura T, Veatch OJ, Gong NN, Lim DC, Hart MP, Abel T, Kayser MS, Brodkin ES, Pack AI. Synaptic dysfunction connects autism spectrum disorder and sleep disturbances: A perspective from studies in model organisms. Sleep Med Rev. 2022 Jan 25; 62:101595. https://pubmed.ncbi.nlm.nih.gov/35158305/
Elkhatib Smidt SD, Ghorai A, Taylor SC, Gehringer BN, Dow HC, Langer A, Rawot E, Zhang J, Mitchell JA, Rader DJ, Almasy L, Brodkin ES, Bućan M. The relationship between autism spectrum and sleep-wake traits. Autism Res. 2021: 1-12. https://pubmed.ncbi.nlm.nih.gov/34967137/
Sara C. Taylor, Samantha Steeman, Brielle Gehringer, Holly C. Dow, Allison Langer, Eric Rawot, Leat Perez, Matthew Goodman, Zoe Smernoff, Mahip Grewal, Oceania Eshraghi, Ashley A. Pallathra, Catherine Oksas, Melissa Mendez, Ruben C. Gur, Daniel Rader, Maja Bucan, Laura Almasy, Edward S. Brodkin. Heritability of Quantitative Autism Spectrum Traits in Adults: A Family-Based Study. Autism Research. 2021 Aug;14(8):1543-1553. https://pubmed.ncbi.nlm.nih.gov/34245229/
Taylor SC, Ferri SL, Grewal M, Smernoff Z, Bucan M, Weiner JA, Abel T, Brodkin ES (2020) The role of synaptic cell adhesion molecules and associated scaffolding proteins in social affiliative behaviors. Biological Psychiatry, 88(6):442-451. https://www.sciencedirect.com/science/article/pii/S0006322320301013?via%3Dihub
Michael P. Hart: Stress-Induced Neuron Remodeling Reveals Differential Interplay Between Neurexin and Environmental Factors in Caenorhabditis elegans. Genetics 213(4): 1415-1430, Dec 2019. https://pubmed.ncbi.nlm.nih.gov/31558583/
Moe Nakanishi, Jun Nomura, Xiao Ji, Kota Tamada, Takashi Arai, Eiki Takahashi, Maja Bućan, Toru Takumi. Functional significance of rare neuroligin 1 variants found in autism. PLOS Genetics 13(10): e1007035. https://pubmed.ncbi.nlm.nih.gov/28841651/
Zhao YT, Kwon DY, Johnson BS, Fasolino M, Lamonica JM, Kim YJ, Zhao BS, He C, Vahedi G, Kim TH and Zhou Z* (2018). Long genes linked to autism harbor broad enhancer-like chromatin domains. Genome Research, 28:933-942. PMID: 29848492. https://genome.cshlp.org/content/28/7/933
Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S and Zhou Z* (2017). Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. Journal of Clinical Investigation, 127 (5): 1889-1904. PMID28394263. https://www.ncbi.nlm.nih.gov/pubmed/28394263
Tang S, Wang I-T, Yue C, Takano H, Terzic B, Pance K, Lee JY, Cui Y, Coulter DA* and Zhou Z* (2017). Loss of CDKL5 in glutamatergic neurons disrupts hippocampal microcircuitry and leads to memory impairment in mice. Journal of Neuroscience, 37(31): 7420-7437. PMID28674172. https://www.ncbi.nlm.nih.gov/pubmed/28674172
Johnson BS, Zhao Y, Fasolino M, Lamonica JM, Kim YJ, Georgakilas G, Wood KH, Bu D, Cui Y, Goffin D, Vahedi G, Kim TH and Zhou Z* (2017). Biotin tagging of MeCP2 reveals contextual insights into the Rett syndrome transcriptome. Nature Medicine, 23(10): 1203-1214. PMID28920956. https://www.ncbi.nlm.nih.gov/pubmed/28920956
Schoch H., Kreibich A.S., Ferri S.L., White R.S., Bohorquez D., Banerjee A., Port R.G., Dow H.C., Cordero L., Pallathra A.A., Kim H., Li H., Bilker W.B., Hirano S., Schultz R.T., Borgmann-Winter K., Hahn C.-G., Feldmeyer D., Carlson G.C., Abel T., Brodkin E.S.: “Sociability deficits and altered amygdala circuits in mice lacking Pcdh10, an autism associated gene.” Biological Psychiatry, 81:193-202, 2017. https://pubmed.ncbi.nlm.nih.gov/27567313/
Ji X, Kember RL, Brown CD, Bućan M. Increased burden of deleterious variants in essential genes in autism spectrum disorder. Proc Natl Acad Sci U S A. 2016 Dec 27;113(52):15054-15059.
