{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:25:31Z","timestamp":1791804331944,"version":"4.3.4"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE025060"],"award-info":[{"award-number":["DE025060"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HG007485"],"award-info":[{"award-number":["HG007485"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DE016148"],"award-info":[{"award-number":["DE016148"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2017,3]]},"DOI":"10.1007\/s00439-016-1754-7","type":"journal-article","created":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T07:15:17Z","timestamp":1483514117000},"page":"275-286","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":174,"title":["Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate"],"prefix":"10.1007","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5735-1712","authenticated-orcid":false,"given":"Elizabeth J.","family":"Leslie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna C.","family":"Carlson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Shaffer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen J.","family":"Bux\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo E.","family":"Castilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaare","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred W. B.","family":"Deleyiannis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Leigh Field","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline T.","family":"Hecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ieda M.","family":"Orioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmencita","family":"Padilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre R.","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George L.","family":"Wehby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Feingold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth M.","family":"Weinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terri H.","family":"Beaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,1,4]]},"reference":[{"key":"1754_CR1","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1038\/sj.ejhg.5200676","volume":"9","author":"J Amiel","year":"2001","unstructured":"Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T (2001) TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9:642\u2013645. doi: 10.1038\/sj.ejhg.5200676","journal-title":"Eur J Hum Genet"},{"key":"1754_CR2","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1093\/nar\/gku1396","volume":"43","author":"D Antonini","year":"2015","unstructured":"Antonini D, Sirico A, Aberdam E, Ambrosio R, Campanile C, Fagoonee S, Altruda F, Aberdam D, Brissette JL, Missero C (2015) A composite enhancer regulates p63 gene expression in epidermal morphogenesis and in keratinocyte differentiation by multiple mechanisms. Nucl Acids Res 43:862\u2013874. doi: 10.1093\/nar\/gku1396","journal-title":"Nucl Acids Res"},{"key":"1754_CR3","doi-asserted-by":"publisher","first-page":"1241006","DOI":"10.1126\/science.1241006","volume":"342","author":"C Attanasio","year":"2013","unstructured":"Attanasio C, Nord AS, Zhu Y, Blow MJ, Li Z, Liberton DK, Morrison H, Plajzer-Frick I, Holt A, Hosseini R, Phouanenavong S, Akiyama JA, Shoukry M, Afzal V, Rubin EM, FitzPatrick DR, Ren B, Hallgrimsson B, Pennacchio LA, Visel A (2013) Fine tuning of craniofacial morphology by distant-acting enhancers. Science 342:1241006. doi: 10.1126\/science.1241006","journal-title":"Science"},{"key":"1754_CR4","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1136\/jmg.26.1.49","volume":"26","author":"JS Bamforth","year":"1989","unstructured":"Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS (1989) Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 26:49\u201351","journal-title":"J Med Genet"},{"key":"1754_CR5","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/ng.580","volume":"42","author":"TH Beaty","year":"2010","unstructured":"Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42:525\u2013529. doi: 10.1038\/ng.580","journal-title":"Nat