Items where Subject is "diseases & disorders > mental disorders > personality disorders > autism"

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Paper

Alarcon, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M. H., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., Geschwind, D. H. (2008) Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Am J Hum Genet, 82 (1). pp. 150-159.

Ballouz, S., Gillis, J. (2017) Strength of functional signature correlates with effect size in autism. Genome Med, 9 (1). p. 64. ISSN 1756-994x

Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., Tully, T. (2010) An assay for social interaction in Drosophila fragile X mutants. Fly (Austin), 4 (3). ISSN 1933-6942 (Electronic) 1933-6934 (Linking)

Brunner, D., Kabitzke, P., He, D., Cox, K., Thiede, L., Hanania, T., Sabath, E., Alexandrov, V., Saxe, M., Peles, E., Mills, A., Spooren, W., Ghosh, A., Feliciano, P., Benedetti, M., Luo Clayton, A., Biemans, B. (2015) Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. PLoS One, 10 (8). e0134572. ISSN 1932-6203 (Electronic)1932-6203 (Linking)

Cline, H. T. (2005) Synaptogenesis: a balancing act between excitation and inhibition. Curr Biol, 15 (6). R203-5. ISSN 0960-9822 (Print)

Crow, M., Paul, A., Ballouz, S., Huang, Z. J., Gillis, J. (2016) Exploiting single-cell expression to characterize co-expression replicability. Genome Biol, 17 (1). p. 101. ISSN 1474-760X (Electronic)1474-7596 (Linking)

Darnell, J. C., Van Driesche, S. J., Zhang, C., Hung, K. Y. S., Mele, A., Fraser, C. E., Stone, E. F., Chen, C., Fak, J. J., Chi, S. W., Licatalosi, D. D., Richter, J. D., Darnell, R. B. (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell, 146 (2). pp. 247-261. ISSN 00928674 (ISSN)

Darrow, Sabrina M., Grados, Marco, Sandor, Paul, Hirschtritt, Matthew E., Illmann, Cornelia, Osiecki, Lisa, Dion, Yves, King, Robert, Pauls, David, Budman, Cathy L., Cath, Danielle C., Greenberg, Erica, Lyon, Gholson J., McMahon, William M., Lee, Paul C., Delucchi, Kevin L., Scharf, Jeremiah M., Mathews, Carol A. (2017) Autism Spectrum Symptoms in a Tourette Syndrome Sample. Journal of the American Academy of Child & Adolescent Psychiatry, 56 (7). pp. 610-617. ISSN 0890-8567

Elegheert, Jonathan, Cvetkovska, Vedrana, Clayton, Amber J., Heroven, Christina, Vennekens, Kristel M., Smukowski, Samuel N., Regan, Michael C., Jia, Wanyi, Smith, Alexandra C., Furukawa, Hiro, Savas, Jeffrey N., de Wit, Joris, Begbie, Jo, Craig, Ann Marie, Aricescu, A. Radu (2017) Structural Mechanism for Modulation of Synaptic Neuroligin-Neurexin Signaling by MDGA Proteins. Neuron, 95 (4). 896-913.e10. ISSN 0896-6273

Ellegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K., Foster, J. A., Penagarikano, O., Geschwind, D. H., Pacey, L. K., Hampson, D. R., Laliberte, C. L., Mills, A. A., Tam, E., Osborne, L. R., Kouser, M., Espinosa-Becerra, F., Xuan, Z., Powell, C. M., Raznahan, A., Robins, D. M., Nakai, N., Nakatani, J., Takumi, T., van Eede, M. C., Kerr, T. M., Muller, C., Blakely, R. D., Veenstra-VanderWeele, J., Henkelman, R. M., Lerch, J. P. (2015) 3D visualization of the regional differences. Mol Psychiatry, 20 (1). p. 1. ISSN 1359-4184

Ellegood, J., Anagnostou, E., Babineau, B. A., Crawley, J. N., Lin, L., Genestine, M., DiCicco-Bloom, E., Lai, J. K., Foster, J. A., Penagarikano, O., Geschwind, D. H., Pacey, L. K., Hampson, D. R., Laliberte, C. L., Mills, A. A., Tam, E., Osborne, L. R., Kouser, M., Espinosa-Becerra, F., Xuan, Z., Powell, C. M., Raznahan, A., Robins, D. M., Nakai, N., Nakatani, J., Takumi, T., van Eede, M. C., Kerr, T. M., Muller, C., Blakely, R. D., Veenstra-VanderWeele, J., Henkelman, R. M., Lerch, J. P. (2015) Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Mol Psychiatry, 20 (1). pp. 118-125. ISSN 1359-4184

Gilman, S. R, Iossifov, I., Levy, D., Ronemus, M., Wigler, M. H., Vitkup, D. (2011) Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses. Neuron, 70 (5). pp. 898-907. ISSN 0896-6273

