Items where Subject is "bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > copy number variants"

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Number of items at this level: 58.

B

Baslan, T., Kendall, J., Ward, B., Cox, H., Leotta, A., Rodgers, L., Riggs, M., D'Italia, S., Sun, G., Yong, M., Miskimen, K., Gilmore, H., Saborowski, M., Dimitrova, N., Krasnitz, A., Harris, L., Wigler, M., Hicks, J. (May 2015) Optimizing sparse sequencing of single cells for highly multiplex copy number profiling. Genome Research, 25 (5). pp. 714-724. ISSN 1088-9051

Baslan, T., Kendall, J. T., Rodgers, L., Cox, H., Riggs, M., Stepansky, A., Troge, J. E., Ravi, K., Esposito, D., Lakshmi, B., Wigler, M., Navin, N. E., Hicks, J. B. (May 2012) Genome-wide copy number analysis of single cells. Nat Protoc, 7 (6). pp. 1024-41. ISSN 1750-2799 (Electronic)1750-2799 (Linking)

Burbulis, Ian E., Wierman, Margaret B., Wolpert, Matt, Haakenson, Mark, Lopes, Maria-Beatriz, Schiff, David, Hicks, James, Loe, Justin, Ratan, Aakrosh, McConnell, Michael J. (July 2018) Improved molecular karyotyping in Glioblastoma. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 11. pp. 16-26. ISSN 0027-5107

C

Chen, Y. C., Carter, H., Parla, J., Kramer, M., Goes, F. S., Pirooznia, M., Zandi, P. P., McCombie, W. R., Potash, J. B., Karchin, R. (January 2013) A Hybrid Likelihood Model for Sequence-Based Disease Association Studies. PLoS Genetics, 9 (1). ISSN 15537390 (ISSN)

D

Degenhardt, Y. Y., Wooster, R., McCombie, R. W., Lucito, R., Powers, S. (February 2008) High-content analysis of cancer genome DNA alterations. Current Opinion in Genetics & Development, 18 (1). pp. 68-72.

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

E

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

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Garvin, T., Aboukhalil, R., Kendall, J., Baslan, T., Atwal, G. S., Hicks, J., Wigler, M., Schatz, M. C. (November 2015) Interactive analysis and assessment of single-cell copy-number variations. Nat Methods, 12. pp. 1058-1060. ISSN 1548-7105 (Electronic)1548-7091 (Linking) (Public Dataset)

Garvin, Tyler, Aboukhalil, Robert, Kendall, Jude, Baslan, Timour, Atwal, Gurinder S, Hicks, James, Wigler, Michael, Schatz, Michael (2015) Interactive analysis and quality assessment of single-cell copy-number variations. Nature Methods, 12. pp. 1058-1060. ISSN 15487091 (ISSN)

Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F. L., Yang, H. M., Ch'ang, L. Y., Huang, W., Liu, B., Shen, Y., Tam, P. K. H., Tsui, L. C., Waye, M. M. Y., Wong, J. T. F., Zeng, C. Q., Zhang, Q. R., Chee, M. S., Galver, L. M., Kruglyak, S., Murray, S. S., Oliphant, A. R., Montpetit, A., Hudson, T. J., Chagnon, F., Ferretti, V., Leboeuf, M., Phillips, M. S., Verner, A., Kwok, P. Y., Duan, S. H., Lind, D. L., Miller, R. D., Rice, J. P., Saccone, N. L., Taillon-Miller, P., Xiao, M., Nakamura, Y., Sekine, A., Sorimachi, K., Tanaka, T., Tanaka, Y., Tsunoda, T., Yoshino, E., Bentley, D. R., Deloukas, P., Hunt, S., Powell, D., Altshuler, D., Gabriel, S. B., Qiu, R. Z., Ken, A., Dunston, G. M., Kato, K., Niikawa, N., Knoppers, B. M., Foster, M. W., Clayton, E. W., Wang, V. O., Watkin, J., Gibbs, R. A., Belmont, J. W., Sodergren, E., Weinstock, G. M., Wilson, R. K., Fulton, L. L., Rogers, J., Birren, B. W., Han, H., Wang, H. G., Godbout, M., Wallenburg, J. C., L'Archeveque, P., Bellemare, G., Todani, K., Fujita, T., Tanaka, S., Holden, A. L., Lai, E. H., Collins, F. S., Brooks, L. D., McEwen, J. E., Guyer, M. S., Jordan, E., Peterson, J. L., Spiegel, J., Sung, L. M., Zacharia, L. F., Kennedy, K., Dunn, M. G., Seabrook, R., Shillito, M., Skene, B., Stewart, J. G., Valle, D. L., Clayton, E. W., Jorde, L. B., Belmont, J. W., Chakravarti, A., Cho, M. K., Duster, T. (December 2003) The International HapMap Project. Nature, 426 (6968). pp. 789-796. ISSN 0028-0836

