{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T14:42:18Z","timestamp":1763563338534,"version":"3.41.2"},"reference-count":97,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,2,22]],"date-time":"2018-02-22T00:00:00Z","timestamp":1519257600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2018.00025","type":"journal-article","created":{"date-parts":[[2018,2,22]],"date-time":"2018-02-22T04:14:30Z","timestamp":1519272870000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2"],"prefix":"10.3389","volume":"9","author":[{"given":"\u00d8ivind","family":"Skare","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolv T.","family":"Lie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d8ystein A.","family":"Haaland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Gjerdevik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Romanowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e5kon K.","family":"Gjessing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astanand","family":"Jugessur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2018,2,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"5679","DOI":"10.1038\/s41598-017-06033-1","article-title":"Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families","volume":"7","author":"Al-Mubarak","year":"2017","journal-title":"Sci. Rep."},{"key":"B2","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1016\/j.tig.2016.03.007","article-title":"Escape artists of the X chromosome","volume":"32","author":"Balaton","year":"2016","journal-title":"Trends Genet."},{"key":"B3","doi-asserted-by":"publisher","first-page":"2800","DOI":"10.12688\/f1000research.9503.1","article-title":"Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities","volume":"5","author":"Beaty","year":"2016","journal-title":"F1000Res"},{"key":"B4","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/ng.580","article-title":"A genome-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."},{"key":"B5","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1007\/s00439-013-1283-6","article-title":"Confirming genes influencing risk to cleft lip with\/without cleft palate in a case-parent trio study","volume":"132","author":"Beaty","year":"2013","journal-title":"Hum. Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1001\/jamapediatrics.2016.1925","article-title":"Health status among adults born with an oral cleft in Norway","volume":"170","author":"Berg","year":"","journal-title":"JAMA Pediatr."},{"key":"B7","doi-asserted-by":"publisher","first-page":"e0162196","DOI":"10.1371\/journal.pone.0162196","article-title":"Socio-economic status and reproduction among adults born with an oral cleft: a population-based cohort study in Norway","volume":"11","author":"Berg","year":"","journal-title":"PLoS ONE"},{"key":"B8","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1007\/s00439-011-1011-z","article-title":"Genes that escape from X inactivation","volume":"130","author":"Berletch","year":"2011","journal-title":"Hum. Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1093\/aje\/kwi132","article-title":"Cancer risk in persons with oral cleft\u2013a population-based study of 8,093 cases","volume":"161","author":"Bille","year":"2005","journal-title":"Am. J. Epidemiol."},{"key":"B10","doi-asserted-by":"publisher","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. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/S0925-4773(00)00462-7","article-title":"MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives","volume":"98","author":"Buchner","year":"","journal-title":"Mech. Dev."},{"key":"B12","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1006\/geno.2000.6146","article-title":"Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders","volume":"65","author":"Buchner","year":"","journal-title":"Genomics"},{"key":"B13","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1016\/j.ejmg.2012.06.005","article-title":"GWAS reveals new recessive loci associated with non-syndromic facial clefting","volume":"55","author":"Camargo","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.1136\/bmj.38106.559120.7C","article-title":"Long term follow up study of survival associated with cleft lip and palate at birth","volume":"328","author":"Christensen","year":"2004","journal-title":"BMJ"},{"key":"B15","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1093\/bib\/bbu017","article-title":"Review of statistical methodologies for the detection of parent-of-origin effects in family trio genome-wide association data with binary disease traits","volume":"16","author":"Connolly","year":"2015","journal-title":"Brief. Bioinformatics"},{"key":"B16","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1038\/nrg2579","article-title":"Detecting gene-gene interactions that underlie human diseases","volume":"10","author":"Cordell","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1016\/j.cell.2014.03.052","article-title":"Protein and nucleotide biosynthesis are coupled by a