Herbert, M. R., Russo, J. P., Yang, S., Roohi, Jasmin, Blaxill, M., Kahler, S. G., Cremer, L., Hatchwell, Eli (2006) Autism and environmental genomics. NeuroToxicology, 27 (5). pp. 671-684. ISSN 0161813X

Horev, G., Ellegood, J., Lerch, J. P., Son, Y. E., Muthuswamy, L., Vogel, H., Krieger, A. M., Buja, A., Henkelman, R. M., Wigler, M. H., Mills, A. A. (2011) Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proceedings of the National Academy of Sciences of the United States of America, 108 (41). pp. 17076-81. ISSN 0027-8424

Iossifov, I., Levy, D., Allen, J., Ye, K., Ronemus, M., Lee, Y. H., Yamrom, B., Wigler, M. (2015) Low load for disruptive mutations in autism genes and their biased transmission. Proc Natl Acad Sci U S A. ISSN 1091-6490 (Electronic)0027-8424 (Linking)

Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., Smith, J. D., Paeper, B., Nickerson, D. A., Dea, J., Dong, S., Gonzalez, L. E., Mandell, J. D., Mane, S. M., Murtha, M. T., Sullivan, C. A., Walker, M. F., Waqar, Z., Wei, L., Willsey, A. J., Yamrom, B., Lee, Y. H., Grabowska, E., Dalkic, E., Wang, Z., Marks, S., Andrews, P., Leotta, A., Kendall, J., Hakker, I., Rosenbaum, J., Ma, B., Rodgers, L., Troge, J., Narzisi, G., Yoon, S., Schatz, M. C., Ye, K., McCombie, W. R., Shendure, J., Eichler, E. E., State, M. W., Wigler, M. (2014) The contribution of de novo coding mutations to autism spectrum disorder. Nature, 515 (7526). pp. 216-221. ISSN 0028-0836

Iossifov, I., Ronemus, M., Levy, D., Wang, Z. H., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y. H., Narzisi, G., Leotta, A., Kendall, J., Grabowska, E., Ma, B. C., Marks, S., Rodgers, L., Stepansky, A., Troge, J., Andrews, P., Bekritsky, M., Pradhan, K., Ghiban, E., Kramer, M., Parla, J., Demeter, R., Fulton, L. L., Fulton, R. S., Magrini, V. J., Ye, K., Darnell, J. C., Darnell, R. B., Mardis, E. R., Wilson, R. K., Schatz, M. C., McCombie, W. R., Wigler, M. (2012) De Novo Gene Disruptions in Children on the Autistic Spectrum. Neuron, 74 (2). pp. 285-299. ISSN 0896-6273

Jiménez-Barrón, Laura T., O'Rawe, Jason A., Wu, Yiyang, Yoon, Margaret, Fang, Han, Iossifov, Ivan, Lyon, Gholson J. (2015) Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Molecular Case Studies, 1 (1).

Kusenda, M., Sebat, J. (2008) The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res, 123 (1--4). pp. 36-43. ISSN 1424-8581 (Print)1424-859X (Electronic)

Kusenda, M., Vacic, V., Malhotra, D., Rodgers, L., Pavon, K., Meth, J., Kumar, R. A., Christian, S. L., Peeters, H., Cho, S. S., Addington, A., Rapoport, J. L., Sebat, J. (2015) The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. J Child Neurol, 30 (14). pp. 1947-1953. ISSN 1708-8283 (Electronic)0883-0738 (Linking)

Levy, D., Ronemus, M., Yamrom, B., Lee, Y. H., Leotta, A., Kendall, J. T., Marks, S., Lakshmi, B., Pai, D., Ye, Kenny, Buja, Andreas, Krieger, Abba, Yoon, S., Troge, J. E., Rodgers,  L., Iossifov, I., Wigler, M. H. (2011) Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders. Neuron, 70 (5). pp. 886-897. ISSN 0896-6273

McCarthy, S. E., Gillis, J., Kramer, M., Lihm, J., Yoon, S., Berstein, Y., Mistry, M., Pavlidis, P., Solomon, R., Ghiban, E., Antoniou, E., Kelleher, E., O'Brien, C., Donohoe, G., Gill, M., Morris, D. W., McCombie, W. R., Corvin, A. (2014) De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Molecular Psychiatry, 19 (6). pp. 652-658. ISSN 14765578

Menashe, I., Grange, P., Larsen, E. C., Banerjee-Basu, S., Mitra, P. P. (2013) Co-expression Profiling of Autism Genes in the Mouse Brain. PLoS Computational Biology, 9 (7). ISSN 1553734X

Nord, A. S., Roeb, W., Dickel, D. E., Walsh, T., Kusenda, M., O'Connor, K. L., Malhotra, D., McCarthy, S. E., Stray, S. M., Taylor, S. M., Sebat, J., King, B., King, M. C., McClellan, J. M. (2011) Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. European Journal of Human Genetics, 19 (6). pp. 727-731. ISSN 10184813 (ISSN)

Ronemus, M., Iossifov, I., Levy, D., Wigler, M. (2014) The role of de novo mutations in the genetics of autism spectrum disorders. Nature Reviews Genetics, 15 (2). pp. 133-141.

