{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:01:30Z","timestamp":1791356490358,"version":"4.3.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2014,4,6]],"date-time":"2014-04-06T00:00:00Z","timestamp":1396742400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1038\/ng.2948","type":"journal-article","created":{"date-parts":[[2014,4,7]],"date-time":"2014-04-07T04:25:32Z","timestamp":1396844732000},"page":"510-515","source":"Crossref","is-referenced-by-count":142,"title":["De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"],"prefix":"10.1038","volume":"46","author":[{"name":"FORGE Canada Consortium","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghayda M","family":"Mirzaa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0376-7736","authenticated-orcid":false,"given":"David A","family":"Parry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E","family":"Fry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin A","family":"Giamanco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Vanstone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4323-1602","authenticated-orcid":false,"given":"Clare V","family":"Logan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin A","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shawn","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav S","family":"Kholmanskikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carissa","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca D","family":"Hodge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert F","family":"Hevner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T","family":"Bonthron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kees P J","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"St-Onge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W","family":"Gripp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M S","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sweeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"van Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke","family":"Verbeek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Steinraths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym M","family":"Boycott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela T","family":"Pilz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Elizabeth","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn G","family":"Sheridan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,4,6]]},"reference":[{"key":"BFng2948_CR1","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1038\/ng.2329","volume":"44","author":"JH Lee","year":"2012","unstructured":"Lee, J.H. et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet. 44, 941\u2013945 (2012).","journal-title":"Nat. Genet."},{"key":"BFng2948_CR2","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1038\/ng.2332","volume":"44","author":"MJ Lindhurst","year":"2012","unstructured":"Lindhurst, M.J. et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat. Genet. 44, 928\u2013933 (2012).","journal-title":"Nat. Genet."},{"key":"BFng2948_CR3","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1038\/ng.2331","volume":"44","author":"JB Rivi\u00e8re","year":"2012","unstructured":"Rivi\u00e8re, J.B. et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44, 934\u2013940 (2012).","journal-title":"Nat. Genet."},{"key":"BFng2948_CR4","doi-asserted-by":"publisher","first-page":"6630","DOI":"10.1038\/sj.onc.1210490","volume":"26","author":"A Kida","year":"2007","unstructured":"Kida, A., Kakihana, K., Kotani, S., Kurosu, T. & Miura, O. Glycogen synthase kinase-3\u03b2 and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin\/proteasome-dependent degradation in hematopoietic cells. Oncogene 26, 6630\u20136640 (2007).","journal-title":"Oncogene"},{"key":"BFng2948_CR5","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/j.neuron.2012.03.010","volume":"74","author":"A Poduri","year":"2012","unstructured":"Poduri, A. et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74, 41\u201348 (2012).","journal-title":"Neuron"},{"key":"BFng2948_CR6","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1038\/35096075","volume":"2","author":"P Cohen","year":"2001","unstructured":"Cohen, P. & Frame, S. The renaissance of GSK3. Nat. Rev. Mol. Cell Biol. 2, 769\u2013776 (2001).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFng2948_CR7","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1093\/hmg\/ddq544","volume":"20","author":"S Tokuda","year":"2011","unstructured":"Tokuda, S. et al. A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice. Hum. Mol. Genet. 20, 988\u2013999 (2011).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2948_CR8","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1038\/nrn2252","volume":"9","author":"I Bystron","year":"2008","unstructured":"Bystron, I., Blakemore, C. & Rakic, P. Development of the human cerebral cortex: Boulder Committee revisited. Nat. Rev. Neurosci. 9, 110\u2013122 (2008).","journal-title":"Nat. Rev. Neurosci."},{"issue":"suppl. 