Browse by CSHL Author

Tamura, K., Yu, J., Hata, T., Suenaga, M., Shindo, K., Abe, T., MacGregor-Das, A., Borges, M., Wolfgang, C. L., Weiss, M. J., He, J., Canto, M. I., Petersen, G. M., Gallinger, S., Syngal, S., Brand, R. E., Rustgi, A., Olson, S. H., Stoffel, E., Cote, M. L., Zogopoulos, G., Potash, J. B., Goes, F. S., McCombie, R. W., Zandi, P. P., Pirooznia, M., Kramer, M., Parla, J., Eshleman, J. R., Roberts, N. J., Hruban, R. H., Klein, A. P., Goggins, M. (May 2018) Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer. Proc Natl Acad Sci U S A, 115 (18). pp. 4767-4772. ISSN 0027-8424

Monson, E. T., Pirooznia, M., Parla, J., Kramer, M., Goes, F. S., Gaine, M. E., Gaynor, S. C., de Klerk, K., Jancic, D., Karchin, R., McCombie, W. R., Zandi, P. P., Potash, J. B., Willour, V. L. (July 2017) Assessment of Whole-Exome Sequence Data in Attempted Suicide within a Bipolar Disorder Cohort. Mol Neuropsychiatry, 3 (1). pp. 1-11. ISSN 2296-9209 (Print)2296-9179

Goes, F. S., Pirooznia, M., Parla, J. S., Kramer, M., Ghiban, E., Mavruk, S., Chen, Y. C., Monson, E. T., Willour, V. L., Karchin, R., Flickinger, M., Locke, A. E., Levy, S. E., Scott, L. J., Boehnke, M., Stahl, E., Moran, J. L., Hultman, C. M., Landen, M., Purcell, S. M., Sklar, P., Zandi, P. P., McCombie, W. R., Potash, J. B. (July 2016) Exome Sequencing of Familial Bipolar Disorder. JAMA Psychiatry, 73 (6). pp. 590-597. ISSN 2168-6238 (Electronic)2168-622X (Linking)

Roberts, N. J., Norris, A. L., Petersen, G. M., Bondy, M. L., Brand, R., Gallinger, S., Kurtz, R. C., Olson, S. H., Rustgi, A. K., Schwartz, A. G., Stoffel, E. M., Syngal, S., Zogopoulos, G., Ali, S. Z., Axilbund, J., Chaffee, K. G., Chen, Y. C., Cote, M. L., Childs, E. J., Douville, C., Goes, F. S., Herman, J. M., Iacobuzio-Donahue, C., Kramer, M., Makohon-Moore, A., McCombie, R. W., McMahon, K. W., Niknafs, N., Parla, J., Pirooznia, M., Potash, J. B., Rhim, A. D., Smith, A. L., Wang, Y., Wolfgang, C. L., Wood, L. D., Zandi, P. P., Goggins, M., Karchin, R., Eshleman, J. R., Papadopoulos, N., Kinzler, K. W., Vogelstein, B., Hruban, R. H., Klein, A. P. (February 2016) Whole genome sequencing defines the genetic heterogeneity of familial pancreatic cancer. Cancer Discov, 6 (2). pp. 166-175. ISSN 2159-8290 (Electronic)2159-8274 (Linking)

Pirooznia, M., Kramer, M., Parla, J., Goes, F. S., Potash, J. B., McCombie, W. R., Zandi, P. P. (July 2014) Validation and assessment of variant calling pipelines for next-generation sequencing. Human Genomics, 8. ISSN 1473-95421479-7364 eISSN

Thomson, P. A., Parla, J. S., McRae, A. F., Kramer, M., Ramakrishnan, K., Yao, J., Soares, D. C., McCarthy, S., Morris, S. W., Cardone, L., Cass, S., Ghiban, E., Hennah, W., Evans, K. L., Rebolini, D., Millar, J. K., Harris, S. E., Starr, J. M., MacIntyre, D. J., McIntosh, A. M., Watson, J. D., Deary, I. J., Visscher, P. M., Blackwood, D. H., McCombie, W. R., Porteous, D. J. (June 2014) 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: Analysis for association with psychiatric disorder and cognitive traits. Molecular Psychiatry, 19 (6). pp. 668-675. ISSN 14765578

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)

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

Tyekucheva, S., Yolken, R. H., McCombie, W. R., Parla, J., Kramer, M., Wheelan, S. J., Sabunciyan, S. (October 2011) Establishing the baseline level of repetitive element expression in the human cortex. BMC Genomics, 12. article number 495. ISSN 1471-2164

Parla, J. S., Iossifov, I., Grabill, I., Spector, M. S., Kramer, M., McCombie, W. R. (September 2011) A comparative analysis of exome capture. Genome Biology, 12 (9). R97. ISSN 1474-7596

Parla, J., Kramer, M. R., McCombie, W. R. (2011) High-Throughput Sequencing. In: Microbial Forensics (Second Edition). Academic Press, San Diego, pp. 461-478.

Parla, J, Kramer, M, McCombie, WR (January 2010) High-Throughput Sequencing. In: Microbial Forensics, Second Edition. UNSPECIFIED, pp. 461-478. ISBN 9780123820068