Browse by CSHL Author

Maihofer, Adam X, Engchuan, Worrawat, Huguet, Guillaume, Klein, Marieke, MacDonald, Jeffrey R, Shanta, Omar, Thiruvahindrapuram, Bhooma, Jean-Louis, Martineau, Saci, Zohra, Jacquemont, Sebastien, Scherer, Stephen W, Ketema, Elizabeth, Aiello, Allison E, Amstadter, Ananda B, Avdibegović, Esmina, Babic, Dragan, Baker, Dewleen G, Bisson, Jonathan I, Boks, Marco P, Bolger, Elizabeth A, Bryant, Richard A, Bustamante, Angela C, Caldas-de-Almeida, Jose Miguel, Cardoso, Graça, Deckert, Jurgen, Delahanty, Douglas L, Domschke, Katharina, Dunlop, Boadie W, Dzubur-Kulenovic, Alma, Evans, Alexandra, Feeny, Norah C, Franz, Carol E, Gautam, Aarti, Geuze, Elbert, Goci, Aferdita, Hammamieh, Rasha, Jakovljevic, Miro, Jett, Marti, Jones, Ian, Kaufman, Milissa L, Kessler, Ronald C, King, Anthony P, Kremen, William S, Lawford, Bruce R, Lebois, Lauren AM, Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D, Lugonja, Bozo, Luykx, Jurjen J, Lyons, Michael J, Mavissakalian, Matig R, McLaughlin, Katie A, McLean, Samuel A, Mehta, Divya, Mellor, Rebecca, Morris, Charles Phillip, Muhie, Seid, Orcutt, Holly K, Peverill, Matthew, Ratanatharathorn, Andrew, Risbrough, Victoria B, Rizzo, Albert, Roberts, Andrea L, Rothbaum, Alex O, Rothbaum, Barbara O, Roy-Byrne, Peter, Ruggiero, Kenneth J, Rutten, Bart PF, Schijven, Dick, Seng, Julia S, Sheerin, Christina M, Sorenson, Michael A, Teicher, Martin H, Uddin, Monica, Ursano, Robert J, Vinkers, Christiaan H, Voisey, Joanne, Weber, Heike, Winternitz, Sherry, Xavier, Miguel, Yang, Ruoting, McD Young, Ross, Zoellner, Lori A, Psychiatric Genomics Consortium PTSD Working Group, Psychiatric Genomics Consortium CNV Working Group, Salem, Rany M, Shaffer, Richard A, Wu, Tianying, Ressler, Kerry J, Stein, Murray B, Koenen, Karestan C, Sebat, Jonathan, Nievergelt, Caroline M (September 2022) Rare copy number variation in posttraumatic stress disorder. Molecular Psychiatry. ISSN 1359-4184

Guha, S., Rees, E., Darvasi, A., Ivanov, D., Ikeda, M., Bergen, S. E., Magnusson, P. K., Cormican, P., Morris, D., Gill, M., Cichon, S., Rosenfeld, J. A., Lee, A., Gregersen, P. K., Kane, J. M., Malhotra, A. K., Rietschel, M., Nothen, M. M., Degenhardt, F., Priebe, L., Breuer, R., Strohmaier, J., Ruderfer, D. M., Moran, J. L., Chambert, K. D., Sanders, A. R., Shi, J. X., Kendler, K., Riley, B., O'Neill, T., Walsh, D., Malhotra, D., Corvin, A., Purcell, S., Sklar, P., Iwata, N., Hultman, C. M., Sullivan, P. F., Sebat, J., McCarthy, S., Gejman, P. V., Levinson, D. F., Owen, M. J., O'Donovan, M. C., Lencz, T., Kirov, G. (2013) Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia. Jama Psychiatry, 70 (3). pp. 253-260. ISSN 2168-622X

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)

Vacic, V., McCarthy, S. E., Malhotra, D., Murray, F., Chou, H. H., Peoples, A., Makarov, V., Yoon, S., Bhandari, A., Corominas, R., Iakoucheva, L. M., Krastoshevsky, O., Krause, V., Larach-Walters, V., Welsh, D. K., Craig, D., Kelsoe, J. R., Gershon, E. S., Leal, S. M., Aquila, M. D., Morris, D. W., Gill, M., Corvin, A., Insel, P. A., McClellan, J., King, M. C., Karayiorgou, M., Levy, D. L., Delisi, L. E., Sebat, J. (February 2011) Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature, 471 (7339). pp. 499-503. ISSN 1476-4687 (Electronic)0028-0836 (Linking)

