{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:49:37Z","timestamp":1782186577736,"version":"3.54.5"},"reference-count":94,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["K01DE027995"],"award-info":[{"award-number":["K01DE027995"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["R37DE08559"],"award-info":[{"award-number":["R37DE08559"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["U01DE020057"],"award-info":[{"award-number":["U01DE020057"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Understanding how genetic variants influence disease risk through molecular mechanisms remains a central challenge in complex disease genetics. Nonsyndromic orofacial clefts (OFCs) exemplify this challenge, with most risk loci residing in non-coding regions. We hypothesized that common genetic variants influence OFC risk by modulating DNA methylation at regulatory elements through methylation quantitative trait loci (meQTLs).\u00a0We analyzed 10 OFC-associated SNPs against genome-wide DNA methylation profiles in 409 cases and 456 controls, identifying 23 potential meQTLs. Findings were validated using 358 cleft-discordant sibling pairs with MethyLight assays. We performed formal mediation analysis, genotype-tissue interaction and cross-referenced with the mQTL Database to assess developmental timing.\u00a0Nine meQTLs were validated, including rs987525 (8q24)\u2013cg16561172 (\n                    <jats:italic>MYC<\/jats:italic>\n                    ) (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20099.6\u2009\u00d7\u200910\u207b\u2076), which mapped to a mesendoderm-active enhancer upstream of\n                    <jats:italic>MYC<\/jats:italic>\n                    . Genotype \u00d7 tissue interaction confirmed tissue-specificity (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20091.00\u2009\u00d7\u200910\n                    <jats:sup>\u2212\u20093<\/jats:sup>\n                    ), with stronger effects in oral-derived tissue (saliva). Additional validated SNP-CpG associations involved\n                    <jats:italic>MAFB<\/jats:italic>\n                    \u2013\n                    <jats:italic>PLCG1<\/jats:italic>\n                    ,\n                    <jats:italic>NOG<\/jats:italic>\n                    \u2013\n                    <jats:italic>PPM1E<\/jats:italic>\n                    ,\n                    <jats:italic>FOXE1<\/jats:italic>\n                    \u2013\n                    <jats:italic>FRZB<\/jats:italic>\n                    , and\n                    <jats:italic>SPRY2<\/jats:italic>\n                    \u2013\n                    <jats:italic>LGR4<\/jats:italic>\n                    . While effect sizes correlated between tissues (\n                    <jats:italic>r<\/jats:italic>\n                    \u2009=\u20090.81), formal mediation analysis indicated individual CpG sites do not fully mediate SNP-phenotype relationships, suggesting coordinated epigenetic mechanisms. Most associations showed peak effects during childhood, while 8q24 showed unique adult-specific patterns.\u00a0We identified genetic variants influencing methylation at craniofacial regulatory elements, and provided a mechanistic link for a major risk locus, 8q24, with tissue-specific effects in saliva. While individual CpG sites did not fully mediate the genetic risk, our findings identified specific regulatory regions where coordinated epigenetic changes may contribute to OFC susceptibility.\n                  <\/jats:p>","DOI":"10.1007\/s00438-026-02474-4","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:21:25Z","timestamp":1782184885000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology"],"prefix":"10.1007","volume":"301","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2239-8120","authenticated-orcid":false,"given":"A. L.","family":"Petrin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. A.","family":"Machado-Paula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. L.","family":"Keen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Hovey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Doolittle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Dunlay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Awotoye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X. J.","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Butali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. L.","family":"Marazita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. M.","family":"Moreno-Uribe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,23]]},"reference":[{"key":"2474_CR1","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1146\/annurev-med-111314-035900","volume":"67","author":"N Ahuja","year":"2016","unstructured":"Ahuja N, Sharma AR et al (2016) Epigenetic therapeutics: a new weapon in the war against cancer. Annu Rev Med 67:73\u201389. https:\/\/doi.org\/10.1146\/annurev-med-111314-035900","journal-title":"Annu Rev