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., DePalma, S. R., Golhar, R., Sanders, S. J., Yamrom, B., Ronemus, M., Iossifov, I., Willsey, A. J., State, M. W., Kaltman, J. R., White, P. S., Shen, Y., Warburton, D., Brueckner, M., Seidman, C., Goldmuntz, E., Gelb, B. D., Lifton, R., Seidman, J., Hakonarson, H., Chung, W. K. (October 2014) Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circulation Research, 115 (10). pp. 884-96. ISSN 0009-7330

Grubor, V., Krasnitz, A., Troge, J. E., Meth, J. L., Lakshmi, B., Kendall, J. T., Yamrom, B., Alex, G., Pai, D., Navin, N. E., Hufnagel, L. A., Lee, Y. H., Cook, K., Allen, S. L., Rai, K. R., Damle, R. N., Calissano, C., Chiorazzi, N., Wigler, M. H., Esposito, D. (February 2009) Novel genomic alterations and clonal evolution in chronic lymphocytic leukemia revealed by representational oligonucleotide microarray analysis (ROMA). Blood, 113 (6). pp. 1294-1303. ISSN 0006-4971

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

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Harris, L. N., Parker, J., Broadwater, G., Schulz, V., Halligan, K., Geyda, K., Seidman, A., Berry, D., Winer, E., Hudis, C., Krasnitz, A., Hicks, J., Tuck, D. P., Perou, C. (December 2009) Genome-Wide Profiling of Archived Material from CALGB 9840 and 9342 for Paclitaxel (P) and Trastuzumab (T) Response Biomarkers Using Gene Expression and Copy Number Analysis. Cancer Research, 69 (24 (S3). 716S-717S. ISSN 0008-5472

Hicks, J. B. (November 2012) Talk from Jim Hicks at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)

Huang, A. Y., Yu, D., Davis, L. K., Sul, J. H., Tsetsos, F., Ramensky, V., Zelaya, I., Ramos, E. M., Osiecki, L., Chen, J. A., McGrath, L. M., Illmann, C., Sandor, P., Barr, C. L., Grados, M., Singer, H. S., Nothen, M. M., Hebebrand, J., King, R. A., Dion, Y., Rouleau, G., Budman, C. L., Depienne, C., Worbe, Y., Hartmann, A., Muller-Vahl, K. R., Stuhrmann, M., Aschauer, H., Stamenkovic, M., Schloegelhofer, M., Konstantinidis, A., Lyon, G. J., McMahon, W. M., Barta, C., Tarnok, Z., Nagy, P., Batterson, J. R., Rizzo, R., Cath, D. C., Wolanczyk, T., Berlin, C., Malaty, I. A., Okun, M. S., Woods, D. W., Rees, E., Pato, C. N., Pato, M. T., Knowles, J. A., Posthuma, D., Pauls, D. L., Cox, N. J., Neale, B. M., Freimer, N. B., Paschou, P., Mathews, C. A., Scharf, J. M., Coppola, G. (June 2017) Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron, 94 (6). 1101-1111.e7. ISSN 0896-6273

J

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

Kato, M., Kawaguchi, T., Ishikawa, S., Umeda, T., Nakamichi, R., Shapero, M. H., Jones, K. W., Nakamura, Y., Aburatani, H., Tsunoda, T. (2010) Population-genetic nature of copy number variations in the human genome. Human Molecular Genetics, 19 (5). pp. 761-773.

