{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T18:56:45Z","timestamp":1788375405093,"version":"build-2803163510"},"reference-count":56,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2016,8,9]],"date-time":"2016-08-09T00:00:00Z","timestamp":1470700800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Res"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1038\/cr.2016.93","type":"journal-article","created":{"date-parts":[[2016,8,9]],"date-time":"2016-08-09T10:41:41Z","timestamp":1470739301000},"page":"1048-1061","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["TALEN-based generation of a cynomolgus monkey disease model for human microcephaly"],"prefix":"10.1038","volume":"26","author":[{"given":"Qiong","family":"Ke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingqiang","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihua","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuang","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofeng","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiqing","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weijun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunhan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongdong","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinming","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengfeng","family":"Zhuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzhong","family":"Xi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank Fuxiang","family":"Mao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huimin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce T","family":"Lahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shihua","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy Peng","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,8,9]]},"reference":[{"key":"BFcr201693_CR1","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1016\/j.stem.2012.05.009","volume":"10","author":"T Nakano","year":"2012","unstructured":"Nakano T, Ando S, Takata N, et al. Self-formation of optic cups and storable stratified neural retina from human ESCs. Cell Stem Cell 2012; 10:771\u2013785.","journal-title":"Cell Stem Cell"},{"key":"BFcr201693_CR2","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1038\/nature12517","volume":"501","author":"MA Lancaster","year":"2013","unstructured":"Lancaster MA, Renner M, Martin CA, et al. Cerebral organoids model human brain development and microcephaly. Nature 2013; 501:373\u2013379.","journal-title":"Nature"},{"key":"BFcr201693_CR3","doi-asserted-by":"publisher","first-page":"31","DOI":"10.3389\/neuro.09.031.2009","volume":"3","author":"S Herculano-Houzel","year":"2009","unstructured":"Herculano-Houzel S . The human brain in numbers: a linearly scaled-up primate brain. Front Hum Neurosci 2009; 3:31.","journal-title":"Front Hum Neurosci"},{"key":"BFcr201693_CR4","doi-asserted-by":"publisher","first-page":"5607","DOI":"10.1523\/JNEUROSCI.21-15-05607.2001","volume":"21","author":"N Zecevic","year":"2001","unstructured":"Zecevic N, Rakic P . Development of layer I neurons in the primate cerebral cortex. J Neurosci 2001; 21:5607\u20135619.","journal-title":"J Neurosci"},{"key":"BFcr201693_CR5","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1038\/373523a0","volume":"373","author":"D Games","year":"1995","unstructured":"Games D, Adams D, Alessandrini R, et al. Alzheimer-type neuropathology in transgenic mice overexpressing V717F \u03b2-amyloid precursor protein. Nature 1995; 373:523\u2013527.","journal-title":"Nature"},{"key":"BFcr201693_CR6","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1111\/dgd.12109","volume":"56","author":"N Kishi","year":"2014","unstructured":"Kishi N, Sato K, Sasaki E, Okano H . Common marmoset as a new model animal for neuroscience research and genome editing technology. Dev Growth Differ 2014; 56:53\u201362.","journal-title":"Dev Growth Differ"},{"key":"BFcr201693_CR7","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1477-7827-2-39","volume":"2","author":"AW Chan","year":"2004","unstructured":"Chan AW . Transgenic nonhuman primates for neurodegenerative diseases. Reprod Biol Endocrinol 2004; 2:39.","journal-title":"Reprod Biol Endocrinol"},{"key":"BFcr201693_CR8","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.neuron.2015.03.021","volume":"86","author":"JC