{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T20:33:23Z","timestamp":1773779603367,"version":"3.50.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"7409","license":[{"start":{"date-parts":[[2012,7,22]],"date-time":"2012-07-22T00:00:00Z","timestamp":1342915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2012,7,22]],"date-time":"2012-07-22T00:00:00Z","timestamp":1342915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[2012,8,2]]},"DOI":"10.1038\/nature11329","type":"journal-article","created":{"date-parts":[[2012,7,20]],"date-time":"2012-07-20T09:43:43Z","timestamp":1342777423000},"page":"106-110","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":655,"title":["Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations"],"prefix":"10.1038","volume":"488","author":[{"given":"Trevor J.","family":"Pugh","sequence":"first","affiliation":[]},{"given":"Shyamal Dilhan","family":"Weeraratne","sequence":"additional","affiliation":[]},{"given":"Tenley C.","family":"Archer","sequence":"additional","affiliation":[]},{"given":"Daniel A.","family":"Pomeranz Krummel","sequence":"additional","affiliation":[]},{"given":"Daniel","family":"Auclair","sequence":"additional","affiliation":[]},{"given":"James","family":"Bochicchio","sequence":"additional","affiliation":[]},{"given":"Mauricio O.","family":"Carneiro","sequence":"additional","affiliation":[]},{"given":"Scott L.","family":"Carter","sequence":"additional","affiliation":[]},{"given":"Kristian","family":"Cibulskis","sequence":"additional","affiliation":[]},{"given":"Rachel L.","family":"Erlich","sequence":"additional","affiliation":[]},{"given":"Heidi","family":"Greulich","sequence":"additional","affiliation":[]},{"given":"Michael S.","family":"Lawrence","sequence":"additional","affiliation":[]},{"given":"Niall J.","family":"Lennon","sequence":"additional","affiliation":[]},{"given":"Aaron","family":"McKenna","sequence":"additional","affiliation":[]},{"given":"James","family":"Meldrim","sequence":"additional","affiliation":[]},{"given":"Alex H.","family":"Ramos","sequence":"additional","affiliation":[]},{"given":"Michael G.","family":"Ross","sequence":"additional","affiliation":[]},{"given":"Carsten","family":"Russ","sequence":"additional","affiliation":[]},{"given":"Erica","family":"Shefler","sequence":"additional","affiliation":[]},{"given":"Andrey","family":"Sivachenko","sequence":"additional","affiliation":[]},{"given":"Brian","family":"Sogoloff","sequence":"additional","affiliation":[]},{"given":"Petar","family":"Stojanov","sequence":"additional","affiliation":[]},{"given":"Pablo","family":"Tamayo","sequence":"additional","affiliation":[]},{"given":"Jill P.","family":"Mesirov","sequence":"additional","affiliation":[]},{"given":"Vladimir","family":"Amani","sequence":"additional","affiliation":[]},{"given":"Natalia","family":"Teider","sequence":"additional","affiliation":[]},{"given":"Soma","family":"Sengupta","sequence":"additional","affiliation":[]},{"given":"Jessica Pierre","family":"Francois","sequence":"additional","affiliation":[]},{"given":"Paul A.","family":"Northcott","sequence":"additional","affiliation":[]},{"given":"Michael D.","family":"Taylor","sequence":"additional","affiliation":[]},{"given":"Furong","family":"Yu","sequence":"additional","affiliation":[]},{"given":"Gerald R.","family":"Crabtree","sequence":"additional","affiliation":[]},{"given":"Amanda G.","family":"Kautzman","sequence":"additional","affiliation":[]},{"given":"Stacey B.","family":"Gabriel","sequence":"additional","affiliation":[]},{"given":"Gad","family":"Getz","sequence":"additional","affiliation":[]},{"given":"Natalie","family":"J\u00e4ger","sequence":"additional","affiliation":[]},{"given":"David T. W.","family":"Jones","sequence":"additional","affiliation":[]},{"given":"Peter","family":"Lichter","sequence":"additional","affiliation":[]},{"given":"Stefan M.","family":"Pfister","sequence":"additional","affiliation":[]},{"given":"Thomas M.","family":"Roberts","sequence":"additional","affiliation":[]},{"given":"Matthew","family":"Meyerson","sequence":"additional","affiliation":[]},{"given":"Scott L.","family":"Pomeroy","sequence":"additional","affiliation":[]},{"given":"Yoon-Jae","family":"Cho","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2012,7,22]]},"reference":[{"key":"BFnature11329_CR1","unstructured":"Central Brain Tumor Registry of the United States. Statistical Report: Primary Brain and Central Nervous System Tumors Diagnosed in the United States in 2004\u20132007http:\/\/www.cbtrus.org\/2011-NPCR-SEER\/WEB-0407-Report-3-3-2011.pdf (CBTRUS, 2011)"},{"key":"BFnature11329_CR2","doi-asserted-by":"publisher","first-page":"1424","DOI":"10.1200\/JCO.2010.28.5148","volume":"29","author":"Y-J Cho","year":"2011","unstructured":"Cho, Y.-J. et al. Integrative genomic analysis of medulloblastoma identifies a molecular subgroup that drives poor clinical outcome. J. Clin. Oncol. 