Kato, M., Vasco, D. A., Sugino, R., Narushima, D., Krasnitz, A. (September 2017) Sweepstake evolution revealed by population-genetic analysis of copy-number alterations in single genomes of breast cancer. R Soc Open Sci, 4 (9). p. 171060. ISSN 2054-5703 (Print)2054-5703

Kendall, J., Krasnitz, A. (July 2014) Computational methods for DNA copy-number analysis of tumors. Methods in Molecular Biology, 1176. pp. 243-59. ISSN 1940-6029 (Electronic)1064-3745 (Linking)

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.

Krasnitz, A. (November 2012) Talk from Alex Krasnitz at the Cold Spring Harbor Laboratory In-House Symposium (2012). [Video] (Unpublished)

Kuhn, P., Dago, A. E., Stepansky, A., Carlsson, A., Felch, N., Luttgen, M., Kolatkar, A., Hicks, J., Gross, M. E. (April 2013) Sequential monitoring of single-cell copy number variation in metastatic prostate cancer. Cancer Research, 73 (8 (Sup). p. 4599. ISSN 0008-5472

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)

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Lakshmi, B., Hall, I. M., Egan, C., Alexander, J., Leotta, A., Healy, J., Zender, L., Spector, M. S., Xue, W., Lowe, S. W., Wigler, M. H., Lucito, R. (July 2006) Mouse genomic representational oligonucleotide microarray analysis: detection of copy number variations in normal and tumor specimens. Proc Natl Acad Sci U S A, 103 (30). pp. 11234-9. ISSN 0027-8424 (Print)

Lee, Y. H., Ronemus, M., Kendall, J., Lakshmi, B., Leotta, A., Levy, D., Esposito, D., Grubor, V., Ye, K., Wigler, M., Yamrom, B. (January 2012) Reducing system noise in copy number data using principal components of self-self hybridizations. Proceedings of the National Academy of Sciences of the United States of America, 109 (3). E103-E110. ISSN 0027-8424

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

Levy, D., Wigler, M. (October 2014) Facilitated sequence counting and assembly by template mutagenesis. Proceedings of the National Academy of Sciences of the United States of America, 111 (43). E4632-E4637. ISSN 0027-8424

Lucito, R., West, J., Reiner, A., Alexander, J., Esposito, D., Mishra, B., Powers, S., Norton, L., Wigler, M. H. (November 2000) Detecting gene copy number fluctuations in tumor cells by microarray analysis of genomic representations. Genome Research, 10 (11). pp. 1726-1736. ISSN 1088-9051

M

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)

Maron, L. G., Guimaraes, C. T., Kirst, M., Albert, P. S., Birchler, J. A., Bradbury, P. J., Buckler, E. S., Coluccio, A. E., Danilova, T. V., Kudrna, D., Magalhaes, J. V., Pineros, M. A., Schatz, M. C., Wing, R. A., Kochian, L. V. (March 2013) Aluminum tolerance in maize is associated with higher MATE1 gene copy number. Proceedings of the National Academy of Sciences of the United States of America, 110 (13). pp. 5241-5246. ISSN 0027-8424

