{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T17:40:50Z","timestamp":1792690850296,"version":"4.5.0"},"reference-count":67,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,6]],"date-time":"2019-12-06T00:00:00Z","timestamp":1575590400000},"content-version":"vor","delay-in-days":188,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100010221","name":"Higher Education Commission of Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010221","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000781","name":"European Research Council","doi-asserted-by":"publisher","award":["219968"],"award-info":[{"award-number":["219968"]}],"id":[{"id":"10.13039\/501100000781","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01 NS035129"],"award-info":[{"award-number":["R01 NS035129"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01 MH106826"],"award-info":[{"award-number":["R01 MH106826"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P41-GM103311"],"award-info":[{"award-number":["P41-GM103311"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2019,6]]},"DOI":"10.1016\/j.ajhg.2019.04.002","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T14:40:24Z","timestamp":1557412824000},"page":"1073-1087","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features"],"prefix":"10.1016","volume":"104","author":[{"given":"Muhammad","family":"Ansar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farid","family":"Ullah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sohail A.","family":"Paracha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darius J.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abbe","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Pais","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Iwaszkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Millan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad T.","family":"Sarwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra","family":"Agha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayyed Fahim","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azhar Ali","family":"Qaisar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Falconnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Zoete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Ranza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periklis","family":"Makrythanasis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico A.","family":"Santoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jawad","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica E.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2019.04.002_bib1","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.ceb.2010.04.008","article-title":"Linking molecular motors to membrane cargo","volume":"22","author":"Akhmanova","year":"2010","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib2","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1016\/j.tcb.2014.05.002","article-title":"Integrated regulation of motor-driven organelle transport by scaffolding proteins","volume":"24","author":"Fu","year":"2014","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib3","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.yexcr.2014.12.013","article-title":"Distinct functional roles of cytoplasmic dynein defined by the intermediate chain isoforms","volume":"334","author":"Pfister","year":"2015","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2019.04.002_bib4","doi-asserted-by":"crossref","first-page":"e11682","DOI":"10.1371\/journal.pone.0011682","article-title":"Mouse cytoplasmic dynein intermediate chains: Identification of new isoforms, alternative splicing and tissue distribution of transcripts","volume":"5","author":"Kuta","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2019.04.002_bib5","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1042\/BST20170568","article-title":"Emerging mechanisms of dynein transport in the cytoplasm versus the cilium","volume":"46","author":"Roberts","year":"2018","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.ajhg.2019.04.002_bib6","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1371\/journal.pgen.0020001","article-title":"Genetic analysis of the cytoplasmic dynein subunit families","volume":"2","author":"Pfister","year":"2006","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib7","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.neuron.2014.10.019","article-title":"Axonal transport: Cargo-specific mechanisms of motility and regulation","volume":"84","author":"Maday","year":"2014","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2019.04.002_bib8","first-page":"195","article-title":"Neuropathological hallmarks of brain malformations in extreme phenotypes related to DYNC1H1 mutations","volume":"76","author":"Laquerriere","year":"2017","journal-title":"J.\u00a0Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib9","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.ajhg.2011.07.002","article-title":"Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease","volume":"89","author":"Weedon","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib10","doi-asserted-by":"crossref","first-page":"1714","DOI":"10.1212\/WNL.0b013e3182556c05","article-title":"Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy","volume":"78","author":"Harms","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2019.04.002_bib11","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/ng.2613","article-title":"Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly","volume":"45","author":"Poirier","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib12","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1136\/jmedgenet-2011-100542","article-title":"Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects","volume":"49","author":"Willemsen","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib13","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1038\/gim.2018.8","article-title":"Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly","volume":"20","author":"Di Donato","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2019.04.002_bib14","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1186\/s13256-016-0921-8","article-title":"A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5\/6 without ectrodactyly: A case report","volume":"10","author":"Ramos-Zald\u00edvar","year":"2016","journal-title":"J.