Towards a comprehensive structural variation map of an individual human genome

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Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW. Towards a comprehensive structural variation map of an individual human genome. Genome Biol. 2010;11(5):R52

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and...

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Timmermann B, Kerick M, Roehr C, Fischer A, Isau M, Boerno ST, Wunderlich A, Barmeyer C, Seemann P, Koenig J, Lappe M, Kuss AW, Garshasbi M, Bertram L, Trappe K, Werber M, Herrmann BG, Zatloukal K, Lehrach H, Schweiger MR. Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis. PLoS One. 2010 Dec 22;5(12):e15661

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure

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Storlazzi CT, Lonoce A, Guastadisegni MC, Trombetta D, D'Addabbo P, Daniele G, L'Abbate A, Macchia G, Surace C, Kok K, Ullmann R, Purgato S, Palumbo O, Carella M, Ambros PF, Rocchi M. Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure. Genome Res. 2010 Sep;20(9):1198-206

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

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Pérez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, Derain-Court J, Cassinat B, Lachenaud J, Kaltenbach S, Salmon A, Désirée C, Pereira S, Menot ML, Royer N, Fenneteau O, Baruchel A, Chomienne C, Verloes A, Cavé H. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet. 2010 Oct;47(10):686-91

The PAX5 gene is frequently rearranged in BCR-ABL1-positive acute lymphoblastic leukemia but is not associated with outcome...

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Iacobucci I, Lonetti A, Paoloni F, Papayannidis C, Ferrari A, Storlazzi CT, Vignetti M, Cilloni D, Messa F, Guadagnuolo V, Paolini S, Elia L, Messina M, Vitale A, Meloni G, Soverini S, Pane F, Baccarani M, Foà R, Martinelli G. The PAX5 gene is frequently rearranged in BCR-ABL1-positive acute lymphoblastic leukemia but is not associated with outcome. A report on behalf of the GIMEMA Acute Leukemia Working Party Haematologica. 2010 Oct;95(10):1683-90.

High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity..

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Cheung, K-J.J., Delaney, A., Ben-Neriah, S., Schein, J., Lee, T., Shah, S.P., Cheung, D., Johnson, N.A., Mungall, A.J., Telenius, A., Lai, B., Boyle, M., Connors, J.M., Gascoyne, R.D., Marra, M.A., & Horsman, D.E. High resolution analysis of follicular lymphoma genomes reveals somatic recurrent sites of copy-neutral loss of heterozygosity and copy number alterations that target single genes. doi:10.1002/gcc.20780.

Deletion of Keap1 in the Lung Attenuates Acute Cigarette Smoke-induced Oxidative Stress and Inflammation

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Blake, D.J., Singh, A., Kombairaju, P., Malhotra, D., Mariani, T.J., Tuder, R.M., Gabrielson, E., & Biswal, S. Deletion of Keap1 in the Lung Attenuates Acute Cigarette Smoke-induced Oxidative Stress and Inflammation. Am. J. Respir. Cell Mol. Biol. 2010; 42:524-536. doi:10.1165/rcmb.2009-0054OC.

Human Embryonic Stem Cells as Models for Aneuploid Chromosomal Syndromes

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Biancotti, J-C., Narwani, K., Buehler, N., Mandefro, B., Golan-Lev, T., Yanuka, O., Clark, A.T., Hill, D., Benvenisty, N., & Lavon, N. Human Embryonic Stem Cells as Models for Aneuploid Chromosomal Syndromes. Stem Cells, 2010. doi:10.1002/stem.483.