1","key":"BFng2948_CR9","doi-asserted-by":"publisher","first-page":"i152","DOI":"10.1093\/cercor\/bhk017","volume":"16","author":"V Mart\u00ednez-Cerde\u00f1o","year":"2006","unstructured":"Mart\u00ednez-Cerde\u00f1o, V., Noctor, S.C. & Kriegstein, A.R. The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex. Cereb. Cortex 16 (suppl. 1), i152\u2013i161 (2006).","journal-title":"Cereb. Cortex"},{"key":"BFng2948_CR10","doi-asserted-by":"publisher","first-page":"1817","DOI":"10.1038\/emboj.2013.96","volume":"32","author":"M Nonaka-Kinoshita","year":"2013","unstructured":"Nonaka-Kinoshita, M. et al. Regulation of cerebral cortex size and folding by expansion of basal progenitors. EMBO J. 32, 1817\u20131828 (2013).","journal-title":"EMBO J."},{"key":"BFng2948_CR11","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1159\/000109848","volume":"30","author":"A Pontious","year":"2008","unstructured":"Pontious, A., Kowalczyk, T., Englund, C. & Hevner, R.F. Role of intermediate progenitor cells in cerebral cortex development. Dev. Neurosci. 30, 24\u201332 (2008).","journal-title":"Dev. Neurosci."},{"key":"BFng2948_CR12","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1093\/cercor\/bhk008","volume":"17","author":"SB Glickstein","year":"2007","unstructured":"Glickstein, S.B., Alexander, S. & Ross, M.E. Differences in cyclin D2 and D1 protein expression distinguish forebrain progenitor subsets. Cereb. Cortex 17, 632\u2013642 (2007).","journal-title":"Cereb. Cortex"},{"key":"BFng2948_CR13","doi-asserted-by":"publisher","first-page":"4083","DOI":"10.1242\/dev.008524","volume":"134","author":"SB Glickstein","year":"2007","unstructured":"Glickstein, S.B. et al. Selective cortical interneuron and GABA deficits in cyclin D2\u2013null mice. Development 134, 4083\u20134093 (2007).","journal-title":"Development"},{"key":"BFng2948_CR14","doi-asserted-by":"publisher","first-page":"9614","DOI":"10.1523\/JNEUROSCI.2284-09.2009","volume":"29","author":"SB Glickstein","year":"2009","unstructured":"Glickstein, S.B., Monaghan, J.A., Koeller, H.B., Jones, T.K. & Ross, M.E. Cyclin D2 Is critical for intermediate progenitor cell proliferation in the embryonic cortex. J. Neurosci. 29, 9614\u20139624 (2009).","journal-title":"J. Neurosci."},{"key":"BFng2948_CR15","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.1242\/dev.126.9.1927","volume":"126","author":"JM Huard","year":"1999","unstructured":"Huard, J.M., Forster, C.C., Carter, M.L., Sicinski, P. & Ross, M.E. Cerebellar histogenesis is disturbed in mice lacking cyclin D2. Development 126, 1927\u20131935 (1999).","journal-title":"Development"},{"key":"BFng2948_CR16","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1523\/JNEUROSCI.2899-04.2005","volume":"25","author":"C Englund","year":"2005","unstructured":"Englund, C. et al. Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex. J. Neurosci. 25, 247\u2013251 (2005).","journal-title":"J. Neurosci."},{"key":"BFng2948_CR17","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1016\/j.neures.2006.03.004","volume":"55","author":"RF Hevner","year":"2006","unstructured":"Hevner, R.F., Hodge, R.D., Daza, R.A. & Englund, C. Transcription factors in glutamatergic neurogenesis: conserved programs in neocortex, cerebellum, and adult hippocampus. Neurosci. Res. 55, 223\u2013233 (2006).","journal-title":"Neurosci. Res."},{"key":"BFng2948_CR18","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1038\/ng1993","volume":"39","author":"L Baala","year":"2007","unstructured":"Baala, L. et al. Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat. Genet. 39, 454\u2013456 (2007).","journal-title":"Nat. Genet."},{"key":"BFng2948_CR19","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo, M.A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491\u2013498 (2011).","journal-title":"Nat. Genet."},{"key":"BFng2948_CR20","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297\u20131303 (2010).","journal-title":"Genome Res."},{"key":"BFng2948_CR21","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":"BFng2948_CR22","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. et al. The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25, 2078\u20132079 (2009).","journal-title":"Bioinformatics"},{"key":"BFng2948_CR23","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).","journal-title":"Nucleic Acids Res."},{"key":"BFng2948_CR24","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1038\/nmeth.2089","volume":"9","author":"CA Schneider","year":"2012","unstructured":"Schneider, C.A., Rasband, W.S. & Eliceiri, K.W. NIH Image to ImageJ: 25 years of image analysis. Nat. Methods 9, 671\u2013675 (2012).","journal-title":"Nat. Methods"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.2948.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.2948","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.2948.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:58:58Z","timestamp":1684443538000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.2948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,6]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["BFng2948"],"URL":"https:\/\/doi.org\/10.1038\/ng.2948","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,6]]}}}