single rate-limiting enzyme, PRPS2, to drive cancer","volume":"157","author":"Cunningham","year":"2014","journal-title":"Cell"},{"key":"B18","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1038\/nrg3687","article-title":"X chromosome regulation: diverse patterns in development, tissues and disease","volume":"15","author":"Deng","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1006\/geno.1995.0031","article-title":"Cloning and characterization of a novel zinc finger gene in Xp11.2","volume":"30","author":"Derry","year":"1995","journal-title":"Genomics"},{"key":"B20","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/nrg2933","article-title":"Cleft lip and palate: understanding genetic and environmental influences","volume":"12","author":"Dixon","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1002\/ajmg.1320320213","article-title":"Diagnostic criteria for Walker-Warburg syndrome","volume":"32","author":"Dobyns","year":"1989","journal-title":"Am. J. Med. Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1038\/ng1122","article-title":"Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome","volume":"33","author":"Dod\u00e9","year":"2003","journal-title":"Nat. Genet."},{"key":"B23","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.gep.2015.12.003","article-title":"Expression of FGFs during early mouse tongue development","volume":"20","author":"Du","year":"2016","journal-title":"Gene Expr. Patterns"},{"key":"B24","doi-asserted-by":"publisher","first-page":"e303","DOI":"10.1038\/tp.2013.64","article-title":"Expression of GABAA alpha2-, beta1- and epsilon-receptors are altered significantly in the lateral cerebellum of subjects with schizophrenia, major depression and bipolar disorder","volume":"3","author":"Fatemi","year":"2013","journal-title":"Transl. Psychiatry"},{"key":"B25","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1038\/nrg3032","article-title":"Genomic imprinting: the emergence of an epigenetic paradigm","volume":"12","author":"Ferguson-Smith","year":"2011","journal-title":"Nat. Rev. Genet."},{"key":"B26","doi-asserted-by":"publisher","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":"B27","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1111\/eos.12212","article-title":"Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate","volume":"123","author":"Fonseca","year":"2015","journal-title":"Eur. J. Oral Sci."},{"key":"B28","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The dystrophin complex: structure, function, and implications for therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr. Physiol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1038\/ejhg.2013.235","article-title":"Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts","volume":"22","author":"Garg","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12224","article-title":"Parent-of-origin-environment interactions in case-parent triads with or without independent controls","author":"Gjerdevik","year":"2017","journal-title":"Ann. Hum. Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1111\/j.1529-8817.2005.00218.x","article-title":"Case-parent triads: estimating single- and double-dose effects of fetal and maternal disease gene haplotypes","volume":"70","author":"Gjessing","year":"2006","journal-title":"Ann. Hum. Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1016\/j.jpeds.2009.06.020","article-title":"A genome-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. Pediatr."},{"key":"B33","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1136\/jmg.2009.069385","article-title":"A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance","volume":"47","author":"Grosen","year":"2010","journal-title":"J. Med. Genet."},{"key":"B34","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1111\/j.1399-0004.2011.01790.x","article-title":"Parent of origin effects","volume":"81","author":"Guilmatre","year":"2012","journal-title":"Clin. Genet."},{"key":"B35","doi-asserted-by":"publisher","first-page":"e0184358","DOI":"10.1371\/journal.pone.0184358","article-title":"Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): an application to European and Asian cleft palate trios","volume":"12","author":"Haaland","year":"2017","journal-title":"PLoS ONE"},{"key":"B36","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/mp.2014.193","article-title":"X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes","volume":"21","author":"Hu","year":"2016","journal-title":"Mol. Psychiatry"},{"key":"B37","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1111\/j.1601-0825.2009.01577.x","article-title":"The genetics of isolated orofacial clefts: from genotypes to subphenotypes","volume":"15","author":"Jugessur","year":"","journal-title":"Oral Dis."},{"key":"B38","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1016\/j.gde.2005.03.003","article-title":"Orofacial clefting: recent insights into a complex trait","volume":"15","author":"Jugessur","year":"2005","journal-title":"Curr. Opin. Genet. Dev."