Selected Recent Publications

Stanley Center Publications

Below are selected publications related to key areas of interest to Stanley Center investigators, including: CommentaryGenetics, Neurobiology, and Clinical Research.

Click here for a special focus on schizophrenia research at the Stanley Center

Commentary

Nehme, R., Barrett, L.E. (2020) Using human pluripotent stem cell models to study autism in the era of big data Molecular Austism 11:21

Martin, A.R., Daly, M.J., Robinson, E.B., Hyman, S.E., Neale, B.M. (2019) Predicting Polygenic Risk of Psychiatric Disorders Biol Psychiatry 86:97-109

Martin, A.R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B.M., and Daly, M.J. (2019) Clinical use of current polygenic risk scores may exacerbate health disparities Nature Genetics 51, 584–591

Wilton, D.K., Dissing-Olesen, L., Stevens, B. (2019) Neuron-Glia Signaling in Synapse Elimination Annu Rev Neurosci 42:107-127

Hyman, S.E. (2018) The daunting polygenicity of mental illness: making a new map Philosophical Transactions of the Royal Society B: Biological Sciences 373, 20170031

Farahany, N.A., Greely, H.T., Hyman, S., Koch, C., Grady, C., Pașca, S.P., Sestan, N., Arlotta, P., Bernat, J.L., Ting, J., et al (2018) The ethics of experimenting with human brain tissue Nature 556, 429–432

Kaiser, T., and Feng, G. (2015) Modeling psychiatric disorders for developing effective treatments Nature Medicine 21, 979–988

Genetics

Schizophrenia and bipolar disorder:

Finucane, H., Reshef, Y., Anttila, V., Slowikowski, K., Gusev, A., Byrnes, A., Gazal, S., Loh, P., Lareau, C., Shoresh, N., Genovese, G., Saunders, A., Macosko, E., Pollack, S.; Brainstorm Consortium, Perry, J., Buenrostro, J., Bernstein, B., Raychaudhuri, S., McCarroll, S., Neale, B., Price, A. (2018) Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types. Nat Genet 50, 621-629.

Howrigan, D., Rose, S., Samocha, K., Fromer, M., Cerrato, F., Chen,W., Churchhouse, C., Chambert, K., Chandler, S., Daly, M., Dumont, A., Genovese, G., Hwu, H., Laird, N., Kosmicki, J., Moran, J., Roe, C., Singh,T., Wang, S., Faraone, S., Glatt, S., McCarroll, S. , Tsuang, M., Neale, B. (2020). Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations. Nat Neurosci [Epub ahead of print].

Lam, M., Chen, C., Li, Z., Martin, A., Bryois, J., Ma, X., Gaspar, H., Ikeda, M., Benyamin, B., Brown, B., Liu, R., Zhou, W., Guan, L., Kamatani, Y., Kim, S., Kubo, M., Kusumawardhani, A., Liu, C, Ma, H., Periyasamy, S., Takahashi, A., Xu, Z., Yu, H., Zhu, F.; Schizophrenia Working Group of the Psychiatric Genomics Consortium; et al. (2019). Comparative genetic architectures of schizophrenia in East Asian and European populations, Nat Genet 51,1670-1678.

Taylor, J., Debost, J., Morton, S., Wigdor, E., Heyne, H., Lal, D., Howrigan, D., Bloemendal, A., Larsen, J., Kosmicki, J., Weiner, D., Homsy, J., Seidman, J., Seidman, C., Agerbo, E., McGrath, J., Mortensen, P., Petersen, L., Daly, M., Robinson, E. B. (2019). Paternal-age-related de novo mutations and risk for five disorders. Nature Communications 10, 3043.

Thyme, S., Pieper, L, Li, E., Pandey, S., Wang, Y., Morris, N., Sha, C., Choi, J., Herrera, K., Soucy, E., Zimmerman, S., Randlett, O., Greenwood, J., McCarroll, S., Schier, A. (2019). Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions. Cell 177, 478-491

Stahl, E., Breen, G., Forstner, A., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., Wang, Y., Coleman, J., Gaspar, H., de Leeuw, C., Steinberg, S., Pavlides, J., Trzaskowski, M., Byrne, E., Pers, T., Holmans, P., Richards, A., et al, (2019). Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet 51, 793-803.

