{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:16Z","timestamp":1791325996431,"version":"4.3.1"},"reference-count":58,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1387,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000097","name":"National Center for Research Resources","doi-asserted-by":"publisher","award":["5KL2RR025015"],"award-info":[{"award-number":["5KL2RR025015"]}],"id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000262","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["BR-CMM-0808-0451-RAD"],"award-info":[{"award-number":["BR-CMM-0808-0451-RAD"]}],"id":[{"id":"10.13039\/501100000262","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003246","name":"Nederlandse Organisatie voor Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["Toptalent-021.001.014"],"award-info":[{"award-number":["Toptalent-021.001.014"]}],"id":[{"id":"10.13039\/501100003246","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1016\/j.ajhg.2009.09.002","type":"journal-article","created":{"date-parts":[[2009,10,2]],"date-time":"2009-10-02T04:23:37Z","timestamp":1254457417000},"page":"465-481","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":185,"title":["OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin"],"prefix":"10.1016","volume":"85","author":[{"given":"Karlien L.M.","family":"Coene","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Doherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bushra","family":"Afroze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stef J.F.","family":"Letteboer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lock H.","family":"Ngu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bartlomiej","family":"Budny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"van Wijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas T.","family":"Gorden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malika","family":"Azhimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin-Robinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Boink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans P.M.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"van Bokhoven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan P.M.","family":"de Brouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2009.09.002_bib1","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1177\/088307389701200703","article-title":"\u201cJoubert syndrome\u201d revisited: Key ocular motor signs with magnetic resonance imaging correlation","volume":"12","author":"Maria","year":"1997","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ajhg.2009.09.002_bib2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/ajmg.a.20437","article-title":"Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes","volume":"125A","author":"Gleeson","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ajhg.2009.09.002_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ejmg.2007.11.003","article-title":"Genotypes and phenotypes of Joubert syndrome and related disorders","volume":"51","author":"Valente","year":"2008","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib4","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1136\/adc.59.8.709","article-title":"Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation","volume":"59","author":"King","year":"1984","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.ajhg.2009.09.002_bib5","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1086\/378241","article-title":"Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation","volume":"73","author":"Valente","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib6","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C","article-title":"Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: More than just variants of Joubert syndrome","volume":"86","author":"Satran","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib7","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ajmg.1320320217","article-title":"Further delineation of a syndrome of cerebellar vermis hypo\/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis","volume":"32","author":"Verloes","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib8","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<135::AID-AJMG11>3.0.CO;2-1","article-title":"OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs","volume":"91","author":"Haug","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib9","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1146\/annurev.genom.7.080505.115610","article-title":"The ciliopathies: An emerging class of human genetic disorders","volume":"7","author":"Badano","year":"2006","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib10","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1016\/j.ajhg.2008.06.023","article-title":"Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome","volume":"83","author":"Cantagrel","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib11","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/ng1419","article-title":"Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome","volume":"36","author":"Ferland","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib12","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1038\/ki.2008.377","article-title":"Jouberin localizes to collecting ducts and interacts with nephrocystin-1","volume":"74","author":"Eley","year":"2008","journal-title":"Kidney Int."},{"key":"10.1016\/j.ajhg.2009.09.002_bib13","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1086\/425985","article-title":"Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria","volume":"75","author":"Dixon-Salazar","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib14","doi-asserted-by":"crossref","first-page":"4085","DOI":"10.1242\/dev.01240","article-title":"A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney","volume":"131","author":"Sun","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2009.09.002_bib15","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.devcel.2007.03.004","article-title":"The graded response to Sonic Hedgehog depends on cilia architecture","volume":"12","author":"Caspary","year":"2007","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2009.09.002_bib16","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1016\/j.ajhg.2008.10.002","article-title":"CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290","volume":"83","author":"Gorden","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib17","doi-asserted-by":"crossref","first-page":"1032","DOI":"10.1038\/ng.423","article-title":"Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies","volume":"41","author":"Bielas","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib18","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1086\/421846","article-title":"The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome","volume":"75","author":"Parisi","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib19","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1086\/510499","article-title":"The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome","volume":"80","author":"Baala","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib20","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1038\/ng2039","article-title":"The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome","volume":"39","author":"Delous","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib21","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/ng2069","article-title":"Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome","volume":"39","author":"Arts","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib22","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1016\/j.ajhg.2008.05.004","article-title":"Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle","volume":"82","author":"Tallila","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib23","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis","volume":"79","author":"den Hollander","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib24","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1136\/jmg.2007.052027","article-title":"Mutation analysis of NPHP6\/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome","volume":"44","author":"Helou","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib25","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1086\/519494","article-title":"Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome","volume":"81","author":"Baala","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib26","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1242\/dev.003715","article-title":"Ftm is a novel basal body protein of cilia involved