Genet"},{"key":"1754_CR6","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/gepi.20595","volume":"35","author":"TH Beaty","year":"2011","unstructured":"Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Lie RT, Jee SH, Christensen K, Doheny KF, Pugh EW, Ling H, Scott AF (2011) Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol 35:469\u2013478. doi: 10.1002\/gepi.20595","journal-title":"Genet Epidemiol"},{"key":"1754_CR7","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1007\/s00439-013-1283-6","volume":"132","author":"TH Beaty","year":"2013","unstructured":"Beaty TH, Taub MA, Scott AF, Murray JC, Marazita ML, Schwender H, Parker MM, Hetmanski JB, Balakrishnan P, Mansilla MA, Mangold E, Ludwig KU, Noethen MM, Rubini M, Elcioglu N, Ruczinski I (2013) Confirming genes influencing risk to cleft lip with\/without cleft palate in a case-parent trio study. Hum Genet 132:771\u2013781. doi: 10.1007\/s00439-013-1283-6","journal-title":"Hum Genet"},{"key":"1754_CR8","doi-asserted-by":"publisher","first-page":"2840","DOI":"10.1242\/jcs.139246","volume":"127","author":"LC Biggs","year":"2014","unstructured":"Biggs LC, Naridze RL, DeMali KA, Lusche DF, Kuhl S, Soll DR, Schutte BC, Dunnwald M (2014) Interferon regulatory factor 6 regulates keratinocyte migration. J Cell Sci 127:2840\u20132848. doi: 10.1242\/jcs.139246","journal-title":"J Cell Sci"},{"key":"1754_CR9","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/ng.333","volume":"41","author":"S Birnbaum","year":"2009","unstructured":"Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Berge SJ, Reich RH, Schiefke F, Hemprich A, Potzsch S, Steegers-Theunissen RP, Potzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nothen MM, Mangold E (2009) Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41:473\u2013477. doi: 10.1038\/ng.333","journal-title":"Nat Genet"},{"key":"1754_CR10","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/j.devcel.2010.06.008","volume":"19","author":"J Caddy","year":"2010","unstructured":"Caddy J, Wilanowski T, Darido C, Dworkin S, Ting SB, Zhao Q, Rank G, Auden A, Srivastava S, Papenfuss TA, Murdoch JN, Humbert PO, Parekh V, Boulos N, Weber T, Zuo J, Cunningham JM, Jane SM (2010) Epidermal wound repair is regulated by the planar cell polarity signaling pathway. Dev Cell 19:138\u2013147. doi: 10.1016\/j.devcel.2010.06.008","journal-title":"Dev Cell"},{"key":"1754_CR11","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1016\/j.ejmg.2012.06.005","volume":"55","author":"M Camargo","year":"2012","unstructured":"Camargo M, Rivera D, Moreno L, Lidral AC, Harper U, Jones M, Solomon BD, Roessler E, Velez JI, Martinez AF, Chandrasekharappa SC, Arcos-Burgos M (2012) GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur J Med Genet 55:510\u2013514. doi: 10.1016\/j.ejmg.2012.06.005","journal-title":"Eur J Med Genet"},{"key":"1754_CR12","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S0092-8674(00)81646-3","volume":"99","author":"J Celli","year":"1999","unstructured":"Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143\u2013153","journal-title":"Cell"},{"key":"1754_CR13","doi-asserted-by":"publisher","first-page":"W305","DOI":"10.1093\/nar\/gkp427","volume":"37","author":"J Chen","year":"2009","unstructured":"Chen J, Bardes EE, Aronow BJ, Jegga AG (2009) ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucl Acids Res 37:W305\u2013W311. doi: 10.1093\/nar\/gkp427","journal-title":"Nucl Acids Res"},{"key":"1754_CR14","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1002\/wdev.71","volume":"2","author":"AJ Copp","year":"2013","unstructured":"Copp AJ, Greene ND (2013) Neural tube defects\u2014disorders of neurulation and related embryonic processes. Wiley Interdiscip Rev Dev Biol 2:213\u2013227. doi: 10.1002\/wdev.71","journal-title":"Wiley Interdiscip Rev Dev Biol"},{"key":"1754_CR15","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1038\/1289","volume":"19","author":"M De Felice","year":"1998","unstructured":"De Felice M, Ovitt C, Biffali E, Rodriguez-Mallon A, Arra C, Anastassiadis