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J. E., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J. T., Leotta, A., Pai, D., Zhang, R., Lee, Y. H., Hicks, J. B., Spence, S. J., Lee, A. T., Puura, K., Lehtimaki, T., Ledbetter, D., Gregersen, P. K., Bregman, J., Sutcliffe, J. S., Jobanputra, V., Chung, W., Warburton, D., King, M. C., Skuse, D., Geschwind, D. H., Gilliam, T. C., Ye, K., Wigler, M. H. (2007) Strong Association of De Novo Copy Number Mutations with Autism. Science, 316 (5823). pp. 445-449.

Sebat, J., Lakshmi, B., Troge, J., Martin, C., Spence, S., Ledbetter, D., Gilliam, T. C., Ye, K., Geschwind, D., Sutcliffe, J., Wigler, M. H. (2006) High-resolution analysis of genome copy number variation in autism. International Journal of Developmental Neuroscience, 24 (8). p. 474. ISSN 0736-5748

Shi, L., Zhang, X., Golhar, R., Otieno, F. G., He, M., Hou, C., Kim, C., Keating, B., Lyon, G. J., Wang, K., Hakonarson, H. (2013) Whole-genome sequencing in an autism multiplex family. Molecular Autism, 4 (1). p. 8. ISSN 2040-2392 (Electronic)

Tian, D., Stoppel, L. J., Heynen, A. J., Lindemann, L., Jaeschke, G., Mills, A. A., Bear, M. F. (2015) Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion. Nature Neuroscience, 18. pp. 182-184. ISSN 1097-6256

Turner, Tychele N, Hormozdiari, Fereydoun, Duyzend, Michael H, McClymont, Sarah A, Hook, Paul W, Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A, Zody, Michael C, Nelson, Bradley J, Huddleston, John, Sandstrom, Richard, Smith, Joshua D, Hanna, David, Swanson, James M, Faustman, Elaine M, Bamshad, Michael J, Stamatoyannopoulos, John, Nickerson, Deborah A, McCallion, Andrew S, Darnell, Robert, Eichler, Evan E (2016) Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. The American Journal of Human Genetics, 98 (1). pp. 58-74. ISSN 0002-9297

Weyn-Vanhentenryck, Sebastien M., Mele, A., Yan, Q., Sun, S., Farny, N., Zhang, Z., Xue, C., Herre, M., Silver, Pamela A., Zhang, Michael Q., Krainer, Adrian R., Darnell, Robert B., Zhang, C. (2014) HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism. Cell Reports, 6 (6). pp. 1139-1152. ISSN 22111247 (ISSN)

Xiong, Q., Oviedo, H. V., Trotman, L. C., Zador, A. M. (2012) PTEN Regulation of Local and Long-Range Connections in Mouse Auditory Cortex. Journal of Neuroscience, 32 (5). pp. 1643-52. ISSN 0270-6474

Ye, K., Iossifov, I., Levy, D., Yamrom, B., Buja, A., Krieger, A. M., Wigler, M. (2017) Measuring shared variants in cohorts of discordant siblings with applications to autism. Proc Natl Acad Sci U S A. ISSN 0027-8424

Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., Ye, K., Wigler, M. H. (2007) A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A, 104 (31). pp. 12831-12836. ISSN 0027-8424 (Print)

Conference or Workshop Item

Jimenez Barron, Laura, Lyon, Gholson J. (2014) Genome Wide Variant Analysis of families with Autism Spectrum Disorder (ASD) using an Integrative Bioinformatics Pipeline. In: Cold Spring Harbor Laboratory Personal Genomes Meeting , November 2014, Cold Spring Harbor, NY . (Unpublished)

Kim, Y., Pradhan, K., Fitzgerald, G., Umadevi Venkataraju, K, Osten, P. (2013) Serial two-photon tomography-based whole-brain activity mapping in cntnap2 ko mouse model of autism. In: Neuroscience 2013, Nov 9th-13th 2013, San Diego, CA.

Lyon, Gholson J. (2012) Clinical progress in autism genetics and treatment. In: Systems biology of autism: from basic science to therapeutic strategies , Sept 9-­12, 2012. (Unpublished)

Thesis

Bekritsky, M. (2014) Detecting de novo microsatellite mutations in a population of families with sporadic autism. PhD thesis, Cold Spring Harbor Laboratory.

Video

Iossifov, I. (2011) Talk from Ivan Iossifov at the Cold Spring Harbor Laboratory In-House Symposium (2011). [Video] (Unpublished)

Mills, A. A. (2011) Talk from Alea Mills at the Cold Spring Harbor Laboratory In-House Symposium (2011). [Video] (Unpublished)

Schatz, M. C. (2012) Talk from Mike Schatz at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)

This list was generated on Wed Nov 22 21:01:55 2017 EST.
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