\u00a0Med. Case Reports"},{"key":"10.1016\/j.ajhg.2019.04.002_bib15","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13039-015-0139-2","article-title":"7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot\u00a0malformation with decreased penetrance","volume":"8","author":"Delgado","year":"2015","journal-title":"Mol. Cytogenet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib16","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1038\/nrm2804","article-title":"Regulators of the cytoplasmic dynein motor","volume":"10","author":"Kardon","year":"2009","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib17","doi-asserted-by":"crossref","first-page":"2640","DOI":"10.1002\/jnr.21213","article-title":"Intermediate chain subunit as a probe for cytoplasmic dynein function: Biochemical analyses and live cell imaging in PC12 cells","volume":"85","author":"Myers","year":"2007","journal-title":"J.\u00a0Neurosci. Res."},{"key":"10.1016\/j.ajhg.2019.04.002_bib18","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2019.04.002_bib19","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib20","doi-asserted-by":"crossref","first-page":"D61","DOI":"10.1093\/nar\/gkl842","article-title":"NCBI reference sequences (RefSeq): A curated non-redundant sequence database of genomes, transcripts and proteins","volume":"35","author":"Pruitt","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2019.04.002_bib21","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1002\/humu.22617","article-title":"Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families","volume":"35","author":"Makrythanasis","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2019.04.002_bib22","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/gim.2017.113","article-title":"Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay","volume":"20","author":"Ansar","year":"2018","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2019.04.002_bib23","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/hmg\/ddy180","article-title":"Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3","volume":"27","author":"Ansar","year":"2018","journal-title":"Human Molecular Genetics"},{"key":"10.1016\/j.ajhg.2019.04.002_bib24","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: A tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib25","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1186\/s12859-015-0727-5","article-title":"CATCHing putative causative variants in consanguineous families","volume":"16","author":"Santoni","year":"2015","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.ajhg.2019.04.002_bib26","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2019.04.002_bib27","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2019.04.002_bib28","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera--A visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J.\u00a0Comput. Chem."},{"key":"10.1016\/j.ajhg.2019.04.002_bib29","doi-asserted-by":"crossref","first-page":"e47394","DOI":"10.1371\/journal.pone.0047394","article-title":"Skeletogenic fate of zebrafish cranial and trunk neural crest","volume":"7","author":"Kague","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2019.04.002_bib30","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkw398","article-title":"CHOPCHOP v2: A web tool for the next generation of CRISPR genome engineering","volume":"44","author":"Labun","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2019.04.002_bib31","doi-asserted-by":"crossref","first-page":"6420","DOI":"10.1038\/srep06420","article-title":"An efficient genotyping method for genome-modified animals and human cells generated with CRISPR\/Cas9 system","volume":"4","author":"Zhu","year":"2014","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2019.04.002_bib32","first-page":"e50338","article-title":"In\u00a0vivo modeling of the morbid human genome using Danio rerio","volume":"78","author":"Niederriter","year":"2013","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2019.04.002_bib33","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1136\/jmedgenet-2016-104296","article-title":"A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis","volume":"54","author":"Frosk","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib34","doi-asserted-by":"crossref","first-page":"eaal4055","DOI":"10.1126\/scisignal.aal4055","article-title":"Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects","volume":"10","author":"Hutson","year":"2017","journal-title":"Sci. Signal."},{"key":"10.1016\/j.ajhg.2019.04.002_bib35","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.ajhg.2015.10.014","article-title":"Mutations in either TUBB or MAPRE2 cause circumferential skin creases Kunze type","volume":"97","author":"Isrie","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib36","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/ng.3743","article-title":"SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome","volume":"49","author":"Shaw","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib37","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.ajhg.2017.08.014","article-title":"Haploinsufficiency of the chromatin remodeler BPTF causes syndromic developmental and speech delay, postnatal microcephaly, and dysmorphic features","volume":"101","author":"Stankiewicz","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib38","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1534\/genetics.114.168211","article-title":"A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans","volume":"198","author":"Brooks","year":"2014","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2019.04.002_bib39","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.ajhg.2018.11.017","article-title":"Mutations in NCAPG2 cause a severe neurodevelopmental syndrome that expands the phenotypic spectrum of condensinopathies","volume":"104","author":"Khan","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib40","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2018.02.021","article-title":"Dual molecular effects of dominant RORA mutations cause two variants of syndromic intellectual disability with either autism or cerebellar ataxia","volume":"102","author":"Guissart","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib41","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1093\/hmg\/ddx305","article-title":"Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype","volume":"26","author":"Yao","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib42","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: A matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2019.04.002_bib43","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1038\/nature25462","article-title":"Cryo-EM shows how dynactin recruits two dyneins for faster movement","volume":"554","author":"Urnavicius","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2019.04.002_bib44","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1101\/gr.176925.114","article-title":"BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies","volume":"25","author":"Borck","year":"2015","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2019.04.002_bib45","article-title":"Fast