K, Macchia PE, Mattei MG, Mariano A, Scholer H, Macchia V, Di Lauro R (1998) A mouse model for hereditary thyroid dysgenesis and cleft palate. Nat Genet 19:395\u2013398. doi: 10.1038\/1289","journal-title":"Nat Genet"},{"key":"1754_CR16","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1038\/cdd.2014.191","volume":"22","author":"P De Groote","year":"2015","unstructured":"De Groote P, Tran HT, Fransen M, Tanghe G, Urwyler C, De Craene B, Leurs K, Gilbert B, Van Imschoot G, De Rycke R, Guerin CJ, Holland P, Berx G, Vandenabeele P, Lippens S, Vleminckx K, Declercq W (2015) A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes. Cell Death Differ 22:1012\u20131024. doi: 10.1038\/cdd.2014.191","journal-title":"Cell Death Differ"},{"key":"1754_CR17","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/nrg2933","volume":"12","author":"MJ Dixon","year":"2011","unstructured":"Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167\u2013178. doi: 10.1038\/nrg2933","journal-title":"Nat Rev Genet"},{"key":"1754_CR18","doi-asserted-by":"publisher","DOI":"10.1101\/013045","author":"I Dunham","year":"2014","unstructured":"Dunham I, Kulesha E, Iotchkova V, Morganella S, Birney E (2014) FORGE: a tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions. BioRxiv. doi: 10.1101\/013045","journal-title":"BioRxiv"},{"key":"1754_CR19","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1016\/j.jpeds.2009.06.020","volume":"155","author":"SF Grant","year":"2009","unstructured":"Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H (2009) A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155:909\u2013913. doi: 10.1016\/j.jpeds.2009.06.020","journal-title":"J Pediatr"},{"key":"1754_CR20","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1086\/302972","volume":"67","author":"P Ianakiev","year":"2000","unstructured":"Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P (2000) Split-hand\/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67:59\u201366. doi: 10.1086\/302972","journal-title":"Am J Hum Genet"},{"key":"1754_CR21","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1002\/ajmg.a.36912","volume":"167","author":"Z Jia","year":"2015","unstructured":"Jia Z, Leslie EJ, Cooper ME, Butali A, Standley J, Rigdon J, Suzuki S, Gongorjav A, Shonkhuuz TE, Natsume N, Shi B, Marazita ML, Murray JC (2015) Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans. Am J Med Genet A 167:1054\u20131060. doi: 10.1002\/ajmg.a.36912","journal-title":"Am J Med Genet A"},{"key":"1754_CR22","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1002\/dvdy.20646","volume":"235","author":"R Jiang","year":"2006","unstructured":"Jiang R, Bush JO, Lidral AC (2006) Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn 235:1152\u20131166. doi: 10.1002\/dvdy.20646","journal-title":"Dev Dyn"},{"key":"1754_CR23","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1177\/154405910308200606","volume":"82","author":"PN Kantaputra","year":"2003","unstructured":"Kantaputra PN, Hamada T, Kumchai T, McGrath JA (2003) Heterozygous mutation in the SAM domain of p63 underlies Rapp and Hodgkin ectodermal dysplasia. J Dent Res 82:433\u2013437","journal-title":"J Dent Res"},{"key":"1754_CR24","unstructured":"Kousa YA, Zhu H, Kinoshita A, Fakhouri W, Dunnwald M, Roushangar RR, Williams TJ, Amendt BA, Chai Y, Finnell RH, Schutte BC (2013) Irf6 homeostasis is required for neurulation through a direct interaction with Tfap2a. In: 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA"},{"key":"1754_CR25","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1002\/humu.20515","volume":"28","author":"P Leoyklang","year":"2007","unstructured":"Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V (2007) Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28:732\u2013738. doi: 10.1002\/humu.20515","journal-title":"Hum Mutat"},{"key":"1754_CR26","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1002\/ajmg.c.31381","volume":"163C","author":"EJ Leslie","year":"2013","unstructured":"Leslie EJ, Marazita ML (2013) Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet 163C:246\u2013258. doi: 10.1002\/ajmg.c.31381","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1754_CR27","doi-asserted-by":"publisher","first-page":"934","DOI":"10.1002\/bdra.23076","volume":"94","author":"EJ Leslie","year":"2012","unstructured":"Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC (2012) Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A 94:934\u2013942. doi: 10.1002\/bdra.23076","journal-title":"Birth Defects Res A"},{"key":"1754_CR28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.004","author":"EJ Leslie","year":"2015","unstructured":"Leslie EJ, Taub MA, Liu H, Steinberg KM, Koboldt DC, Zhang Q, Carlson JC, Hetmanski JB, Wang H, Larson DE, Fulton RS, Kousa YA, Fakhouri WD, Naji A, Ruczinski I, Begum F, Parker MM, Busch T, Standley J, Rigdon J, Hecht JT, Scott AF, Wehby GL, Christensen K, Czeizel AE, Deleyiannis FW, Schutte BC, Wilson RK, Cornell RA, Lidral AC, Weinstock GM, Beaty TH, Marazita ML, Murray JC (2015) Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet. doi: 10.1016\/j.ajhg.2015.01.004","journal-title":"Am J Hum Genet"},{"key":"1754_CR29","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw104","author":"EJ Leslie","year":"2016","unstructured":"Leslie EJ, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxo CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML (2016a) 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. Hum Mol Genet. doi: 10.1093\/hmg\/ddw104","journal-title":"Hum Mol Genet"},{"key":"1754_CR30","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1016\/j.ajhg.2016.02.014","volume":"98","author":"EJ Leslie","year":"2016","unstructured":"Leslie EJ, Liu H, Carlson JC, Shaffer JR, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Standley J, Czeizel AE, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Field LL, Padilla CD, Cutiongco-de la Paz EM, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxo CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Deribew M, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Cornell RA, Murray JC, Marazita ML (2016b) A genome-wide association study of nonsyndromic cleft palate identifies an etiologic missense variant in GRHL3. Am J Hum Genet 98:744\u2013754. doi: 10.1016\/j.ajhg.2016.02.014","journal-title":"Am J Hum Genet"},{"key":"1754_CR31","doi-asserted-by":"publisher","first-page":"3895","DOI":"10.1093\/hmg\/ddv047","volume":"24","author":"AC Lidral","year":"2015","unstructured":"Lidral AC, Liu H, Bullard SA, Bonde G, Machida J, Visel A, Uribe LM, Li X, Amendt B, Cornell RA (2015) A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. Hum Mol Genet 24:3895\u20133907. doi: 10.1093\/hmg\/ddv047","journal-title":"Hum Mol Genet"},{"key":"1754_CR32","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1038\/ng.2360","volume":"44","author":"KU Ludwig","year":"2012","unstructured":"Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, Becker J, Herberz R, AlChawa T, Nasser E, Bohmer AC, Mattheisen M, Alblas MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Potzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC, Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer FJ, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M, Nothen MM (2012) Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet 44:968\u2013971. doi: 10.1038\/ng.2360","journal-title":"Nat Genet"},{"key":"1754_CR33","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1177\/0022034514523987","volume":"93","author":"KU Ludwig","year":"2014","unstructured":"Ludwig KU, Bohmer AC, Rubini M, Mossey PA, Herms S, Nowak S, Reutter H, Alblas MA, Lippke B, Barth S, Paredes-Zenteno M, Munoz-Jimenez SG, Ortiz-Lopez R, Kreusch T, Hemprich A, Martini M, Braumann B, Jager A, Potzsch B, Molloy A, Peterlin B, Hoffmann P, Nothen MM, Rojas-Martinez A, Knapp M, Steegers-Theunissen RP, Mangold E (2014) Strong association of variants around FOXE1 and orofacial clefting. J Dent Res 93:376\u2013381. doi: 10.1177\/0022034514523987","journal-title":"J Dent