{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:28:08Z","timestamp":1782221288041,"version":"3.54.5"},"reference-count":50,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1016\/j.ejmg.2012.06.005","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T16:57:58Z","timestamp":1340816278000},"page":"510-514","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"title":["GWAS reveals new recessive loci associated with non-syndromic facial clefting"],"prefix":"10.1016","volume":"55","author":[{"given":"Mauricio","family":"Camargo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Lidral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Harper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marypat","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erich","family":"Roessler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge I.","family":"V\u00e9lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel F.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Settara C.","family":"Chandrasekharappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio","family":"Arcos-Burgos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2012.06.005_bib1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1159\/000224636","article-title":"Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results","volume":"68","author":"Marazita","year":"2009","journal-title":"Hum. Hered."},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/ajmg.a.20425","article-title":"Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio","volume":"125A","author":"Moreno","year":"2004","journal-title":"Am. J.Med. Gen. Part A"},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib3","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/S0094-1298(03)00138-X","article-title":"Current concepts in the embryology and genetics of cleft lip and cleft palate","volume":"31","author":"Marazita","year":"2004","journal-title":"Clin. Plast. Surg."},{"issue":"5","key":"10.1016\/j.ejmg.2012.06.005_bib4","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1002\/gepi.1370030506","article-title":"Cleft lip with or without cleft palate: reanalysis of a three-generation family study from England","volume":"3","author":"Marazita","year":"1986","journal-title":"Genet. Epidemiol."},{"issue":"6","key":"10.1016\/j.ejmg.2012.06.005_bib5","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1086\/344779","article-title":"Multiplex relative risk and estimation of the number of loci underlying an inherited disease","volume":"71","author":"Schliekelman","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2012.06.005_bib6","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1136\/jmg.40.6.399","article-title":"Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate","volume":"40","author":"Jezewski","year":"2003","journal-title":"J.\u00a0Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2012.06.005_bib7","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1597\/04-145.1","article-title":"A\u00a0mutation in RYK is a genetic factor for nonsyndromic cleft lip and palate","volume":"43","author":"Watanabe","year":"2006","journal-title":"Cleft Palate Craniofac. J."},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib8","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/ajmg.a.20564","article-title":"Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey","volume":"126A","author":"Marazita","year":"2004","journal-title":"Am. J. Med. Gen. Part A"},{"issue":"11","key":"10.1016\/j.ejmg.2012.06.005_bib9","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1002\/ajmg.a.32295","article-title":"A\u00a0genome wide linkage scan for cleft lip and palate and dental anomalies","volume":"146A","author":"Vieira","year":"2008","journal-title":"Am. J. Med. Gen. Part A"},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib10","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1034\/j.1399-0004.2002.610401.x","article-title":"Genetics of population isolates","volume":"61","author":"Arcos-Burgos","year":"2002","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2012.06.005_bib11","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s00787-007-0605-4","article-title":"Environmental influences that affect attention deficit\/hyperactivity disorder: study of a genetic isolate","volume":"16","author":"Pineda","year":"2007","journal-title":"Eur. Child. Adolesc. Psychiatry"},{"key":"10.1016\/j.ejmg.2012.06.005_bib12","article-title":"A\u00a0cooperative interaction between LPHN3 and 11q doubles the risk for ADHD","author":"Jain","year":"2011","journal-title":"Mol. Psychiatry"},{"issue":"12","key":"10.1016\/j.ejmg.2012.06.005_bib13","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1097\/01.chi.0000142279.79805.dc","article-title":"Attention-deficit\/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families","volume":"43","author":"Palacio","year":"2004","journal-title":"J.\u00a0Am. Acad. Child Adolesc. Psychiatry"},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib14","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1007\/s004390050194","article-title":"Complex segregation analysis of non-myoclonic idiopathic generalized epilepsy in families ascertained from probands affected with idiopathic epilepsy with tonic-clonic seizures in Antioquia, Colombia","volume":"98","author":"Jimenez","year":"1996","journal-title":"Hum. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2012.06.005_bib15","first-page":"297","article-title":"Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: is the joint Amerindian and Negroid racial admixture the cause of its high prevalence?","volume":"29","author":"Jimenez","year":"1996","journal-title":"Biol. Res."