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Paper

Aguzzoli Heberle, Bernardo, Brandon, J Anthony, Page, Madeline L, Nations, Kayla A, Dikobe, Ketsile I, White, Brendan J, Gordon, Lacey A, Fox, Grant A, Wadsworth, Mark E, Doyle, Patricia H, Williams, Brittney A, Fox, Edward J, Shantaraman, Anantharaman, Ryten, Mina, Goodwin, Sara, Ghiban, Elena, Wappel, Robert, Mavruk-Eskipehlivan, Senem, Miller, Justin B, Seyfried, Nicholas T, Nelson, Peter T, Fryer, John D, Ebbert, Mark TW (May 2024) Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq. Nature Biotechnology. ISSN 1087-0156 (Public Dataset)

Heberle, Bernardo Aguzzoli, Brandon, J Anthony, Page, Madeline L, Nations, Kayla A, Dikobe, Ketsile I, White, Brendan J, Gordon, Lacey A, Fox, Grant A, Wadsworth, Mark E, Doyle, Patricia H, Williams, Brittney A, Fox, Edward J, Shantaraman, Anantharaman, Ryten, Mina, Goodwin, Sara, Ghiban, Elena, Wappel, Robert, Mavruk-Eskipehlivan, Senem, Miller, Justin B, Seyfried, Nicholas T, Nelson, Peter T, Fryer, John D, Ebbert, Mark TW (December 2023) Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity. bioRxiv. (Submitted)

Baslan, Timour, Morris, John P, Zhao, Zhen, Reyes, Jose, Ho, Yu-Jui, Tsanov, Kaloyan M, Bermeo, Jonathan, Tian, Sha, Zhang, Sean, Askan, Gokce, Yavas, Aslihan, Lecomte, Nicolas, Erakky, Amanda, Varghese, Anna M, Zhang, Amy, Kendall, Jude, Ghiban, Elena, Chorbadjiev, Lubomir, Wu, Jie, Dimitrova, Nevenka, Chadalavada, Kalyani, Nanjangud, Gouri J, Bandlamudi, Chaitanya, Gong, Yixiao, Donoghue, Mark TA, Socci, Nicholas D, Krasnitz, Alex, Notta, Faiyaz, Leach, Steve D, Iacobuzio-Donahue, Christine A, Lowe, Scott W (August 2022) Ordered and deterministic cancer genome evolution after p53 loss. Nature. ISSN 0028-0836

Ryan, N. M., Lihm, J., Kramer, M., McCarthy, S., Morris, S. W., Arnau-Soler, A., Davies, G., Duff, B., Ghiban, E., Hayward, C., Deary, I. J., Blackwood, D. H. R., Lawrie, S. M., McIntosh, A. M., Evans, K. L., Porteous, D. J., McCombie, W. R., Thomson, P. A. (June 2018) DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders. Mol Psychiatry, 23 (12). pp. 2254-2285. ISSN 1359-4184

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)

Schatz, M. C., Maron, L. G., Stein, J. C., Hernandez Wences, A., Gurtowski, J., Biggers, E., Lee, H., Kramer, M., Antoniou, E., Ghiban, E., Wright, M. H., Chia, J. M., Ware, D., McCouch, S. R., McCombie, W. R. (December 2014) Whole genome de novo assemblies of three divergent strains of rice, Oryza sativa, document novel gene space of aus and indica. Genome Biol, 15 (11). p. 506. ISSN 1465-6906

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

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

Conference or Workshop Item

Ryan, Niamh, Lihm, Jayon, Kramer, Melissa, McCarthy, Shane, Evans, Kathryn, Ghiban, Elena, Millar, J Kirsty, Scotland, Generation, McIntosh, Andrew, Blackwood, Douglas, Lawrie, Stephen, Porteous, David, McCombie, W Richard, Thomson, Pippa (2019) BEYOND THE TRANSLOCATION: WHOLE GENOME SEQUENCING ANALYSIS OF THE SCOTTISH T(1;11) FAMILY. In: 25th World Congress of Psychiatric Genetics (WCPG).