Stevenson, A., Akena, D., Stroud, R., Atwoli, L., Campbell, M., Chibnik, L., Kwobah, E., Kariuki, S., Martin, A., de Menil, V., Newton, C., Sibeko, G., Stein, D., Teferra, S., Zingela, Z., Koenen, K. (2019) Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis): a case-control study protocol and GWAS in Ethiopia, Kenya, South Africa and Uganda. BMJ Open 9:e025469

Other related disorders:

Demontis, D., Walters, R., Martin, J., Mattheisen, M., Als, T., Agerbo, E., Baldursson, G., Belliveau, R., Bybjerg-Grauholm, J., Bækvad-Hansen, M., Cerrato, F., Chambert, K., Churchhouse, C., Dumont, A., Eriksson, N., Gandal, M., Goldstein, J. , Grasby, K., Grove, J., Gudmundsson, O. O., Hansen, C. S., Hauberg, M. E., Hollegaard, M. V., Howrigan, D. P., Huang, H., Maller, J. B., Martin, A. R., Martin, N., Moran, J., Pallesen, J., Palmer, D., Pedersen, C., Pedersen, M., Poterba, T., Poulsen, J., Ripke, S., Robinson, E., Satterstrom, F., Stefansson, H., Stevens, C., Turley, P., Walters, G., Won, H., Wright, M.; ADHD Working Group of the Psychiatric Genomics Consortium (PGC); Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium; 23andMe Research Team, et al. (2019). Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nat Genet 51,63-75.

Feng, Y-CA, Howrigan, D., Abbott, L., Tashman, K., Cerrato, F., Singh, T., Heyne, H., Byrnes, A., Churchhouse, C., Watts, N., et al. (2019). Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. American Journal of Human Genetics 105, 267–282.

Grove, J., Ripke, S., Als, T., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O, Anney, R., Awashti, S., Belliveau, R., Bettella, F., Buxbaum, J., Bybjerg-Grauholm, J., Bækvad-Hansen, M., Cerrato, F., Chambert, K., Christensen, J., Churchhouse, C., Dellenvall, K., Demontis, D., De Rubeis, S., Devlin, B., Djurovic, S., Dumont, A. L., Goldstein, J. I., Hansen, C. S., Hauberg, M., Hollegaard, M., Hope, S., Howrigan, D., Huang, H., Hultman, C., Klei, L., Maller, J., Martin,J., Martin, A.  Moran, J., Nyegaard, M., Nærland, T., Palmer, D., Palotie, A., Pedersen, C., Pedersen, M., Poterba, T., Poulsen, J., Pourcain, B., Qvist, P., Rehnström, K., Reichenberg, A., Reichert, J., Robinson, E., Roeder, K., Roussos, P., Saemundsen, E., Sandin, S., Satterstrom, F., Davey Smith, G., Stefansson, H., Steinberg, S., Stevens, C., Sullivan, P., Turley, P., Walters, G., Xu, X.; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; et al. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nat Genet 51,431-444.

Nievergelt, C., Maihofer, A., Klengel, T., Atkinson, E., Chen, C., Choi, K., Coleman, J., Dalvie, S., Duncan, L., Gelernter, J., Levey, D., Logue, M., Polimanti, R., Provost, A., Ratanatharathorn, A., Stein, M., Torres, K., et al. (2019). International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nat Commun 10, 4558.

Peterson, R., Kuchenbaecker, K., Walters, R., Chen, C., Popejoy, A., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R., Brick, L., Carey, C.E., Martin, A.R., et al. (2019). Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. Cell 179, 589–603.

Satterstrom, F., Walters, R., Singh, T., Wigdor, E., Lescai, F., Demontis, D., Kosmicki, J., Grove, J., Stevens, C., Bybjerg-Grauholm, J., Bækvad-Hansen, M., Palmer, D., Maller, J.; iPSYCH-Broad Consortium, Nordentoft, M., Mors, O., Robinson, E. , Hougaard, D., Werge, T., Bo Mortensen, P., Neale, B., Børglum, A., Daly, M. (2019). Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat Neurosci 22,1961-1965.