Belmonte","year":"2015","unstructured":"Belmonte JC, Callaway EM, Churchland P, et al. Brains, Genes, and Primates. Neuron 2015; 86:617\u2013631.","journal-title":"Neuron"},{"key":"BFcr201693_CR9","doi-asserted-by":"publisher","first-page":"92","DOI":"10.3389\/fncel.2015.00092","volume":"9","author":"JN Pulvers","year":"2015","unstructured":"Pulvers JN . MCPH1: a window into brain development and evolution. Front Cell Neurosci 2015; 9:92.","journal-title":"Front Cell Neurosci"},{"key":"BFcr201693_CR10","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1136\/archdischild-2012-302882","volume":"98","author":"CG Woods","year":"2013","unstructured":"Woods CG, Parker A . Investigating microcephaly. Arch Dis Child 2013; 98:707\u2013713.","journal-title":"Arch Dis Child"},{"key":"BFcr201693_CR11","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1086\/429930","volume":"76","author":"CG Woods","year":"2005","unstructured":"Woods CG, Bond J, Enard W . Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005; 76:717\u2013728.","journal-title":"Am J Hum Genet"},{"key":"BFcr201693_CR12","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1086\/301966","volume":"63","author":"AP Jackson","year":"1998","unstructured":"Jackson AP, McHale DP, Campbell DA, et al. Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998; 63:541\u2013546.","journal-title":"Am J Hum Genet"},{"key":"BFcr201693_CR13","doi-asserted-by":"publisher","first-page":"S4","DOI":"10.1186\/1755-8794-8-S1-S4","volume":"8 (Suppl 1)","author":"M Faheem","year":"2015","unstructured":"Faheem M, Naseer MI, Rasool M, et al. Molecular genetics of human primary microcephaly: an overview. BMC Med Genomics 2015; 8 (Suppl 1):S4.","journal-title":"BMC Med Genomics"},{"key":"BFcr201693_CR14","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.1093\/hmg\/ddh126","volume":"13","author":"PD Evans","year":"2004","unstructured":"Evans PD, Anderson JR, Vallender EJ, Choi SS, Lahn BT . Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 2004; 13:1139\u20131145.","journal-title":"Hum Mol Genet"},{"key":"BFcr201693_CR15","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1093\/hmg\/ddh127","volume":"13","author":"YQ Wang","year":"2004","unstructured":"Wang YQ, Su B . Molecular evolution of microcephalin, a gene determining human brain size. Hum Mol Genet 2004; 13:1131\u20131137.","journal-title":"Hum Mol Genet"},{"key":"BFcr201693_CR16","doi-asserted-by":"publisher","first-page":"1717","DOI":"10.1126\/science.1113722","volume":"309","author":"PD Evans","year":"2005","unstructured":"Evans PD, Gilbert SL, Mekel-Bobrov N, et al. Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 2005; 309:1717\u20131720.","journal-title":"Science"},{"key":"BFcr201693_CR17","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1086\/341283","volume":"71","author":"AP Jackson","year":"2002","unstructured":"Jackson AP, Eastwood H, Bell SM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002; 71:136\u2013142.","journal-title":"Am J Hum Genet"},{"key":"BFcr201693_CR18","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1086\/339518","volume":"70","author":"H Neitzel","year":"2002","unstructured":"Neitzel H, Neumann LM, Schindler D, et al. Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet 2002; 70:1015\u20131022.","journal-title":"Am J Hum Genet"},{"key":"BFcr201693_CR19","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1002\/humu.9382","volume":"26","author":"M Trimborn","year":"2005","unstructured":"Trimborn M, Richter R, Sternberg N, et al. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat 2005; 26:496.","journal-title":"Hum Mutat"},{"key":"BFcr201693_CR20","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1136\/jmg.2009.076398","volume":"47","author":"H Darvish","year":"2010","unstructured":"Darvish H, Esmaeeli-Nieh S, Monajemi GB, et al. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet 2010; 47:823\u2013828.","journal-title":"J Med Genet"},{"key":"BFcr201693_CR21","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/j.ejmg.2013.09.007","volume":"56","author":"RB Pfau","year":"2013","unstructured":"Pfau RB, Thrush DL, Hamelberg E, et al. MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation. Eur J Med Genet 2013; 56:609\u2013613.","journal-title":"Eur J Med Genet"},{"key":"BFcr201693_CR22","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1159\/000338975","volume":"3","author":"M Ghani-Kakhki","year":"2012","unstructured":"Ghani-Kakhki M, Robinson PN, Morlot S, et al. Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved N-terminal BRCT domain of microcephalin. Mol Syndromol 2012; 3:6\u201313.","journal-title":"Mol Syndromol"},{"key":"BFcr201693_CR23","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1086\/422855","volume":"75","author":"M Trimborn","year":"2004","unstructured":"Trimborn M, Bell SM, Felix C, et al. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 2004; 75:261\u2013266.","journal-title":"Am J Hum Genet"},{"key":"BFcr201693_CR24","doi-asserted-by":"publisher","first-page":"e58156","DOI":"10.1371\/journal.pone.0058156","volume":"8","author":"J Chen","year":"2013","unstructured":"Chen J, Ingham N, Clare S, et al. Mcph1-deficient mice reveal a role for MCPH1 in otitis media. PLoS One 2013; 8:e58156.","journal-title":"PLoS One"},{"key":"BFcr201693_CR25","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1038\/ncb2342","volume":"13","author":"R Gruber","year":"2011","unstructured":"Gruber R, Zhou Z, Sukchev M, et al. MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol 2011; 13:1325\u20131334.","journal-title":"Nat Cell Biol"},{"key":"BFcr201693_CR26","doi-asserted-by":"publisher","first-page":"e9242","DOI":"10.1371\/journal.pone.0009242","volume":"5","author":"M Trimborn","year":"2010","unstructured":"Trimborn M, Ghani M, Walther DJ, et al. Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS One 2010; 5:e9242.","journal-title":"PLoS One"},{"key":"BFcr201693_CR27","doi-asserted-by":"publisher","first-page":"e1000826","DOI":"10.1371\/journal.pgen.1000826","volume":"6","author":"Y Liang","year":"2010","unstructured":"Liang Y, Gao H, Lin S, et al. BRIT1\/MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability in mice. PLoS Genet 2010; 6:e1000826.","journal-title":"PLoS Genet"},{"key":"BFcr201693_CR28","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1038\/nature06975","volume":"453","author":"S Yang","year":"2008","unstructured":"Yang S, Cheng P, Banta H, et al. Towards a transgenic model of Huntington's disease in a non-human primate. Nature 2008; 453:921\u2013924.","journal-title":"Nature"},{"key":"BFcr201693_CR29","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1038\/nature16533","volume":"530","author":"Z Liu","year":"2016","unstructured":"Liu Z, Li X, Zhang JT, et al. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature 2016; 530:98\u2013102.","journal-title":"Nature"},{"key":"BFcr201693_CR30","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.stem.2014.01.018","volume":"14","author":"H Liu","year":"2014","unstructured":"Liu H, Chen Y, Niu Y, et al. TALEN-mediated gene mutagenesis in rhesus and cynomolgus monkeys. Cell Stem Cell 2014; 14:323\u2013328.","journal-title":"Cell Stem Cell"},{"key":"BFcr201693_CR31","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1007\/s12264-014-1434-8","volume":"30","author":"Z Liu","year":"2014","unstructured":"Liu Z, Zhou X, Zhu Y, et al. Generation of a monkey with MECP2 mutations by TALEN-based gene targeting. Neurosci Bull 2014; 30:381\u2013386.","journal-title":"Neurosci Bull"},{"key":"BFcr201693_CR32","doi-asserted-by":"publisher","first-page":"836","DOI":"10.1016\/j.cell.2014.01.027","volume":"156","author":"Y Niu","year":"2014","unstructured":"Niu Y, Shen B, Cui Y, et al. Generation of gene-modified cynomolgus monkey via Cas9\/RNA-mediated gene targeting in one-cell embryos. Cell 2014; 156:836\u2013843.","journal-title":"Cell"},{"key":"BFcr201693_CR33","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/cr.2014.158","volume":"25","author":"H Wan","year":"2014","unstructured":"Wan H, Feng C, Teng F, et al. One-step generation of p53 gene biallelic mutant cynomolgus monkey via the CRISPR\/Cas system. Cell Res 2014; 25:258\u2013261.","journal-title":"Cell Res"},{"key":"BFcr201693_CR34","doi-asserted-by":"publisher","first-page":"9283","DOI":"10.1093\/nar\/gkr597","volume":"39","author":"C Mussolino","year":"2011","unstructured":"Mussolino C, Morbitzer R, Lutge F, et al. A novel TALE nuclease scaffold enables high genome editing activity in combination with low toxicity. Nucleic Acids Res 