},{"key":"B39","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/gepi.20314","article-title":"Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway","volume":"32","author":"Jugessur","year":"2008","journal-title":"Genet. Epidemiol."},{"key":"B40","doi-asserted-by":"publisher","first-page":"e5385","DOI":"10.1371\/journal.pone.0005385","article-title":"Genetic determinants of facial clefting: analysis of 357 candidate genes using two national cleft studies from Scandinavia","volume":"4","author":"Jugessur","year":"","journal-title":"PLoS ONE"},{"key":"B41","doi-asserted-by":"publisher","first-page":"251","DOI":"10.5324\/nje.v21i2.1503","article-title":"Using offspring-parent triads to study complex traits: a tutorial based on orofacial clefts","volume":"21","author":"Jugessur","year":"","journal-title":"Norweg. J. Epidemiol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"e39240","DOI":"10.1371\/journal.pone.0039240","article-title":"X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia","volume":"7","author":"Jugessur","year":"","journal-title":"PLoS ONE"},{"key":"B43","doi-asserted-by":"publisher","first-page":"D574","DOI":"10.1093\/nar\/gkv1209","article-title":"Ensembl Genomes 2016: more genomes, more complexity","volume":"44","author":"Kersey","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"B44","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng985","article-title":"Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes","volume":"32","author":"Kondo","year":"2002","journal-title":"Nat. Genet."},{"key":"B45","doi-asserted-by":"publisher","first-page":"3077","DOI":"10.1073\/pnas.0308532100","article-title":"The SPANX gene family of cancer\/testis-specific antigens: rapid evolution and amplification in African great apes and hominids","volume":"101","author":"Kouprina","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B46","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1002\/dvdy.24341","article-title":"Toward an orofacial gene regulatory network","volume":"245","author":"Kousa","year":"2016","journal-title":"Dev. Dyn."},{"key":"B47","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1038\/nrg3543","article-title":"Genomic imprinting and parent-of-origin effects on complex traits","volume":"14","author":"Lawson","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"B48","doi-asserted-by":"publisher","first-page":"2862","DOI":"10.1093\/hmg\/ddw104","article-title":"A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13","volume":"25","author":"Leslie","year":"","journal-title":"Hum. Mol. Genet."},{"key":"B49","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1111\/cge.12675","article-title":"IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families","volume":"90","author":"Leslie","year":"","journal-title":"Clin. Genet."},{"key":"B50","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1016\/j.ajhg.2016.02.014","article-title":"A Genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3","volume":"98","author":"Leslie","year":"","journal-title":"Am. J. Hum. Genet."},{"key":"B51","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1038\/ng.2360","article-title":"Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci","volume":"44","author":"Ludwig","year":"2012","journal-title":"Nat. Genet."},{"key":"B52","doi-asserted-by":"publisher","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. Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/j.1601-6343.2007.00386.x","article-title":"Subclinical features in non-syndromic cleft lip with or without cleft palate (CL\/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL\/P","volume":"10","author":"Marazita","year":"2007","journal-title":"Orthod. Craniofac. Res."},{"key":"B54","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1146\/annurev-genom-090711-163729","article-title":"The evolution of human genetic studies of cleft lip and cleft palate","volume":"13","author":"Marazita","year":"2012","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"B55","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1097\/WNR.0000000000000491","article-title":"Possibility of a sex-specific role for a genetic variant in FRMPD4 in schizophrenia, but not cognitive function","volume":"27","author":"Matosin","year":"2016","journal-title":"Neuroreport"},{"key":"B56","doi-asserted-by":"publisher","first-page":"15457","DOI":"10.1074\/jbc.R200031200","article-title":"Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function","volume":"278","author":"Michele","year":"2003","journal-title":"J. Biol. Chem."},{"key":"B57","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1242\/dev.103.Supplement.233","article-title":"The application of molecular genetics to detection of craniofacial abnormality","volume":"103","author":"Moore","year":"1988","journal-title":"Development"},{"key":"B58","doi-asserted-by":"publisher","first-page":"1322","DOI":"10.1177\/0022034517716914","article-title":"A population-based study of effects of genetic Loci on orofacial clefts","volume":"96","author":"Moreno Uribe","year":"2017","journal-title":"J. Dent. Res."