29, 1424\u20131430 (2011)","journal-title":"J. Clin. Oncol."},{"key":"BFnature11329_CR3","doi-asserted-by":"publisher","first-page":"e3088","DOI":"10.1371\/journal.pone.0003088","volume":"3","author":"M Kool","year":"2008","unstructured":"Kool, M. et al. Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. PLoS ONE 3, e3088 (2008)","journal-title":"PLoS ONE"},{"key":"BFnature11329_CR4","doi-asserted-by":"publisher","first-page":"2717","DOI":"10.1200\/JCO.2011.34.9373","volume":"29","author":"M Remke","year":"2011","unstructured":"Remke, M. et al. Adult medulloblastoma comprises three major molecular variants. J. Clin. Oncol. 29, 2717\u20132723 (2011)","journal-title":"J. Clin. Oncol."},{"key":"BFnature11329_CR5","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1007\/s00401-011-0922-z","volume":"123","author":"MDetal Taylor","year":"2012","unstructured":"Taylor, M. D. e. t. a. l. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol. 123, 465\u2013472 (2012)","journal-title":"Acta Neuropathol."},{"key":"BFnature11329_CR6","doi-asserted-by":"publisher","first-page":"1313","DOI":"10.1002\/cncr.26387","volume":"118","author":"NR Smoll","year":"2012","unstructured":"Smoll, N. R. Relative survival of childhood and adult medulloblastomas and primitive neuroectodermal tumors (PNETs). Cancer 118, 1313\u20131322 (2012)","journal-title":"Cancer"},{"key":"BFnature11329_CR7","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1126\/science.1198056","volume":"331","author":"DW Parsons","year":"2011","unstructured":"Parsons, D. W. et al. The genetic landscape of the childhood cancer medulloblastoma. Science 331, 435\u2013439 (2011)","journal-title":"Science"},{"key":"BFnature11329_CR8","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1126\/science.1138764","volume":"317","author":"G Getz","year":"2007","unstructured":"Getz, G. et al. Comment on \u201cThe consensus coding sequences of human breast and colorectal cancers.\u201d. Science 317, 1500 (2007)","journal-title":"Science"},{"key":"BFnature11329_CR9","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1007\/s00439-002-0695-5","volume":"110","author":"JE Ming","year":"2002","unstructured":"Ming, J. E. et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum. Genet. 110, 297\u2013301 (2002)","journal-title":"Hum. Genet."},{"key":"BFnature11329_CR10","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1038\/nature10733","volume":"481","author":"J Zhang","year":"2012","unstructured":"Zhang, J. et al. A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature 481, 329\u2013334 (2012)","journal-title":"Nature"},{"key":"BFnature11329_CR11","doi-asserted-by":"publisher","first-page":"6153","DOI":"10.1182\/blood-2011-07-365320","volume":"118","author":"V Grossmann","year":"2011","unstructured":"Grossmann, V. et al. Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 118, 6153\u20136163 (2011)","journal-title":"Blood"},{"key":"BFnature11329_CR12","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/nsmb.1983","volume":"18","author":"J Oberoi","year":"2011","unstructured":"Oberoi, J. et al. Structural basis for the assembly of the SMRT\/NCoR core transcriptional repression machinery. Nature Struct. Mol. Biol. 18, 177\u2013184 (2011)","journal-title":"Nature Struct. Mol. Biol."},{"key":"BFnature11329_CR13","doi-asserted-by":"publisher","first-page":"3245","DOI":"10.1073\/pnas.0330217100","volume":"100","author":"SH Baek","year":"2003","unstructured":"Baek, S. H. et al. Regulated subset of G1 growth-control genes in response to derepression by the Wnt pathway. Proc. Natl Acad. Sci. USA 100, 3245\u20133250 (2003)","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnature11329_CR14","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1038\/nrc3068","volume":"11","author":"BG Wilson","year":"2011","unstructured":"Wilson, B. G. & Roberts, C. W. M. SWI\/SNF nucleosome remodellers and cancer. Nature Rev. Cancer 11, 481\u2013492 (2011)","journal-title":"Nature Rev. Cancer"},{"key":"BFnature11329_CR15","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1038\/nrc1299","volume":"4","author":"PA Futreal","year":"2004","unstructured":"Futreal, P. A. et al. A census of human cancer genes. Nature Rev. Cancer 4, 177\u2013183 (2004)","journal-title":"Nature Rev. Cancer"},{"key":"BFnature11329_CR16","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1016\/j.devcel.2006.10.001","volume":"11","author":"R Satow","year":"2006","unstructured":"Satow, R., Kurisaki, A., Chan, T.-c., Hamazaki, T. S. & Asashima, M. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction. Dev. Cell 11, 763\u2013774 (2006)","journal-title":"Dev. Cell"},{"key":"BFnature11329_CR17","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1016\/j.cell.2011.06.034","volume":"146","author":"TR Peterson","year":"2011","unstructured":"Peterson, T. R. et al. mTOR complex 1 regulates lipin 1 localization to control the SREBP pathway. Cell 146, 408\u2013420 (2011)","journal-title":"Cell"},{"key":"BFnature11329_CR18","doi-asserted-by":"publisher","first-page":"e19810","DOI":"10.1371\/journal.pone.0019810","volume":"6","author":"A Garbelli","year":"2011","unstructured":"Garbelli, A., Beermann, S., Di Cicco, G., Dietrich, U. & Maga, G. A motif unique to the human dead-box protein DDX3 is important for nucleic acid binding, ATP hydrolysis, RNA\/DNA unwinding and HIV-1 replication. PLoS ONE 6, e19810 (2011)","journal-title":"PLoS ONE"},{"key":"BFnature11329_CR19","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.jmb.2007.06.050","volume":"372","author":"M H\u00f6gbom","year":"2007","unstructured":"H\u00f6gbom, M. et al. Crystal structure of conserved domains 1 and 2 of the human DEAD-box helicase DDX3X in complex with the mononucleotide AMP. J. Mol. Biol. 372, 150\u2013159 (2007)","journal-title":"J. Mol. Biol."},{"key":"BFnature11329_CR20","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.cell.2006.01.054","volume":"125","author":"T Sengoku","year":"2006","unstructured":"Sengoku, T., Nureki, O., Nakamura, A., Kobayashi, S. & Yokoyama, S. Structural basis for RNA unwinding by the DEAD-box protein Drosophila Vasa. Cell 125, 287\u2013300 (2006)","journal-title":"Cell"},{"key":"BFnature11329_CR21","doi-asserted-by":"publisher","first-page":"2497","DOI":"10.1056\/NEJMoa1109016","volume":"365","author":"L Wang","year":"2011","unstructured":"Wang, L. et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N. Engl. J. Med. 365, 2497\u20132506 (2011)","journal-title":"N. Engl. J. Med."},{"key":"BFnature11329_CR22","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1126\/science.1208130","volume":"333","author":"N Stransky","year":"2011","unstructured":"Stransky, N. et al. The mutational landscape of head and neck squamous cell carcinoma. Science 333, 1157\u20131160 (2011)","journal-title":"Science"},{"key":"BFnature11329_CR23","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/nature07517","volume":"456","author":"DR Bentley","year":"2008","unstructured":"Bentley, D. R. et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456, 53\u201359 (2008)","journal-title":"Nature"},{"key":"BFnature11329_CR24","unstructured":"Genome Reference Consortium. Human Genome Overview http:\/\/www.ncbi.nlm.nih.gov\/projects\/genome\/assembly\/grc\/human\/ (2012)"},{"key":"BFnature11329_CR25","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754\u20131760 (2009)","journal-title":"Bioinformatics"},{"key":"BFnature11329_CR26","unstructured":"Ramos, A. et al. Oncotator http:\/\/www.broadinstitute.org\/oncotator\/ (2012)"},{"key":"BFnature11329_CR27","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/nbt.1754","volume":"29","author":"JT Robinson","year":"2011","unstructured":"Robinson, J. T. et al. Integrative genomics viewer. Nature Biotechnol. 29, 24\u201326 (2011)","journal-title":"Nature Biotechnol."},{"key":"BFnature11329_CR28","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1038\/cr.2009.6","volume":"19","author":"J Ren","year":"2009","unstructured":"Ren, J. et al. DOG 1.0: illustrator of protein domain structures. Cell Res. 19, 271\u2013273 (2009)","journal-title":"Cell Res."},{"key":"BFnature11329_CR29","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen, E. F. et al. UCSF Chimera\u2013a visualization system for exploratory research and analysis. J. Comput. Chem. 25, 1605\u20131612 (2004)","journal-title":"J. Comput. Chem."}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/nature11329.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/nature11329","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/nature11329.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T06:04:08Z","timestamp":1692597848000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nature11329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,22]]},"references-count":29,"journal-issue":{"issue":"7409","published-print":{"date-parts":[[2012,8,2]]}},"alternative-id":["BFnature11329"],"URL":"https:\/\/doi.org\/10.1038\/nature11329","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717962613.793496243","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.717962613.793464605","asserted-by":"object"}]},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,22]]},"assertion":[{"value":"3 February 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 June 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 July 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"M.M. is a paid consultant for and equity holder in Foundation Medicine, a genomics-based oncology diagnostics company, and is a paid consultant for Novartis. Y.-J.C. has served on an advisory board for Novartis.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}