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

McGrath, Lauren M., Yu, Dongmei, Marshall, Christian, Davis, Lea K., Thiruvahindrapuram, Bhooma, Li, Bingbin, Cappi, Carolina, Geber, Gloria, Wolf, Aaron, Schroeder, Frederick A., Osiecki, Lisa, O'Dushlaine, Colm, Kirby, Andrew, Illman, Cornelia, Haddad, Stephen, Gallagher, Patience, Fagerness, Jesen A., Barr, Cathy L., Bellodi, Laura, Benarroch, Fortu, Bienvenu, O. Joseph, Black, Donald W., Bloch, Michael H. , Bruun, Ruth D., Budman, Cathy L., Camarena, Beatriz, Cath, Danielle C., Cavallini, Maria C,, Chouinard, Sylvain, Coric , Vladimir, Cullen, Bernadette, Delomre, Richard, Denys, Damiaan, Derks, Eske M., Dion, Yves, Rosario, Maria C., Eapen, Valsama, Evans, Patrick, Falkai, Peter, Fernanadez , Thomas, Garrido, Helena, Geller, Daniel, Grabe, Hans J., Grados, Marco A., Greenberg, Benjamin D., Gross-Tsur, Varda, Grunblatt, Edna, Heiman , Gary A, Hemmings, Sian M.J., Herrera, Luis D., Hounie, Ana G., Jankovic, Joseph, Kennedy, James L., King, Robert A., Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F., Lennertz, Leonhard, Lochner , Christine, Lowe, Thomas L., Lyon, Gholson J,, Maccaiardi, Fabio, Maier, Wolfgang, McCracken, James T., McMahon, William, Murphy, Dennis L., Naarden, Allan L., Neale, Benjamin M., Nurmi, Erika, Pakstis , Andrew J,, Pato, Michele T., Pato, Carlos N., Piacentini, John, Pittenger, Christopher, Pollak, Yehuda, Reus, Victor I., Richter, Maragret A., Riddle, Mark, Robertson, Mary M., Rosenberg, David , Rouleau, Guy A., Ruhrmann, Stephan, Sampaio, Aline S., Samuels, Jack, Sandor, Paul, Sheppard, Brooke, Singer, Harvey S., Smit, Jan H., Stein , Dan J., Tishfield, Jay A., Vallada, Homero, Veenstra-VanderWeele, Jeremy, Walitza, Susanne, Wang, Ying, Wendland, Jens R., Shugart , Yin Yao, Miguel, Euripedes C., Nicolini, Humberto, Oostra, Ben A., Moessner, Rainald, Wagner, Michael, Ruiz-Linares, Andres, Heutink, Peter, Nestadt, Gerald, Freimer, Nelson, Petryshen, Tracey, Posthuma, Danielle, Jenike, Michael A., Cox, Nancy J., Hanna, Gregory L., Brentani, Helena, Schrerer , Stephen W., Arnold, Paul D., Stewart, S. Evelyn, Matthews, Carol A., Knowles, James A., Cook, Edwin H., Pauls, David L., Wang, Kai, Scharf, Jeremiah M. (April 2014) Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study. Journal of American Academy of Child & Adolescent Psychiatry, 53 (8). pp. 910-9. (In Press)

Munoz, Adriana, Yamrom, Boris, Lee, Yoon-ha, Andrews, Peter, Marks, Steven, Lin, Kuan-Ting, Wang, Zihua, Krainer, Adrian R., Darnell, Robert B., Wigler, Michael, Iossifov, Ivan (May 2017) De novo indels within introns contribute to ASD incidence. bioRxiv. p. 137471. (Unpublished)

N

Navin, N. E., Kendall, J. T., Troge, J. E., Andrews, P., Rodgers,  L., McIndoo, J., Cook, K., Stepansky,  A., Levy, D., Esposito, D., Muthuswamy, L., Krasnitz, A., McCombie, W. R., Hicks, J. B., Wigler, M. H. (2011) Tumour evolution inferred by single-cell sequencing. Nature, 472 (7341). pp. 90-94. ISSN 00280836 (ISSN)

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)

O

Olshen, A. B., Venkatraman, E. S., Lucito, R., Wigler, M. H. (October 2004) Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics, 5 (4). pp. 557-572. ISSN 1465-4644