},{"issue":"11","key":"10.1016\/j.ejmg.2012.06.005_bib16","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.33588\/rn.3911.2003404","article-title":"Linkage analysis of the 15q25-15q22 region in an extended multigenerational family segregating for idiopathic epilepsy","volume":"39","author":"Palacio","year":"2004","journal-title":"Rev. Neurol."},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib17","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1212\/WNL.59.2.277","article-title":"C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke","volume":"59","author":"Arboleda-Velasquez","year":"2002","journal-title":"Neurology"},{"issue":"10","key":"10.1016\/j.ejmg.2012.06.005_bib18","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1001\/jama.1997.03540340027028","article-title":"Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation","volume":"277","author":"Lopera","year":"1997","journal-title":"JAMA: J. Am. Med. Association"},{"issue":"3","key":"10.1016\/j.ejmg.2012.06.005_bib19","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/sj.mp.4001396","article-title":"Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate","volume":"9","author":"Arcos-Burgos","year":"2004","journal-title":"Mol. Psychiatry"},{"issue":"11","key":"10.1016\/j.ejmg.2012.06.005_bib20","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1038\/mp.2010.6","article-title":"A\u00a0common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication","volume":"15","author":"Arcos-Burgos","year":"2010","journal-title":"Mol. Psychiatry"},{"issue":"12","key":"10.1016\/j.ejmg.2012.06.005_bib21","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1016\/j.biopsych.2006.06.026","article-title":"Attention-deficit\/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci","volume":"61","author":"Jain","year":"2007","journal-title":"Biol. Psychiatry"},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib22","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/ajmg.b.31141","article-title":"Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility","volume":"156","author":"Domene","year":"2011","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2012.06.005_bib23","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1053\/sarh.2002.32557","article-title":"HLA-DQB1, and HLA-DRB1 polymorphism in Colombian patients with primary Sjogren's syndrome","volume":"31","author":"Anaya","year":"2002","journal-title":"Semin. Arthritis Rheum."},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib24","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/sj.gene.6363833","article-title":"Rheumatoid arthritis association in Colombian population is restricted to HLA-DRB1*04 QRRAA alleles","volume":"3","author":"Anaya","year":"2002","journal-title":"Genes Immun."},{"issue":"10","key":"10.1016\/j.ejmg.2012.06.005_bib25","first-page":"2152","article-title":"D6S439 microsatellite identifies a new susceptibility region for primary Sjogren's syndrome","volume":"30","author":"Anaya","year":"2003","journal-title":"J.\u00a0Rheumatol."},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib26","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s00439-002-0687-5","article-title":"Vitiligo: complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA","volume":"110","author":"Arcos-Burgos","year":"2002","journal-title":"Hum. Genet."},{"issue":"24","key":"10.1016\/j.ejmg.2012.06.005_bib27","doi-asserted-by":"crossref","first-page":"4879","DOI":"10.1093\/hmg\/ddp444","article-title":"FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate","volume":"18","author":"Moreno","year":"2009","journal-title":"Hum. Mol. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2012.06.005_bib28","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1056\/NEJMoa032909","article-title":"Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate","volume":"351","author":"Zucchero","year":"2004","journal-title":"N.\u00a0Engl. J. Med."},{"issue":"6","key":"10.1016\/j.ejmg.2012.06.005_bib29","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng.580","article-title":"A\u00a0genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4","volume":"42","author":"Beaty","year":"2010","journal-title":"Nat. Genet."},{"issue":"18","key":"10.1016\/j.ejmg.2012.06.005_bib30","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1093\/hmg\/ddm176","article-title":"CRISPLD2: a novel NSCLP candidate gene","volume":"16","author":"Chiquet","year":"2007","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2012.06.005_bib31","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/ng1547","article-title":"A\u00a0genome-wide scalable SNP genotyping assay using microarray technology","volume":"37","author":"Gunderson","year":"2005","journal-title":"Nat. Genetics"},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib32","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/biostatistics\/4.2.195","article-title":"A\u00a0multivariate family-based association test using generalized estimating equations: FBAT-GEE","volume":"4","author":"Lange","year":"2003","journal-title":"Biostatistics"},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib33","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1053\/jpdn.2000.8148","article-title":"Genetics of cleft lip and palate","volume":"15","author":"Bender","year":"2000","journal-title":"J.\u00a0Pediatr. Nurs."