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

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Number of items at this level: 45.

A

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. (January 2008) Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene. Am J Hum Genet, 82 (1). pp. 150-159.

B

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

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

Bolduc, F. V., Valente, D., Nguyen, A. T., Mitra, P. P., Tully, T. (July 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. (August 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)

Buja, A., Volfovsky, N., Krieger, A. M., Lord, C., Lash, A. E., Wigler, M., Iossifov, I. (February 2018) Damaging de novo mutations diminish motor skills in children on the autism spectrum. Proc Natl Acad Sci U S A, 115 (8). E1859-E1866. ISSN 0027-8424

C

Castel, S. E., Cervera, A., Mohammadi, P., Aguet, F., Reverter, F., Wolman, A., Guigo, R., Iossifov, I., Vasileva, A., Lappalainen, T. (August 2018) Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet. ISSN 1061-4036

Cheng, H., Dharmadhikari, A. V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A. F., Yoon, M., Stray-Pedersen, A., Posey, J. E., Crews, S. R., Eldomery, M. K., Akdemir, Z. C., Lewis, A. M., Sutton, V. R., Rosenfeld, J. A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F. A., van Slegtenhorst, M. A., Mancini, G. M. S., Finnila, C. R., van Haeringen, A., den Hollander, N., Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E. E., Murray, L., Lim, D., Jayakar, P., Parker, M. J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J. S., Bernier, R. A., Kury, S., Nizon, M., Corbett, M. A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K. S., Van Dijck, A., Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M. J., de Vries, B. B. A., Pfundt, R., Kerr, B., Rojas, S. K., Boycott, K. M., Person, R., Willaert, R., Eichler, E. E., Kooy, R. F., Yang, Y., Wu, J. C., Lupski, J. R., Arnesen, T., Cooper, G. M., Chung, W. K., Gecz, J., Stessman, H. A. F., Meng, L., Lyon, G. J. (May 2018) Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet, 102 (5). pp. 985-994. ISSN 0002-9297

Cline, H. T. (March 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. (May 2016) Exploiting single-cell expression to characterize co-expression replicability. Genome Biol, 17 (1). p. 101. ISSN 1474-760X (Electronic)1474-7596 (Linking) (Public Dataset)

D

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. (July 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. (July 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

E

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 (August 2017) Structural Mechanism for Modulation of Synaptic Neuroligin-Neurexin Signaling by MDGA Proteins. Neuron, 95 (4). 896-913.e10. ISSN 0896-6273 (Public Dataset)

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. (February 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. (February 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

G

Gilman, S. R, Iossifov, I., Levy, D., Ronemus, M., Wigler, M. H., Vitkup, D. (June 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

Goes, F., Pirooznia, M., Parla, J., Melissa, K., Monson, E., Willour, V., Boenkhe, M., Scotts, L., Stahl, E., Purcell, S., Sklar, P., Zandi, P., McCombie, W., Potash, J. (October 2017) EXOME SEQUENCING OF BIPOLAR DISORDER: FAMILY AND CASE-CONTROL RESULTS SHOW OVERLAP WITH GENES IMPLICATED IN AUTISM AND SCHIZOPHRENIA. European Neuropsychopharmacology, 27 (Supple). Abstract 17; S148-S148. ISSN 0924-977X

H

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. (October 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

I

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

Iossifov, I., Levy, D., Allen, J., Ye, K., Ronemus, M., Lee, Y. H., Yamrom, B., Wigler, M. (September 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. (November 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. (April 2012) De Novo Gene Disruptions in Children on the Autistic Spectrum. Neuron, 74 (2). pp. 285-299. ISSN 0896-6273

J

Jimenez Barron, Laura, Lyon, Gholson J. (November 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)

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

K

Kim, Y., Pradhan, K., Fitzgerald, G., Umadevi Venkataraju, K, Osten, P. (November 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.

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. (December 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)

L

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. (June 2011) Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders. Neuron, 70 (5). pp. 886-897. ISSN 0896-6273

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)

M

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. (June 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. (July 2013) Co-expression Profiling of Autism Genes in the Mouse Brain. PLoS Computational Biology, 9 (7). ISSN 1553734X

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

N

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. (June 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)

R

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.

S

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

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. (April 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. (December 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)

T

Tian, D., Stoppel, L. J., Heynen, A. J., Lindemann, L., Jaeschke, G., Mills, A. A., Bear, M. F. (January 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 (January 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

W

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. (March 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)

X

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

Y

Ye, K., Iossifov, I., Levy, D., Yamrom, B., Buja, A., Krieger, A. M., Wigler, M. (July 2017) Measuring shared variants in cohorts of discordant siblings with applications to autism. Proc Natl Acad Sci U S A, 114 (27). pp. 7073-7076. ISSN 0027-8424

Z

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. (July 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)

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