Res"},{"key":"1754_CR34","doi-asserted-by":"publisher","first-page":"e1005914","DOI":"10.1371\/journal.pgen.1005914","volume":"12","author":"KU Ludwig","year":"2016","unstructured":"Ludwig KU, Ahmed ST, Bohmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gultepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H (2016) Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate GREM1 as a plausible causative gene. PLoS Genet 12:e1005914. doi: 10.1371\/journal.pgen.1005914","journal-title":"PLoS Genet"},{"key":"1754_CR35","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng.506","volume":"42","author":"E Mangold","year":"2010","unstructured":"Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, Reutter H, de Assis NA, Chawa TA, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Potzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann HE, Steegers-Theunissen RP, Kramer FJ, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nothen MM (2010) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42:24\u201326. doi: 10.1038\/ng.506","journal-title":"Nat Genet"},{"key":"1754_CR36","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1016\/j.ajhg.2016.02.013","volume":"98","author":"E Mangold","year":"2016","unstructured":"Mangold E, Bohmer AC, Ishorst N, Hoebel AK, Gultepe P, Schuenke H, Klamt J, Hofmann A, Golz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jager A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nothen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU (2016) Sequencing the GRHL3 coding region reveals rare truncating mutations and a common susceptibility variant for nonsyndromic cleft palate. Am J Hum Genet 98:755\u2013762. doi: 10.1016\/j.ajhg.2016.02.013","journal-title":"Am J Hum Genet"},{"key":"1754_CR37","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1159\/000224636","volume":"68","author":"ML Marazita","year":"2009","unstructured":"Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, McHenry TG, Cooper ME, Govil M, Daack-Hirsch S, Riley B, Jugessur A, Felix T, Morene L, Mansilla MA, Vieira AR, Doheny K, Pugh E, Valencia-Ramirez C, Arcos-Burgos M (2009) 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. Hum Hered 68:151\u2013170. doi: 10.1159\/000224636","journal-title":"Hum Hered"},{"key":"1754_CR38","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1093\/hmg\/10.3.221","volume":"10","author":"JA McGrath","year":"2001","unstructured":"McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H (2001) Hay\u2013Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10:221\u2013229","journal-title":"Hum Mol Genet"},{"key":"1754_CR39","doi-asserted-by":"publisher","first-page":"4879","DOI":"10.1093\/hmg\/ddp444","volume":"18","author":"LM Moreno","year":"2009","unstructured":"Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L\u2019Heureux J, Valencia-Ramirez C, Rivera D, Lopez AM, Moreno MA, Hing A, Lammer EJ, Jones M, Christensen K, Lie RT, Jugessur A, Wilcox AJ, Chines P, Pugh E, Doheny K, Arcos-Burgos M, Marazita ML, Murray JC, Lidral AC (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet 18:4879\u20134896. doi: 10.1093\/hmg\/ddp444","journal-title":"Hum Mol Genet"},{"key":"1754_CR40","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/oso\/9780195139068.003.0012","volume-title":"Cleft lip and palate: from origin to treatment","author":"PA Mossey","year":"2002","unstructured":"Mossey PA, Little J (2002) Epidemiology of oral clefts: an international perspective. In: Wyszynski DF (ed) Cleft lip and palate: from origin to treatment. Oxford University Press, Oxford, pp 127\u2013158"},{"key":"1754_CR41","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1002\/gepi.21633","volume":"36","author":"T Murray","year":"2012","unstructured":"Murray T, Taub MA, Ruczinski I, Scott AF, Hetmanski JB, Schwender H, Patel P, Zhang TX, Munger RG, Wilcox AJ, Ye X, Wang H, Wu T, Wu-Chou YH, Shi B, Jee SH, Chong S, Yeow V, Murray JC, Marazita ML, Beaty TH (2012) Examining markers in 8q24 to explain differences in evidence for association with cleft lip with\/without cleft palate between Asians and