},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib34","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ajhg.2010.06.009","article-title":"A\u00a0versatile gene-based test for genome-wide association studies","volume":"87","author":"Liu","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib35","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1038\/ng.333","article-title":"Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24","volume":"41","author":"Birnbaum","year":"2009","journal-title":"Nat. Genetics"},{"issue":"6","key":"10.1016\/j.ejmg.2012.06.005_bib36","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.jpeds.2009.06.020","article-title":"A\u00a0genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24","volume":"155","author":"Grant","year":"2009","journal-title":"J.\u00a0Pediatr."},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib37","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/ng.506","article-title":"Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate","volume":"42","author":"Mangold","year":"2010","journal-title":"Nat. Genetics"},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib38","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/gepi.20492","article-title":"The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions","volume":"34","author":"Cornelis","year":"2010","journal-title":"Genet. Epidemiology"},{"issue":"11","key":"10.1016\/j.ejmg.2012.06.005_bib39","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1002\/ajmg.a.33695","article-title":"Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate","volume":"152A","author":"Klotz","year":"2010","journal-title":"Am. J. Med. Gen. Part A"},{"issue":"3","key":"10.1016\/j.ejmg.2012.06.005_bib40","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/gcc.10279","article-title":"The role of CSMD1 in head and neck carcinogenesis","volume":"38","author":"Scholnick","year":"2003","journal-title":"Genes Chromosomes Cancer"},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib41","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/gcc.10191","article-title":"The presence of multiple regions of homozygous deletion at the CSMD1 locus in oral squamous cell carcinoma question the role of CSMD1 in head and neck carcinogenesis","volume":"37","author":"Toomes","year":"2003","journal-title":"Genes Chromosomes Cancer"},{"issue":"7","key":"10.1016\/j.ejmg.2012.06.005_bib42","doi-asserted-by":"crossref","first-page":"4419","DOI":"10.4049\/jimmunol.176.7.4419","article-title":"CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues","volume":"176","author":"Kraus","year":"2006","journal-title":"J.\u00a0Immunol."},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib43","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.biopsych.2011.01.030","article-title":"The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia","volume":"70","author":"Havik","year":"2011","journal-title":"Biol. Psychiatry"},{"issue":"4","key":"10.1016\/j.ejmg.2012.06.005_bib44","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1093\/dnares\/8.4.179","article-title":"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins","volume":"8","author":"Nagase","year":"2001","journal-title":"DNA Res."},{"issue":"2","key":"10.1016\/j.ejmg.2012.06.005_bib45","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1006\/geno.2000.6152","article-title":"Cloning and chromosomal mapping of human glucuronyltransferase involved in biosynthesis of the HNK-1 carbohydrate epitope","volume":"65","author":"Mitsumoto","year":"2000","journal-title":"Genomics"},{"issue":"7","key":"10.1016\/j.ejmg.2012.06.005_bib46","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/sj.mp.4001382","article-title":"Beta-1,3-Glucuronyltransferase-1 gene implicated as a candidate for a schizophrenia-like psychosis through molecular analysis of a balanced translocation","volume":"8","author":"Jeffries","year":"2003","journal-title":"Mol. Psychiatry"},{"issue":"21","key":"10.1016\/j.ejmg.2012.06.005_bib47","doi-asserted-by":"crossref","first-page":"18282","DOI":"10.1074\/jbc.M010885200","article-title":"Characterization of a novel KRAB\/C2H2 zinc finger transcription factor involved in bone development","volume":"276","author":"Jheon","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"issue":"31","key":"10.1016\/j.ejmg.2012.06.005_bib48","doi-asserted-by":"crossref","first-page":"28799","DOI":"10.1074\/jbc.M207196200","article-title":"Identification of a novel Kruppel-associated box domain protein, Krim-1, that interacts with c-Myc and inhibits its oncogenic activity","volume":"278","author":"Hennemann","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"issue":"1","key":"10.1016\/j.ejmg.2012.06.005_bib49","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.yexcr.2004.05.030","article-title":"Characterization and chondrocyte differentiation stage-specific expression of KRAB zinc-finger protein gene ZNF470","volume":"299","author":"Hering","year":"2004","journal-title":"Exp. Cell Res."},{"issue":"9","key":"10.1016\/j.ejmg.2012.06.005_bib50","doi-asserted-by":"crossref","first-page":"7279","DOI":"10.1074\/jbc.M110.178780","article-title":"A\u00a0novel KRAB domain-containing zinc finger transcription factor ZNF431 directly represses Patched1 transcription","volume":"286","author":"He","year":"2011","journal-title":"J.\u00a0Biol. Chem."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001814?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001814?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:11Z","timestamp":1761709151000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721212001814"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":50,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S1769721212001814"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.06.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"GWAS reveals new recessive loci associated with non-syndromic facial clefting","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Masson SAS. Published by Elsevier Masson SAS All rights reserved.","name":"copyright","label":"Copyright"}]}}