Monyak RE, Emerson D, Schoenfeld BP, Zheng X, Chambers DB, Rosenfelt C, Langer S, Hinchey P, Choi CH, McDonald TV, Bolduc FV, Sehgal A, McBride SM, Jongens TA. Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model. Molecular psychiatry. 2016. Epub 2016/04/20. doi: 10.1038/mp.2016.51. PubMed PMID: 27090306; PubMed Central PMCID: PMCPmc5071102. https://pubmed.ncbi.nlm.nih.gov/27090306/
Wu Y, Gause M, Xu D, Misulovin Z, Schaaf CA, Mosarla RC, Mannino E, Shannon M, Jones E, Shi M, Chen WF, Katz OL, Sehgal A, Jongens TA, Krantz ID, Dorsett D. Drosophila Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior. PLoS genetics. 2015;11(11):e1005655. Epub 2015/11/07. doi: 10.1371/journal.pgen.1005655. PubMed PMID: 26544867; PubMed Central PMCID: PMCPmc4636142. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4636142/
Goffin D., Brodkin E.S., Blendy J.A., Siegel S.J., Zhou Z.: “Cellular origins of auditory event-related potential deficits in Rett syndrome.” Nature Neuroscience, 17(6):804-806, 2014. https://pubmed.ncbi.nlm.nih.gov/24777420/
Wang IT, Allen M, Goffin D, Zhu X, Fairless AH, Brodkin ES, Siegel SJ, Marsh ED, Blendy JA, Zhou Z. Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21516-21. https://pubmed.ncbi.nlm.nih.gov/23236174/
Mandell D.S., Lawer L.J., Branch K., Brodkin E.S., Healey K., Witalec R., Johnson D.N., Gur R.E.: “Prevalence and correlates of autism in a state psychiatric hospital.” Autism, 16(6):557-567, 2012. https://pubmed.ncbi.nlm.nih.gov/21846667/
Chevallier C., Kohls G., Troiani V., Brodkin E.S., Schultz R.T.: “The social motivation theory of autism.” Trends in Cognitive Sciences, 16(4):231-239, 2012. https://doi.org/10.1016/j.tics.2012.02.007
Goffin D, Allen M, Zhang L, Amorim M, Wang IT, Reyes AR, Mercado-Berton A, Ong C, Cohen S, Hu L, Blendy JA, Carlson GC, Siegel SJ, Greenberg ME, Zhou Z. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci. 2011 Nov 27;15(2):274-83. https://pubmed.ncbi.nlm.nih.gov/22119903/
Bhogal B, Jepson JE, Savva YA, Pepper AS, Reenan RA, Jongens TA. Modulation of dADAR-dependent RNA editing by the Drosophila FMRP. Nature neuroscience. 2011;14(12):1517-24. Epub 2011/11/01. doi: 10.1038/nn.2950. PubMed PMID: 22037499; PubMed Central PMCID: PMCPmc3225737.
Choi CH, Schoenfeld BP, Bell AJ, Hinchey P, Kollaros M, Gertner MJ, Woo NH, Tranfaglia MR, Bear MF, Zukin RS, McDonald TV, Jongens TA, McBride SM. Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment. Brain research. 2011;1380:106-19. Epub 2010/11/17. doi: 10.1016/j.brainres.2010.11.032. PubMed PMID: 21078304; PubMed Central PMCID: PMCPmc3050427. https://pubmed.ncbi.nlm.nih.gov/21078304/
Bucan, M*., Abrahams*, B. S., Wang*, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., Kim, C., Gidaya, N. B., Lindquist, I., Hutman, T., Sigman, M., Kustanovich, V., Lajonchere, C. M., Singleton, A., Kim, J., Wassink, T. H., McMahon, W. M., Owley, T., Sweeney, J. A., Coon, H., Nurnberger, J. I., Li, M., Cantor, R. M., Minshew, N. J., Sutcliffe, J. S., Cook, E. H., Dawson, G., Buxbaum, J. D., Grant, S. F., Schellenberg, G. D., Geschwind, D. H. and Hakonarson, H.: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5(6): e1000536, 2009. PMCID: PMC2695001 https://pubmed.ncbi.nlm.nih.gov/19557195/