Publications

Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes

Lamonica JM, Kwon DY, Goffin D, Fenik P, Johnson BS, Cui Y, Guo H, Veasey S, Zhou Z. Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes. J Clin Invest. 2017 Apr 10. pii: 90967. doi: 10.1172/JCI90967.

Sociability deficits and altered amygdala circuits in mice lacking Pcdh10, an autism associated gene

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.

Increased burden of deleterious variants in essential genes in autism spectrum disorder

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.

Insulin signaling misregulation underlies circadian and cognitive deficits in a Drosophila fragile X model

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.

Nipped-B Mutants Model Cornelia de Lange Syndrome in Growth and Behavior

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.

Cellular origins of auditory event-related potential deficits in Rett syndrome

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.

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

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.

Prevalence and correlates of autism in a state psychiatric hospital

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.

The social motivation theory of autism

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.

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

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.

Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein

Bhogal B, Jepson JE, Savva YA, Pepper AS, Reenan RA, Jongens TA. Modulation of dADAR-dependent RNA editing by the Drosophila fragile X mental retardation protein. Nature neuroscience. 2011;14(12):1517-24. Epub 2011/11/01. doi: 10.1038/nn.2950. PubMed PMID: 22037499; PubMed Central PMCID: PMCPmc3225737.

Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment

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.

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

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