Malhotra, D., McCarthy, S., Michaelson, J. J., Vacic, V., Burdick, K. E., Yoon, S., Cichon, S., Corvin, A., Gary, S., Gershon, E. S., Gill, M., Karayiorgou, M., Kelsoe, J. R., Krastoshevsky, O., Krause, V., Leibenluft, E., Levy, D. L., Makarov, V., Bhandari, A., Malhotra, A. K., McMahon, F. J., Nöthen, M. M., Potash, J. B., Rietschel, M., Schulze, T. G., Sebat, J. (2011) High frequencies of de novo cnvs in bipolar disorder and schizophrenia. Neuron, 72 (6). pp. 951-963. ISSN 08966273 (ISSN)

Walsh, T., Pierce, S. B., Lenz, D. R., Brownstein, Z., Dagan-Rosenfeld, O., Shahin, H., Roeb, W., McCarthy, S. E., Nord, A. S., Gordon, C. R., Ben-Neriah, Z., Sebat, J., Kanaan, M., Lee, M. K., Frydman, M., King, M. C., Avraham, K. B. (July 2010) Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51. American Journal of Human Genetics, 87 (1). 101-109 .

Aberg, K., Adkins, D. E., Bukszár, J., Webb, B. T., Caroff, S. N., Miller, D. D., Sebat, J., Stroup, S., Fanous, A. H., Vladimirov, V. I., McClay, J. L., Lieberman, J. A., Sullivan, P. F., van den Oord, E. J. C. G. (February 2010) Genomewide Association Study of Movement-Related Adverse Antipsychotic Effects. Biological Psychiatry, 67 (3). pp. 279-282.

McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R. A., Grozeva, D., Malhotra, D., Walsh, T., Zackai, E. H., Kaplan, P., Ganesh, J., Krantz, I. D., Spinner, N. B., Roccanova, P., Bhandari, A., Pavon, K., Lakshmi, B., Leotta, A., Kendall, J. T., Lee, Y. H., Vacic, V., Gary, S., Iakoucheva, L. M., Crow, T. J., Christian, S. L., Lieberman, J. A., Stroup, T. S., Lehtimaki, T., Puura, K., Haldeman-Englert, C., Pearl, J., Goodell, M., Willour, V. L., DeRosse, P., Steele, J., Kassem, L., Wolff, J., Chitkara, N., McMahon, F. J., Malhotra, A. K., Potash, J. B., Schulze, T. G., Nothen, M. M., Cichon, S., Rietschel, M., Leibenluft, E., Kustanovich, V., Lajonchere, C. M., Sutcliffe, J. S., Skuse, D., Gill, M., Gallagher, L., Mendell, N. R., Craddock, N., Owen, M. J., O'Donovan, M. C., Shaikh, T. H., Susser, E., DeLisi, L. E., Sullivan, P. F., Deutsch, C. K., Rapoport, J., Levy, D. L., King, M. C., Sebat, J. (November 2009) Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics, 41 (11). pp. 1223-1227. ISSN 1061-4036

Sebat, J., Levy, D. L., McCarthy, S. E. (October 2009) Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet.

Yoon, S., Xuan, Z., Makarov, V., Ye, K., Sebat, J. (September 2009) Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res, 19. p. 9.

Deutsch, C. K., Malhotra, D., Krause, V., McCarthy, S. E., Krastoshevsky, O., Coleman, M., Francis, R. W., Bodkin, J. A., Boling, L., Cole, J., Gibbs, A., Johnson, F., Lerbinger, J., Mendell, N. R., Sebat, J., Levy, D. L. (March 2009) Rare Gene Copy Number Variations Are Associated with Specific Endophenotypes in Schizophrenia. Schizophrenia Bulletin, 35 (Suppl.). p. 117. ISSN 0586-7614

Kim, W., Gordon, D., Sebat, J., Ye, K. Q., Finch, S. J. (October 2008) Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test. PLoS ONE, 3 (10). e3475.

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., Collins, A., Mercer, C., Norga, K., de Ravel, T., Devriendt, K., Bongers, E. M., de Leeuw, N., Reardon, W., Gimelli, S., Bena, F., Hennekam, R. C., Male, A., Gaunt, L., Clayton-Smith, J., Simonic, I., Park, S. M., Mehta, S. G., Nik-Zainal, S., Woods, C. G., Firth, H. V., Parkin, G., Fichera, M., Reitano, S., Lo Giudice, M., Li, K. E., Casuga, I., Broomer, A., Conrad, B., Schwerzmann, M., Raber, L., Gallati, S., Striano, P., Coppola, A., Tolmie, J. L., Tobias, E. S., Lilley, C., Armengol, L., Spysschaert, Y., Verloo, P., De Coene, A., Goossens, L., Mortier, G., Speleman, F., van Binsbergen, E., Nelen, M. R., Hochstenbach, R., Poot, M., Gallagher, L., Gill, M., McClellan, J., King, M. C., Regan, R., Skinner, C., Stevenson, R. E., Antonarakis, S. E., Chen, C., Estivill, X., Menten, B., Gimelli, G., Gribble, S., Schwartz, S., Sutcliffe, J. S., Walsh, T., Knight, S. J., Sebat, J., Romano, C., Schwartz, C. E., Veltman, J. A., de Vries, B. B., Vermeesch, J. R., Barber, J. C., Willatt, L., Tassabehji, M., Eichler, E. E. (October 2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. New England Journal of Medicine , 359 (16). pp. 1685-99.