Satterstrom, F., Kosmicki, J., Wang, J., Breen, M., De Rubeis, S., An, J., Peng, M., Collins, R., Grove, J., Klei, L., Stevens, C., Reichert, J., Mulhern, M., Artomov, M., Gerges, S., Sheppard, B., Xu, X., Bhaduri, A., Norman, U., Brand, H., Schwartz, G., Nguyen, R., Guerrero, E., Dias, C.; Autism Sequencing Consortium; iPSYCH-Broad Consortium, Betancur, C., Cook, E., Gallagher, L., Gill, M., Sutcliffe, J., Thurm, A., Zwick, M., Børglum, A., State, M., Cicek, A., Talkowski, M., Cutler, D., Devlin, B., Sanders, S., Roeder, K., Daly, M., Buxbaum, J. (2020). Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell Jan 23 2020 [Epub ahead of print].

Yu, D., Sul, J., Tsetsos, F., Nawaz, M., Huang, A., Zelaya, I., Illmann, C., Osiecki, L., Darrow, S., Hirschtritt, M., et al. (2019). Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. American Journal of Psychiatry 176, 217–227.

Neurobiology

Tools and technologies:

Adam, Y., Kim, J., Lou, S., Zhao, Y., Brinks, D., Wu, H., Mostajo-Radji, M., Kheifets, S.,Parot, V.,Chettih, S.,Williams, K., Farhi, S., Madisen, L.,  Harvey, C., Zeng, H., Arlotta, P., Campbell, R.,  Cohen, A. (2019). Voltage imaging and optogenetics reveal behaviour-dependent changes in hippocampal dynamics. Nature 569, 413-417.

Hammond, T., Dufort, C., Dissing-Olesen, L., Giera, S., Young, A., Wysoker, A., Walker, A., Gergits, F., Segel, M., Nemesh, J., Saunders, A., Macosko, E., Franklin, R., Piao, X., McCarroll, S., Stevens, B. (2019). Single-Cell RNA Sequencing of Microglia throughout the Mouse Lifespan and in the Injured Brain Reveals Complex Cell-State Changes. Immunity 50, 253-271.

Huang, Q., Chan, K., Tobey, I., Chan, Y., Poterba, T., Boutros, C., Balazs, A., Daneman, R., Bloom, J., Seed, C., Deverman, B. (2019). Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHPB capsids. PLOS One 101371.

Koopmans, F., van Nierop, P., Andres-Alonso, M., Byrnes, A., Cijsouw, T., Coba, M., Cornelisse, L., Farrell, R., Goldschmidt, H., Howrigan, D., et al. (2019). SynGO: An Evidence-Based, Expert-Curated Knowledge Base for the Synapse. Neuron 103, 217–234.

Rodriques, S., Stickels, R., Goeva, A., Martin, C., Murray, E., Vanderburg, C., Welch, J., Chen, L. M., Chen, F., Macosko, E. (2019). Slide-seq: A scalable technology for measuring genome-wide expression at high spatial resolution. Science 363, 1463–1467.

Velasco, S., Kedaigle, A. J., Simmons, S., Nash, A., Rocha, M., Quadrato, G., Paulsen, B., Nguyen, L., Adiconis, X., Regev, A., Levin, J.Z., Arlotta, P. (2019). Individual brain organoids reproducibly form cell diversity of the human cerebral cortex. Nature 570, 523–527.

Welch, J., Kozareva, V., Ferreira, A., Vanderburg, C., Martin, C., and Macosko, E. (2019). Single-Cell Multi-omic Integration Compares and Contrasts Features of Brain Cell Identity. Cell 177, 1873–1887.

Ximerakis, M., Lipnick, S., Innes, B. T., Simmons, S. K., Adiconis, X., Dionne, D., Mayweather, B., Nguyen, L., Niziolek, Z., Ozek, C., Butty, V., Isserlin, R., Buchanan, S., Levine, S., Regev, A., Bader, G., Levin, J., Rubin, L. (2019), Single-cell transcriptomic profiling of the aging mouse brain, Nat Neurosci 22:1696-1708

Amamoto, R., Zuccaro, E., Curry, N., Khurana, S., Chen, H-H., Cepko, C., and Arlotta, P. (2019) FIN-Seq: Transcriptional profiling of specific cell types in frozen archived tissue from the human central nervous system. bioRxiv 602847

Hazelbaker, D. Z., Beccard, A., Mazzucato, P., Angelini, G., Messana, A., Lam, D., Eggan, K., and Barrett, L. E. (2019). Multiplexed and inducible gene modulation in human pluripotent stem cells by CRISPR interference and activation. bioRxiv 603951

Jin, X., Simmons, S., Guo, A., Shetty, A., Ko, M., Nguyen, L., Robinson, E., Oyler, P., Curry, N., Deangeli, G., et al. (2019). In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with Autism risk genes. bioRxiv 791525