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Pelham, R. J., Rodgers, L., Hall, I. M., Lucito, R., Nguyen, K. C. Q., Navin, N. E., Hicks, J. B., Mu, D., Powers, S., Wigler, M. H., Botstein, D. (December 2006) Identification of alterations in DNA copy number in host stromal cells during tumor progression. Proc Natl Acad Sci U S A, 103 (52). pp. 19848-19853. ISSN 0027-8424

Pratt, E. D., Stepansky, A., Hicks, J., Kirby, B. J. (November 2014) Single-cell copy number analysis of prostate cancer cells captured with geometrically enhanced differential immunocapture microdevices. Analytical Chemistry, 86 (22). pp. 11013-7. ISSN 0003-2700

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Sangha, N., Wu, R., Kuick, R., Powers, S., Mu, D., Fiander, D., Yuen, K., Katabuchi, H., Tashiro, H., Fearon, E. R., Cho, K. R. (December 2008) Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. Neoplasia, 10 (12). pp. 1362-72.

Scorer, C. A., Clare, J. J., McCombie, W. R., Romanos, M. A., Sreekrishna, K. (1994) Rapid selection using G418 of high copy number transformants of Pichia pastoris for high-level foreign gene expression. Nature Biotechnology, 12 (2). pp. 181-184. ISSN 10870156 (ISSN)

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)

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

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)

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)

Smith, J. C., Sheltzer, J. M. (December 2018) Systematic identification of mutations and copy number alterations associated with cancer patient prognosis. Elife, 7. ISSN 2050-084x

Stadler, Z. K., Esposito, D., Shah, S., Vijai, J., Yamrom, B., Levy, D., Lee, Y. H., Kendall, J., Leotta, A., Ronemus, M., Hansen, N. , Sarrel, K., Rau-Murthy, R., Schrader, K., Kauff, N., Klein, R., Lipkin, S., Murali, R., Robson, M., Sheinfeld, J., Feldman, D., Bosl, G., Norton, L., Wigler, M., Offit, K. (August 2012) Rare De Novo Germline Copy-Number Variation in Testicular Cancer. The American Journal of Human Genetics, 91 (2). pp. 379-383. ISSN 0002-9297

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Tang, M. H. E., Varadan, V., Kamalakaran, S., Zhang, M. Q., Dimitrova, N., Hicks, J. (2011) A method for finding novel associations between genome-wide copy number and dna methylation patterns. IEEE International Workshop on Genomic Signal Processing and Statistics (GENSIPS). pp. 78-82.

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

V

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)

W

Wang, Z., Andrews, P., Kendall, J., Ma, B., Hakker, I., Rodgers, L., Ronemus, M., Wigler, M., Levy, D. (June 2016) SMASH, a fragmentation and sequencing method for genomic copy number analysis. Genome Res, 26 (6). pp. 844-51. ISSN 1549-5469 (Electronic)1088-9051 (Linking) (Public Dataset)

Warburton, D., Ronemus, M., Kline, J., Jobanputra, V., Williams, I., Anyane-Yeboa, K., Chung, W., Yu, L., Wong, N., Awad, D., Yu, C. Y., Leotta, A., Kendall, J., Yamrom, B., Lee, Y. H., Wigler, M., Levy, D. (January 2014) The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease. Human Genetics, 133 (1). pp. 11-27. ISSN 1432-1203 (Electronic)0340-6717 (Linking)

Wrzeszczynski, K. O., Varadan, V., Byrnes, J., Lum, E., Kamalakaran, S., Levine, D. A., Dimitrova, N., Zhang, M. Q., Lucito, R. (December 2011) Identification of Tumor Suppressors and Oncogenes from Genomic and Epigenetic Features in Ovarian Cancer. PLoS ONE, 6 (12). ISSN 1932-6203

Wu, Yiyang (March 2013) The evolution of MIP technology. Journal Club. (Unpublished)

Y

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.

Z

Zepeda-Mendoza, C. J. (September 2014) Impact of copy number variation on chromatin interactions at the mouse 4e2 chromosome region. PhD thesis, Cold Spring Harbor Laboratory.

This list was generated on Wed Jul 17 03:08:45 2019 EDT.
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