release clones: A high throughput expression analysis","author":"Thisse","year":"2004","journal-title":"ZFIN direct data submission"},{"key":"10.1016\/j.ajhg.2019.04.002_bib46","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/j.ajhg.2017.02.007","article-title":"Mutations in TMEM260 cause a pediatric neurodevelopmental, cardiac, and renal syndrome","volume":"100","author":"Ta-Shma","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib47","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/j.ymeth.2015.11.021","article-title":"Tools for automating the imaging of zebrafish larvae","volume":"96","author":"Pulak","year":"2016","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2019.04.002_bib48","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/genetics\/151.4.1531","article-title":"Preservation of duplicate genes by complementary, degenerative mutations","volume":"151","author":"Force","year":"1999","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2019.04.002_bib49","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2017.01.003","article-title":"De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder","volume":"100","author":"K\u00fcry","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib50","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2014.10.006","article-title":"Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes","volume":"95","author":"Carvalho","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib51","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nature11091","article-title":"KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant","volume":"485","author":"Golzio","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2019.04.002_bib52","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1146\/annurev.cellbio.20.012103.094623","article-title":"Dynactin","volume":"20","author":"Schroer","year":"2004","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib53","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1186\/1471-2148-12-95","article-title":"Evolution of the eukaryotic dynactin complex, the activator of cytoplasmic dynein","volume":"12","author":"Hammesfahr","year":"2012","journal-title":"BMC Evol. Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib54","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1016\/S0896-6273(02)00721-3","article-title":"Dynactin is necessary for synapse stabilization","volume":"34","author":"Eaton","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2019.04.002_bib55","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1002\/mds.22950","article-title":"Perry syndrome due to the DCTN1 G71R mutation: A distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure","volume":"25","author":"Newsway","year":"2010","journal-title":"Mov. Disord."},{"key":"10.1016\/j.ajhg.2019.04.002_bib56","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/ng.293","article-title":"DCTN1 mutations in Perry syndrome","volume":"41","author":"Farrer","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib57","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/ng1123","article-title":"Mutant dynactin in motor neuron disease","volume":"33","author":"Puls","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib58","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1399-0004.2007.00888.x","article-title":"Lissencephaly and LIS1: Insights into the molecular mechanisms of neuronal migration and development","volume":"72","author":"Wynshaw-Boris","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib59","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.semcdb.2010.07.008","article-title":"Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies","volume":"21","author":"Wynshaw-Boris","year":"2010","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib60","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.ajhg.2011.04.003","article-title":"Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]","volume":"88","author":"Alkuraya","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib61","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.neuron.2004.09.023","article-title":"Mitotic spindle regulation by Nde1 controls cerebral cortical size","volume":"44","author":"Feng","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2019.04.002_bib62","doi-asserted-by":"crossref","first-page":"2690","DOI":"10.1002\/ajmg.a.38391","article-title":"A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology","volume":"173","author":"Okamoto","year":"2017","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2019.04.002_bib63","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1038\/ng.3956","article-title":"Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control","volume":"49","author":"Tessadori","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib64","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ajhg.2016.07.004","article-title":"Biallelic mutations in citron kinase link mitotic cytokinesis to human primary microcephaly","volume":"99","author":"Li","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2019.04.002_bib65","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1083\/jcb.201607022","article-title":"Centrosome and spindle assembly checkpoint loss leads to neural apoptosis and reduced brain size","volume":"216","author":"Poulton","year":"2017","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2019.04.002_bib66","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1080\/15384101.2016.1252591","article-title":"Microcephaly as a cell cycle disease","volume":"16","author":"Doobin","year":"2017","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2019.04.002_bib67","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.neuron.2015.12.007","article-title":"Prolonged mitosis of neural progenitors alters cell fate in the developing brain","volume":"89","author":"Pilaz","year":"2016","journal-title":"Neuron"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971930148X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292971930148X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,9,17]],"date-time":"2022-09-17T18:55:36Z","timestamp":1663440936000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292971930148X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6]]},"references-count":67,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["S000292971930148X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2019.04.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2019,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2019.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}