2011; 39:9283\u20139293.","journal-title":"Nucleic Acids Res"},{"key":"BFcr201693_CR35","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1038\/nbt.1927","volume":"29","author":"D Hockemeyer","year":"2011","unstructured":"Hockemeyer D, Wang H, Kiani S, et al. Genetic engineering of human pluripotent cells using TALE nucleases. Nat Biotechnol 2011; 29:731\u2013734.","journal-title":"Nat Biotechnol"},{"key":"BFcr201693_CR36","doi-asserted-by":"publisher","first-page":"2931","DOI":"10.1093\/bioinformatics\/btt501","volume":"29","author":"J Grau","year":"2013","unstructured":"Grau J, Boch J, Posch S . TALENoffer: genome-wide TALEN off-target prediction. Bioinformatics 2013; 29:2931\u20132932.","journal-title":"Bioinformatics"},{"key":"BFcr201693_CR37","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1159\/000338975","volume":"3","author":"M Ghani-Kakhki","year":"2012","unstructured":"Ghani-Kakhki M, Robinson PN, Morlot S, et al. Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved N-terminal BRCT domain of microcephalin. Mol Syndromol 2012; 3:6\u201313.","journal-title":"Mol Syndromol"},{"key":"BFcr201693_CR38","doi-asserted-by":"publisher","first-page":"e53159","DOI":"10.1371\/journal.pone.0053159","volume":"8","author":"L Lacourpaille","year":"2013","unstructured":"Lacourpaille L, Hug F, Nordez A . Influence of passive muscle tension on electromechanical delay in humans. PLoS One 2013; 8:e53159.","journal-title":"PLoS One"},{"key":"BFcr201693_CR39","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/j.jmb.2009.11.029","volume":"395","author":"MW Richards","year":"2010","unstructured":"Richards MW, Leung JWC, Roe SM, et al. A Pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. J Mol Biol 2010; 395:908\u2013915.","journal-title":"J Mol Biol"},{"key":"BFcr201693_CR40","doi-asserted-by":"publisher","first-page":"21393","DOI":"10.1074\/jbc.M110.208793","volume":"286","author":"JW Leung","year":"2011","unstructured":"Leung JW, Leitch A, Wood JL, et al. SET nuclear oncogene associates with microcephalin\/MCPH1 and regulates chromosome condensation. J Biol Chem 2011; 286:21393\u201321400.","journal-title":"J Biol Chem"},{"key":"BFcr201693_CR41","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1016\/S0092-8674(03)00430-6","volume":"113","author":"S Lin","year":"2003","unstructured":"Lin S, Elledge SJ . Multiple tumor suppressor pathways negatively regulate telomerase. Cell 2003; 113:881\u2013889.","journal-title":"Cell"},{"key":"BFcr201693_CR42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.gene.2011.12.053","volume":"495","author":"L Shi","year":"2012","unstructured":"Shi L, Li M, Su B . MCPH1\/BRIT1 represses transcription of the human telomerase reverse transcriptase gene. Gene 2012; 495:1\u20139.","journal-title":"Gene"},{"key":"BFcr201693_CR43","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1083\/jcb.142.4.1013","volume":"142","author":"CL Rieder","year":"1998","unstructured":"Rieder CL, Cole RW . Entry into mitosis in vertebrate somatic cells is guarded by a chromosome damage checkpoint that reverses the cell cycle when triggered during early but not late prophase. J Cell Biol 1998; 142:1013\u20131022.","journal-title":"J Cell Biol"},{"key":"BFcr201693_CR44","doi-asserted-by":"publisher","first-page":"4893","DOI":"10.4161\/cc.9.24.14157","volume":"9","author":"I Gavvovidis","year":"2010","unstructured":"Gavvovidis I, Pohlmann C, Marchal JA, et al. MCPH1 patient cells exhibit delayed release from DNA damage-induced G2\/M checkpoint arrest. Cell Cycle 2010; 9:4893\u20134899.","journal-title":"Cell Cycle"},{"key":"BFcr201693_CR45","first-page":"1244","volume":"62","author":"MM Hosseini","year":"2012","unstructured":"Hosseini MM, Tonekaboni SH, Papari E, et al. A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly. J Pak Med Assoc 2012; 62:1244\u20131247.","journal-title":"J Pak Med Assoc"},{"key":"BFcr201693_CR46","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/1741-7007-11-62","volume":"11","author":"L Shi","year":"2013","unstructured":"Shi L, Li M, Lin Q, Qi X, Su B . Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans. BMC Biol 2013; 11:62.","journal-title":"BMC Biol"},{"key":"BFcr201693_CR47","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1750-1172-6-39","volume":"6","author":"S Mahmood","year":"2011","unstructured":"Mahmood S, Ahmad W, Hassan MJ . Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 2011; 6:39.","journal-title":"Orphanet J Rare Dis"},{"key":"BFcr201693_CR48","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1016\/j.dnarep.2013.04.017","volume":"12","author":"Z Zhou","year":"2013","unstructured":"Zhou Z, Tapias A, Bruhn C, et al. DNA damage response in microcephaly development of MCPH1 mouse model. DNA Repair 2013; 12:645\u2013655.","journal-title":"DNA Repair"},{"key":"BFcr201693_CR49","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.parkreldis.2013.11.004","volume":"20","author":"J Ma","year":"2014","unstructured":"Ma J, Xiong L, Chang Y, et al. Novel mutations c.[5121_5122insAG]+[6859C&gt;T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum. Parkinsonism Relat Disord 2014; 20:256\u2013259.","journal-title":"Parkinsonism Relat Disord"},{"key":"BFcr201693_CR50","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1111\/cge.12637","volume":"88","author":"G Heimer","year":"2015","unstructured":"Heimer G, Marek-Yagel D, Eyal E, et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin Genet 2015; 88:327\u2013335.","journal-title":"Clin Genet"},{"key":"BFcr201693_CR51","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1002\/ajmg.a.33234","volume":"152A","author":"M Farooq","year":"2010","unstructured":"Farooq M, Baig S, Tommerup N, Kjaer KW . Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. Am J Med Genet Part A 2010; 152A:495\u2013497.","journal-title":"Am J Med Genet Part A"},{"key":"BFcr201693_CR52","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.gene.2015.07.058","volume":"571","author":"S Ghafouri-Fard","year":"2015","unstructured":"Ghafouri-Fard S, Fardaei M, Gholami M, Miryounesi M . A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene. Gene 2015; 571:149\u2013150.","journal-title":"Gene"},{"key":"BFcr201693_CR53","doi-asserted-by":"publisher","first-page":"17663","DOI":"10.1073\/pnas.1006563107","volume":"107","author":"Y Niu","year":"2010","unstructured":"Niu Y, Yu Y, Bernat A, et al. Transgenic rhesus monkeys produced by gene transfer into early-cleavage-stage embryos using a simian immunodeficiency virus-based vector. Proc Natl Acad Sci USA 2010; 107:17663\u201317667.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFcr201693_CR54","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1002\/ajp.21017","volume":"74","author":"Y Chen","year":"2012","unstructured":"Chen Y, Niu Y, Yang S, et al. The available time window for embryo transfer in the rhesus monkey (Macaca mulatta). Am J Primatol 2012; 74:165\u2013173.","journal-title":"Am J Primatol"},{"key":"BFcr201693_CR55","doi-asserted-by":"publisher","first-page":"S208","DOI":"10.1016\/j.neuroimage.2004.07.051","volume":"23 (Suppl 1)","author":"SM Smith","year":"2004","unstructured":"Smith SM, Jenkinson M, Woolrich MW, et al. Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage 2004; 23 (Suppl 1):S208\u2013S219.","journal-title":"Neuroimage"},{"key":"BFcr201693_CR56","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1016\/j.neuroimage.2011.09.015","volume":"62","author":"M Jenkinson","year":"2012","unstructured":"Jenkinson M, Beckmann CF, Behrens TE, Woolrich MW, Smith SM . FSL. Neuroimage 2012; 62:782\u2013790.","journal-title":"Neuroimage"}],"container-title":["Cell Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/cr201693.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/cr201693","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/cr201693.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:39:01Z","timestamp":1684417141000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/cr201693"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,9]]},"references-count":56,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["BFcr201693"],"URL":"https:\/\/doi.org\/10.1038\/cr.2016.93","relation":{},"ISSN":["1001-0602","1748-7838"],"issn-type":[{"value":"1001-0602","type":"print"},{"value":"1748-7838","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,9]]},"assertion":[{"value":"9 March 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2016","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2016","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2016","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}