in Shh signalling","volume":"134","author":"Vierkotten","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2009.09.002_bib27","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1086\/318802","article-title":"Identification of the gene for oral-facial-digital type I syndrome","volume":"68","author":"Ferrante","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib28","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00439-006-0210-5","article-title":"A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome","volume":"120","author":"Budny","year":"2006","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib29","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/ng2066","article-title":"Mutations in LCA5, encoding the\u00a0ciliary protein lebercilin, cause Leber congenital amaurosis","volume":"39","author":"den Hollander","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib30","doi-asserted-by":"crossref","first-page":"6071","DOI":"10.1158\/0008-5472.CAN-05-0465","article-title":"A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays","volume":"65","author":"Nannya","year":"2005","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2009.09.002_bib31","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2009.09.002_bib32","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2009.09.002_bib33","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1006\/geno.1995.1264","article-title":"Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers","volume":"30","author":"Oetting","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2009.09.002_bib34","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.2144\/96206st01","article-title":"Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping","volume":"20","author":"Brownstein","year":"1996","journal-title":"Biotechniques"},{"issue":"Suppl 1","key":"10.1016\/j.ajhg.2009.09.002_bib35","doi-asserted-by":"crossref","first-page":"S189","DOI":"10.1093\/bioinformatics\/18.suppl_1.S189","article-title":"Exact genetic linkage computations for general pedigrees","volume":"18","author":"Fishelson","year":"2002","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2009.09.002_bib36","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1086\/301592","article-title":"Allele-sharing models: LOD scores and accurate linkage tests","volume":"61","author":"Kong","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib37","doi-asserted-by":"crossref","first-page":"3565","DOI":"10.1093\/bioinformatics\/bti571","article-title":"easyLINKAGE-Plus\u2013automated linkage analyses using large-scale SNP data","volume":"21","author":"Hoffmann","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2009.09.002_bib38","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1007\/BF02633976","article-title":"An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes","volume":"31","author":"Wall","year":"1995","journal-title":"In Vitro Cell. Dev. Biol. Anim."},{"key":"10.1016\/j.ajhg.2009.09.002_bib39","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/BF03256458","article-title":"Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts","volume":"10","author":"de Brouwer","year":"2006","journal-title":"Mol. Diagn. Ther."},{"key":"10.1016\/j.ajhg.2009.09.002_bib40","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T))","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2009.09.002_bib41","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2009.09.002_bib42","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1126\/science.252.5009.1162","article-title":"Predicting coiled coils from protein sequences","volume":"252","author":"Lupas","year":"1991","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2009.09.002_bib43","doi-asserted-by":"crossref","first-page":"18520","DOI":"10.1073\/pnas.0505774102","article-title":"Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations","volume":"102","author":"Roepman","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2009.09.002_bib44","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/ng0906-961","article-title":"The ciliary proteome database: An integrated community resource for the genetic and functional dissection of cilia","volume":"38","author":"Gherman","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib45","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1038\/nature03479","article-title":"X-inactivation profile reveals extensive variability in X-linked gene expression in females","volume":"434","author":"Carrel","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2009.09.002_bib46","doi-asserted-by":"crossref","first-page":"2556","DOI":"10.1097\/01.ASN.0000140220.46477.5C","article-title":"OFD1 is a centrosomal\/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis","volume":"15","author":"Romio","year":"2004","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2009.09.002_bib47","doi-asserted-by":"crossref","first-page":"3796","DOI":"10.1093\/hmg\/ddn277","article-title":"CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium","volume":"17","author":"Kim","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib48","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.devcel.2008.07.004","article-title":"CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease","volume":"15","author":"Tsang","year":"2008","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2009.09.002_bib49","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/jmg.2004.027672","article-title":"Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study","volume":"43","author":"Thauvin-Robinet","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib50","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1136\/jmg.39.4.292","article-title":"Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1","volume":"39","author":"Rakkolainen","year":"2002","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib51","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1038\/sj.ejhg.5201648","article-title":"Joubert syndrome (and related disorders) (OMIM 213300)","volume":"15","author":"Parisi","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib52","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/01.ASN.0000054497.48394.D2","article-title":"OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells","volume":"14","author":"Romio","year":"2003","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.ajhg.2009.09.002_bib53","doi-asserted-by":"crossref","first-page":"4397","DOI":"10.1091\/mbc.e07-03-0198","article-title":"Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex","volume":"18","author":"Giorgio","year":"2007","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2009.09.002_bib54","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/ng1684","article-title":"Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification","volume":"38","author":"Ferrante","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib55","doi-asserted-by":"crossref","first-page":"E320","DOI":"10.1002\/humu.20888","article-title":"Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing","volume":"30","author":"Thauvin-Robinet","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2009.09.002_bib56","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/S0092-8674(03)00310-6","article-title":"A global control region defines a chromosomal regulatory landscape containing the HoxD cluster","volume":"113","author":"Spitz","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2009.09.002_bib57","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1086\/302011","article-title":"Comprehensive human genetic maps: individual and sex-specific variation in recombination","volume":"63","author":"Broman","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.09.002_bib58","doi-asserted-by":"crossref","first-page":"3314","DOI":"10.1002\/ajmg.a.32032","article-title":"Oral-facial-digital syndromes: Review and diagnostic guidelines","volume":"143A","author":"Gurrieri","year":"2007","journal-title":"Am. J. Med. Genet. A"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970900398X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970900398X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:15:12Z","timestamp":1762078512000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970900398X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10]]},"references-count":58,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["S000292970900398X"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2009.09.002","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2009,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin","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.2009.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}