Vormstein-Schneider, D., Lin, J., Pelkey, K., Chittajallu, R., Guo, B., Arias Garcia, M., Sakopoulos, S., Stevenson, O., Schneider, G., Zhang, Q., et al. (2019). Viral manipulation of functionally distinct neurons from mice to humans. bioRxiv 808170

Insights into disease mechanisms:

Barak, B., Zhang, Z., Liu, Y., Nir, A., Trangle, S., Ennis, M., Levandowski, K., Wang, D., Quast, K., Boulting, G., et al. (2019). Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nature Neuroscience 22, 700–708.

Du, J., Simmons, S., Brunklaus, A., Adiconis, X., Hession, C., Fu, Z., Li, Y., Shema, R., Møller, R., Barak, B., Feng, G., Meisler, M., Sanders, S., Lerche, H., Campbell, A., McCarroll, S., Levin, J., Lal, D. (2019). Differential excitatory vs. inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. Eur J Paediatr Neurol.  Dec 28 2019 [Epub ahead of print]

Guo, B., Chen, J., Chen, Q., Ren, K., Feng, D., Mao, H., Yao, H., Yang, J., Liu, H., Liu, Y., et al. (2019). Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice. Nature Neuroscience 22, 1223–1234.

Nakajima, M., Schmitt, L., Halassa, M. (2019). Prefrontal cortex regulates sensory filtering through a basal ganglia-to-thalamus pathway. Neuron 103, 445–458.

Nakajima, M., Schmitt, L., Feng, G., Halassa, M. (2019). Combinatorial targeting of distributed forebrain networks reverses noise hypersensitivity in a model of Autism Spectrum Disorder. Neuron 104, 488–500.

Zhou, Y., Sharma, J., Ke, Q., Landman, R., Yuan, J., Chen, H., Hayden, D., Fisher, J., Jiang, M., Menegas, W., et al. (2019). Atypical behavior and connectivity in SHANK3-mutant macaques. Nature 570, 326–331.

Zonouzi, M., Berger, D., Jokhi, V., Kedaigle, A., Lichtman, J., and Arlotta, P. (2019). Individual oligodendrocytes show bias for inhibitory axons in the neocortex. Cell Reports 27, 2799–2808.

Kamitaki, N., Sekar, A., Handsaker, R., de Rivera, H., Tooley, K., Morris, D., Taylor, K., Whelan, C., Tombleson, P., Olde Loohuis, L.;Schizophrenia Working Group of the Psychiatric Genomics Consortium, Boehnke, M., Kimberly, R., Kaufman, K., Harley, J., Langefeld, C.,  Seidman, C., Pato, M., Pato, C., Ophoff, R.,  Graham, R.,  Criswell, L., Vyse, T., McCarroll, S. (2019). Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses. bioRxiv 761718

Krienen, F., Goldman, M., Zhang, Q., del Rosario, R., Florio, M., Machold, R., Saunders, A., Levandowski, K., Zaniewski, H., Schuman, B., Wu, C., Lutservitz, A., Mullally, C., Reed, N., Bien, E., Bortolin, L., Fernandez-Otero, M., Lin, J., Wysoker, A., Nemesh, J., Kulp, D., Burns, M., Tkachev, V., Smith, R., Walsh, C., Dimidschstein, J., Rudy, B., Kean, L., Berretta, S., Fishell, G., Feng, G., McCarroll, S. (2019). Innovations in primate interneuron repertoire. bioRxiv 709501

Wallace, J., Lord, J., Dissing-Olesen, L., Stevens, B., and Murthy, V. (2019). Microglia are necessary for normal functional development of adult-born neurons in the olfactory bulb. bioRxiv 714337

Clinical and Therapeutics

Ghoshal, A., Uygun, D., Yang, L., McNally, J., Lopez-Huerta, V., Arias-Garcia, M., Baez-Nieto, D., Allen, A., Fitzgerald, M., Choi, S., et al. (2020). Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits. Translational Psychiatry 10:29.

Guo, S-M., Veneziano, R., Gordonov, S., Li, L., Danielson, E., Perez de Arce, K., Park, D., Kulesa, A., Wamhoff, E-C., Blainey, P., et al. (2019). Multiplexed and high-throughput neuronal fluorescence imaging with diffusible probes. Nature Communications 10, 4337.