Europeans. Genet Epidemiol 36:392\u2013399. doi: 10.1002\/gepi.21633","journal-title":"Genet Epidemiol"},{"key":"1754_CR42","doi-asserted-by":"publisher","first-page":"1341","DOI":"10.1038\/ng.242","volume":"40","author":"F Rahimov","year":"2008","unstructured":"Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubini M, Domann FE, Govil M, Christensen K, Bille C, Melbye M, Jugessur A, Lie RT, Wilcox AJ, Fitzpatrick DR, Green ED, Mossey PA, Little J, Steegers-Theunissen RP, Pennacchio LA, Schutte BC, Murray JC (2008) Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40:1341\u20131347. doi: 10.1038\/ng.242","journal-title":"Nat Genet"},{"key":"1754_CR43","doi-asserted-by":"publisher","first-page":"6414","DOI":"10.1038\/ncomms7414","volume":"6","author":"Y Sun","year":"2015","unstructured":"Sun Y, Huang Y, Yin A, Pan Y, Wang Y, Wang C, Du Y, Wang M, Lan F, Hu Z, Wang G, Jiang M, Ma J, Zhang X, Ma H, Ma J, Zhang W, Huang Q, Zhou Z, Ma L, Li Y, Jiang H, Xie L, Jiang Y, Shi B, Cheng J, Shen H, Wang L, Yang Y (2015) Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat Commun 6:6414. doi: 10.1038\/ncomms7414","journal-title":"Nat Commun"},{"key":"1754_CR44","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1086\/341450","volume":"71","author":"H van Bokhoven","year":"2002","unstructured":"van Bokhoven H, Brunner HG (2002) Splitting p63. Am J Hum Genet 71:1\u201313. doi: 10.1086\/341450","journal-title":"Am J Hum Genet"},{"key":"1754_CR45","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.ydbio.2011.09.019","volume":"360","author":"WD Wang","year":"2011","unstructured":"Wang WD, Melville DB, Montero-Balaguer M, Hatzopoulos AK, Knapik EW (2011) Tfap2a and Foxd3 regulate early steps in the development of the neural crest progenitor population. Dev Biol 360:173\u2013185. doi: 10.1016\/j.ydbio.2011.09.019","journal-title":"Dev Biol"},{"key":"1754_CR46","doi-asserted-by":"publisher","first-page":"D930","DOI":"10.1093\/nar\/gkr917","volume":"40","author":"LD Ward","year":"2012","unstructured":"Ward LD, Kellis M (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucl Acids Res 40:D930\u2013D934. doi: 10.1093\/nar\/gkr917","journal-title":"Nucl Acids Res"},{"key":"1754_CR47","doi-asserted-by":"publisher","first-page":"D877","DOI":"10.1093\/nar\/gkv1340","volume":"44","author":"LD Ward","year":"2016","unstructured":"Ward LD, Kellis M (2016) HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucl Acids Res 44:D877\u2013D881. doi: 10.1093\/nar\/gkv1340","journal-title":"Nucl Acids Res"},{"key":"1754_CR48","doi-asserted-by":"publisher","first-page":"e1005059","DOI":"10.1371\/journal.pgen.1005059","volume":"11","author":"ZT Wolf","year":"2015","unstructured":"Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL (2015) Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11:e1005059. doi: 10.1371\/journal.pgen.1005059","journal-title":"PLoS Genet"},{"key":"1754_CR49","doi-asserted-by":"publisher","first-page":"714","DOI":"10.1038\/19539","volume":"398","author":"A Yang","year":"1999","unstructured":"Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C, Sharpe A, Caput D, Crum C, McKeon F (1999) p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 398:714\u2013718. doi: 10.1038\/19539","journal-title":"Nature"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-016-1754-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-016-1754-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-016-1754-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T11:05:16Z","timestamp":1718967916000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-016-1754-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,4]]},"references-count":49,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["1754"],"URL":"https:\/\/doi.org\/10.1007\/s00439-016-1754-7","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,4]]},"assertion":[{"value":"26 August 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2016","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 January 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}