},{"key":"B59","doi-asserted-by":"publisher","first-page":"1773","DOI":"10.1016\/S0140-6736(09)60695-4","article-title":"Cleft lip and palate","volume":"374","author":"Mossey","year":"2009","journal-title":"Lancet"},{"key":"B60","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1002\/ajmg.a.31760","article-title":"Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate","author":"Neiswanger","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"B61","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1111\/j.1601-0825.2005.01176.x","article-title":"FGF signalling in craniofacial development and developmental disorders","volume":"12","author":"Nie","year":"2006","journal-title":"Oral Dis."},{"key":"B62","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1038\/nrg2415","article-title":"Sex-specific genetic architecture of human disease","volume":"9","author":"Ober","year":"2008","journal-title":"Nat. Rev. Genet."},{"key":"B63","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1111\/eos.12025","article-title":"X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts","volume":"121","author":"Patel","year":"2013","journal-title":"Eur. J. Oral Sci."},{"key":"B64","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1002\/bies.201400032","article-title":"Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression","volume":"36","author":"Peeters","year":"2014","journal-title":"Bioessays"},{"key":"B65","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1038\/nrg3766","article-title":"The role of genomic imprinting in biology and disease: an expanding view","volume":"15","author":"Peters","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"B66","first-page":"e66","article-title":"The walker-warburg syndrome with cleft lip and palate","volume":"48","author":"Pratap","year":"2007","journal-title":"Singapore Med. J."},{"key":"B67","doi-asserted-by":"publisher","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":"B68","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/ng1197-285","article-title":"Opitz G\/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22","volume":"17","author":"Quaderi","year":"1997","journal-title":"Nat. Genet."},{"key":"B69","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1597\/10-178","article-title":"Genetics of nonsyndromic orofacial clefts","volume":"49","author":"Rahimov","year":"2012","journal-title":"Cleft Palate Craniofac. J."},{"volume-title":"R: A Language and Environment for Statistical Computing","year":"2014","key":"B70"},{"volume-title":"The Human Genome, A User's Guide, 3rd Edn","year":"2011","author":"Richards","key":"B71"},{"key":"B72","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1098\/rspb.1999.0623","article-title":"An apparent excess of sex- and reproduction-related genes on the human X chromosome","volume":"266","author":"Saifi","year":"1999","journal-title":"Proc. Biol. Sci."},{"key":"B73","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1111\/j.1600-0722.2008.00574.x","article-title":"Genes causing clefting syndromes as candidates for non-syndromic cleft lip with or without cleft palate: a family-based association study","volume":"116","author":"Scapoli","year":"2008","journal-title":"Eur. J. Oral. Sci."},{"key":"B74","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1002\/ajmg.a.35257","article-title":"Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts","author":"Shi","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"B75","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1136\/bmj.39458.563611.AE","article-title":"Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives","volume":"336","author":"Sivertsen","year":"2008","journal-title":"BMJ"},{"key":"B76","doi-asserted-by":"publisher","first-page":"e0183772","DOI":"10.1371\/journal.pone.0183772","article-title":"A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts","volume":"12","author":"Skare","year":"2017","journal-title":"PLoS ONE"},{"key":"B77","doi-asserted-by":"publisher","first-page":"9440","DOI":"10.1073\/pnas.1530509100","article-title":"Statistical significance for genomewide studies","volume":"100","author":"Storey","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"B78","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1038\/sj.ejhg.5201335","article-title":"Possible role of USP26 in patients with severely impaired spermatogenesis","volume":"13","author":"Stouffs","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"B79","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1038\/nrg2764","article-title":"Gene\u2013environment-wide association studies: emerging approaches","volume":"11","author":"Thomas","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"B80","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/ejhg.2016.146","article-title":"Clinical exome sequencing: results from 