McClellan, J. M., Walsh, T., McCarthy, S. E., King, M. C., Sebat, J. (August 2008) Gene mutations and cognitive delay. Science, 321 (5889). p. 640. ISSN 0036-8075

Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., Stray, S. M., Rippey, C. F., Roccanova, P., Makarov, V., Lakshmi, B., Findling, R. L., Sikich, L., Stromberg, T., Merriman, B., Gogtay, N., Butler, P., Eckstrand, K., Noory, L., Gochman, P., Long, R., Chen, Z., Davis, S., Baker, C., Eichler, E. E., Meltzer, P. S., Nelson, S. F., Singleton, A. B., Lee, M. K., Rapoport, J. L., King, M. C., Sebat, J. (April 2008) Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320 (5875). pp. 539-43.

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.

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)

Lucito, R., Suresh, S., Walter, K., Pandey, A., Lakshmi, B., Krasnitz, A., Sebat, J., Wigler, M. H., Klein, A. P., Brune, K., Palmisano, E., Maitra, A., Goggins, M., Hruban, R. H. (October 2007) Copy-Number Variants in Patients with a Strong Family History of Pancreatic Cancer. Cancer Biol Ther, 6 (10). pp. 1592-9. ISSN 1538-4047 (Print)

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)

Sebat, J. (July 2007) Major changes in our DNA lead to major changes in our thinking. Nat Genet, 39 (7 Supp). S3-5. ISSN 1061-4036 (Print)

Eichler, E. E., Nickerson, D. A., Altshuler, D., Bowcock, A. M., Brooks, L. D., Carter, N. P., Church, D. M., Felsenfeld, A., Guyer, M., Lee, C., Lupski, J. R., Mullikin, J. C., Pritchard, J. K., Sebat, J., Sherry, S. T., Smith, D., Valle, D., Waterston, R. H. (May 2007) Completing the map of human genetic variation. Nature, 447 (7141). pp. 161-165. ISSN 0028-0836

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

Navin, N. E., Grubor, V., Hicks, J. B., Leibu, E., Thomas, E., Troge, J., Riggs, M., Lundin, P., Månér, S., Sebat, J., Zetterberg, A., Wigler, M. H. (October 2006) PROBER: oligonucleotide FISH probe design software. Bioinformatics, 22 (19). pp. 2437-8. ISSN 1460-2059 (Electronic)

Jobanputra, V., Sebat, J., Troge, J., Chung, W., Anyane-Yeboa, K., Wigler, M. H., Warburton, D. (February 2005) Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. Genetics in Medicine, 7 (2). pp. 111-118. ISSN 1098-3600

Sebat, J., Lakshmi, B., Troge, J. E., Alexander, J., Young, J., Lundin, P., Maner, S., Massa, H., Walker, M., Chi, M., Navin, N. E., Lucito, R., Healy, J., Hicks, J. B., Ye, K., Reiner, A., Gilliam, T. C., Trask, B., Patterson, N., Zetterberg, A., Wigler, M. H. (July 2004) Large-scale copy number polymorphism in the human genome. Science, 305 (5683). pp. 525-8. ISSN 1095-9203 (Electronic)

Thomas, E. E., Srebro, N., Sebat, J., Navin, N., Healy, J., Mishra, B., Wigler, M. H. (July 2004) Distribution of short paired duplications in mammalian genomes. Proc Natl Acad Sci U S A, 101 (28). pp. 10349-54. ISSN 0027-8424 (Print)

Lucito, R., Healy, J., Alexander, J., Reiner, A., Esposito, D., Chi, M. Y., Rodgers, L., Brady, A., Sebat, J., Troge, J. E., West, J. A., Rostan, S., Nguyen, K. C. Q., Powers, S., Ye, K. Q., Olshen, A., Venkatraman, E., Norton, L., Wigler, M. H. (October 2003) Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation. Genome Research, 13 (10). pp. 2291-2305. ISSN 1088-9051

Sebat, J. L., Colwell, F. S., Crawford, R. L. (August 2003) Metagenomic profiling: microarray analysis of an environmental genomic library. Applied and Environmental Microbiology, 69 (8). pp. 4927-34. ISSN 00992240 (ISSN)

Cortese, M. S., Paszczynski, A., Lewis, T. A., Sebat, J. L., Borek, V., Crawford, R. L. (June 2002) Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes. Biometals, 15 (2). pp. 103-20. ISSN 0966-0844

Sebat, J. L., Paszczynski, A. J., Cortese, M. S., Crawford, R. L. (September 2001) Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp. Appl Environ Microbiol, 67 (9). pp. 3934-42.