2819 samples reflecting 1000 families","volume":"25","author":"Trujillano","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"B81","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/j.nmd.2008.05.014","article-title":"Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate","volume":"18","author":"Vajsar","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"B82","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1038\/sj.npp.1300337","article-title":"Gender-specific gene expression in post-mortem human brain: localization to sex chromosomes","volume":"29","author":"Vawter","year":"2004","journal-title":"Neuropsychopharmacology"},{"key":"B83","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1601-0825.2009.01588.x","article-title":"The impact of orofacial clefts on quality of life and healthcare use and costs","volume":"16","author":"Wehby","year":"2010","journal-title":"Oral Dis."},{"key":"B84","first-page":"785","article-title":"Academic achievement of children and adolescents with oral clefts","volume-title":"Pediatrics","author":"Wehby","year":"2014"},{"key":"B85","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/nrg3747","article-title":"Detecting epistasis in human complex traits","volume":"15","author":"Wei","year":"2014","journal-title":"Nat. Rev. Genet."},{"key":"B86","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1086\/302466","article-title":"Methods for detection of parent-of-origin effects in genetic studies of case-parents triads","volume":"65","author":"Weinberg","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"B87","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1597\/04-122R1.1","article-title":"The Pittsburgh oral-facial cleft study: expanding the cleft phenotype. Background and justification","volume":"43","author":"Weinberg","year":"2006","journal-title":"Cleft Palate Craniofac. J."},{"key":"B88","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1038\/ng0295-165","article-title":"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome","volume":"9","author":"Wilkie","year":"1995","journal-title":"Nat. Genet."},{"key":"B89","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1016\/j.ajhg.2013.03.017","article-title":"eXclusion: toward integrating the X chromosome in genome-wide association analyses","volume":"92","author":"Wise","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"B90","doi-asserted-by":"publisher","first-page":"20","DOI":"10.3389\/fgene.2016.00020","article-title":"Family-based multi-SNP X chromosome analysis using parent information","volume":"7","author":"Wise","year":"2016","journal-title":"Front. Genet."},{"key":"B91","doi-asserted-by":"publisher","first-page":"e1005059","DOI":"10.1371\/journal.pgen.1005059","article-title":"Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate","volume":"11","author":"Wolf","year":"2015","journal-title":"PLoS Genet."},{"key":"B92","doi-asserted-by":"publisher","first-page":"e98638","DOI":"10.1371\/journal.pone.0098638","article-title":"Ubiquitin specific protease 26 (USP26) expression analysis in human testicular and extragonadal tissues indicates diverse action of USP26 in cell differentiation and tumorigenesis","volume":"9","author":"Wosnitzer","year":"2014","journal-title":"PLoS ONE"},{"key":"B93","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/s00439-011-0994-9","article-title":"X-chromosome inactivation: molecular mechanisms from the human perspective","volume":"130","author":"Yang","year":"2011","journal-title":"Hum. Genet."},{"key":"B94","doi-asserted-by":"publisher","first-page":"D710","DOI":"10.1093\/nar\/gkv1157","article-title":"Ensembl 2016","volume":"44","author":"Yates","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"B95","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/andr.295","article-title":"Evidence from enzymatic and meta-analyses does not support a direct association between USP26 gene variants and male infertility","volume":"3","author":"Zhang","year":"2015","journal-title":"Andrology"},{"key":"B96","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1038\/sj.bjc.6600488","article-title":"Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark","volume":"87","author":"Zhu","year":"2002","journal-title":"Br. J. Cancer"},{"key":"B97","doi-asserted-by":"publisher","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. Engl. J. Med."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fgene.2018.00025\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,14]],"date-time":"2022-08-14T18:01:22Z","timestamp":1660500082000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fgene.2018.00025\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2,22]]},"references-count":97,"alternative-id":["10.3389\/fgene.2018.00025"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2018.00025","relation":{},"ISSN":["1664-8021"],"issn-type":[{"type":"electronic","value":"1664-8021"}],"subject":[],"published":{"date-parts":[[2018,2,22]]},"article-number":"25"}}