Med"},{"issue":"1","key":"2474_CR2","doi-asserted-by":"publisher","first-page":"2441","DOI":"10.1038\/s41598-017-02721-0","volume":"7","author":"L Alvizi","year":"2017","unstructured":"Alvizi L, Ke X et al (2017) Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects. Sci Rep 7(1):2441. https:\/\/doi.org\/10.1038\/s41598-017-02721-0","journal-title":"Sci Rep"},{"key":"2474_CR3","doi-asserted-by":"publisher","unstructured":"Alvizi L, Brito LA et al (2022a) mir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate. Epigenetics: 1\u201318. https:\/\/doi.org\/10.1080\/15592294.2022.2115606","DOI":"10.1080\/15592294.2022.2115606"},{"issue":"13","key":"2474_CR4","doi-asserted-by":"publisher","first-page":"2278","DOI":"10.1080\/15592294.2022.2115606","volume":"17","author":"L Alvizi","year":"2022","unstructured":"Alvizi L, Brito LA et al (2022b) mir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate. Epigenetics 17(13):2278\u20132295. https:\/\/doi.org\/10.1080\/15592294.2022.2115606","journal-title":"Epigenetics"},{"issue":"6","key":"2474_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 et al (2010) A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42(6):525\u2013529. https:\/\/doi.org\/10.1038\/ng.580","journal-title":"Nat Genet"},{"issue":"7","key":"2474_CR6","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 et al (2013) Confirming genes influencing risk to cleft lip with\/without cleft palate in a case-parent trio study. Hum Genet 132(7):771\u2013781. https:\/\/doi.org\/10.1007\/s00439-013-1283-6","journal-title":"Hum Genet"},{"issue":"3","key":"2474_CR7","doi-asserted-by":"publisher","first-page":"116","DOI":"10.1016\/j.tig.2010.12.005","volume":"27","author":"JT Bell","year":"2011","unstructured":"Bell JT, Spector TD (2011) A twin approach to unraveling epigenetics. Trends in genetics\u202f: TIG 27(3):116\u2013125. https:\/\/doi.org\/10.1016\/j.tig.2010.12.005","journal-title":"Trends in genetics : TIG"},{"issue":"1","key":"2474_CR8","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2011-12-1-r10","volume":"12","author":"JT Bell","year":"2011","unstructured":"Bell JT, Pai AA et al (2011) DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines. Genome Biol 12(1):R10. https:\/\/doi.org\/10.1186\/gb-2011-12-1-r10","journal-title":"Genome Biol"},{"issue":"1","key":"2474_CR9","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1093\/ije\/dyr179","volume":"41","author":"JT Bell","year":"2012","unstructured":"Bell JT, Saffery R (2012) The value of twins in epigenetic epidemiology. International journal of epidemiology 41(1):140\u2013150. https:\/\/doi.org\/10.1093\/ije\/dyr179","journal-title":"International journal of epidemiology"},{"issue":"10","key":"2474_CR10","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1186\/gb-2012-13-10-172","volume":"13","author":"JT Bell","year":"2012","unstructured":"Bell JT, Spector TD (2012) DNA methylation studies using twins: what are they telling us? Genome biology 13(10):172\u2013172. https:\/\/doi.org\/10.1186\/gb-2012-13-10-172","journal-title":"Genome biology"},{"issue":"4","key":"2474_CR11","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/ng.333","volume":"41","author":"S Birnbaum","year":"2009","unstructured":"Birnbaum S, Ludwig KU et al (2009) Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41(4):473\u2013477. https:\/\/doi.org\/10.1038\/ng.333","journal-title":"Nat Genet"},{"issue":"5551","key":"2474_CR12","doi-asserted-by":"publisher","first-page":"2536","DOI":"10.1126\/science.1065848","volume":"294","author":"D Bourc'his","year":"2001","unstructured":"Bourc\u2019his D, Xu GL et al (2001) Dnmt3L and the establishment of maternal genomic imprints. Science 294(5551):2536\u20132539. https:\/\/doi.org\/10.1126\/science.1065848","journal-title":"Science"},{"key":"2474_CR13","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1146\/annurev.nutr.012809.104751","volume":"30","author":"GC Burdge","year":"2010","unstructured":"Burdge GC, Lillycrop KA (2010) Nutrition, epigenetics, and developmental plasticity: implications for understanding human disease. Annu Rev Nutr 30:315\u2013339. https:\/\/doi.org\/10.1146\/annurev.nutr.012809.104751","journal-title":"Annu Rev Nutr"},{"issue":"6","key":"2474_CR14","doi-asserted-by":"publisher","first-page":"1038","DOI":"10.1093\/hmg\/ddy402","volume":"28","author":"A Butali","year":"2019","unstructured":"Butali A, Mossey PA et al (2019) Genomic analyses in African populations identify novel risk loci for cleft palate. Hum Mol Genet 28(6):1038\u20131051. https:\/\/doi.org\/10.1093\/hmg\/ddy402","journal-title":"Hum Mol Genet"},{"issue":"10","key":"2474_CR15","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 et al (2012) GWAS reveals new recessive loci associated with non-syndromic facial clefting. Eur J Med Genet 55(10):510\u2013514. https:\/\/doi.org\/10.1016\/j.ejmg.2012.06.005","journal-title":"Eur J Med Genet"},{"issue":"9","key":"2474_CR16","doi-asserted-by":"publisher","first-page":"2353","DOI":"10.1002\/dvdy.20833","volume":"235","author":"Y Chai","year":"2006","unstructured":"Chai Y, Maxson RE Jr. (2006) Recent advances in craniofacial morphogenesis. Developmental dynamics\u202f: an official publication of the American Association of Anatomists 235(9):2353\u20132375. https:\/\/doi.org\/10.1002\/dvdy.20833","journal-title":"Developmental dynamics : an official publication of the American Association of Anatomists"},{"key":"2474_CR17","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232112727","author":"C Charoenvicha","year":"2022","unstructured":"Charoenvicha C, Sirimaharaj W et al (2022) Alterations in DNA Methylation in Orofacial Clefts. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms232112727","journal-title":"Int J Mol Sci"},{"issue":"5","key":"2474_CR18","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.1016\/j.juro.2007.01.010","volume":"177","author":"S Cottrell","year":"2007","unstructured":"Cottrell S, Jung K et al (2007) Discovery and Validation of 3 Novel DNA Methylation Markers of Prostate Cancer Prognosis. J Urol 177(5):1753\u20131758. https:\/\/doi.org\/10.1016\/j.juro.2007.01.010","journal-title":"J Urol"},{"issue":"1","key":"2474_CR19","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.cell.2012.03.003","volume":"149","author":"CV Dang","year":"2012","unstructured":"Dang CV (2012) MYC on the path to cancer. Cell 149(1):22\u201335. https:\/\/doi.org\/10.1016\/j.cell.2012.03.003","journal-title":"Cell"},{"issue":"1","key":"2474_CR20","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/j.cell.2012.06.013","volume":"150","author":"MA Dawson","year":"2012","unstructured":"Dawson MA, Kouzarides T (2012) Cancer epigenetics: from mechanism to therapy. Cell 150(1):12\u201327. https:\/\/doi.org\/10.1016\/j.cell.2012.06.013","journal-title":"Cell"},{"issue":"7360","key":"2474_CR21","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1038\/nature10337","volume":"476","author":"W de Lau","year":"2011","unstructured":"de Lau W, Barker N et al (2011) Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling. Nature 476(7360):293\u2013297. https:\/\/doi.org\/10.1038\/nature10337","journal-title":"Nature"},{"issue":"8","key":"2474_CR22","doi-asserted-by":"publisher","first-page":"e32","DOI":"10.1093\/nar\/28.8.e32","volume":"28","author":"CA Eads","year":"2000","unstructured":"Eads CA, Danenberg KD et al (2000) MethyLight: a high-throughput assay to measure DNA methylation. Nucleic Acids Res 28(8):e32\u2013e00. https:\/\/doi.org\/10.1093\/nar\/28.8.e32","journal-title":"Nucleic Acids Res"},{"issue":"7143","key":"2474_CR23","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature05919","volume":"447","author":"AP Feinberg","year":"2007","unstructured":"Feinberg AP (2007) Phenotypic plasticity and the epigenetics of human disease. Nature 447(7143):433\u2013440. https:\/\/doi.org\/10.1038\/nature05919","journal-title":"Nature"},{"key":"2474_CR24","doi-asserted-by":"publisher","first-page":"bax028","DOI":"10.1093\/database\/bax028","volume":"2017","author":"S Fishilevich","year":"2017","unstructured":"Fishilevich S, Nudel R et al (2017) GeneHancer: genome-wide integration of enhancers and target genes in GeneCards. Database: J Biol databases curation 2017:bax028. https:\/\/doi.org\/10.1093\/database\/bax028","journal-title":"Database: J Biol databases curation"},{"issue":"4","key":"2474_CR25","first-page":"358","volume":"5","author":"FC Fraser","year":"1955","unstructured":"Fraser FC (1955) Thoughts on the etiology of clefts of the palate and lip. Acta Genet Stat Med 5(4):358\u2013369","journal-title":"Acta Genet Stat Med"},{"issue":"5","key":"2474_CR26","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1038\/nn.3695","volume":"17","author":"K Gapp","year":"2014","unstructured":"Gapp K, Jawaid A et al (2014) Implication of sperm RNAs in transgenerational inheritance of the effects of early trauma in mice. Nat Neurosci 17(5):667\u2013669. https:\/\/doi.org\/10.1038\/nn.3695","journal-title":"Nat Neurosci"},{"issue":"1","key":"2474_CR27","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s13059-016-0926-z","volume":"17","author":"TR Gaunt","year":"2016","unstructured":"Gaunt TR, Shihab HA et al (2016) Systematic identification of genetic influences on methylation across the human life course. Genome Biol 17(1):61. https:\/\/doi.org\/10.1186\/s13059-016-0926-z","journal-title":"Genome Biol"},{"issue":"10","key":"2474_CR28","doi-asserted-by":"publisher","first-page":"1055","DOI":"10.1038\/embor.2011.175","volume":"12","author":"A Glinka","year":"2011","unstructured":"Glinka A, Dolde C et al (2011) LGR4 and LGR5 are R-spondin receptors mediating Wnt\/\u03b2-catenin and Wnt\/PCP signalling. EMBO Rep 12(10):1055\u20131061. https:\/\/doi.org\/10.1038\/embor.2011.175","journal-title":"EMBO Rep"},{"issue":"2","key":"2474_CR29","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1080\/15592294.2019.1581591","volume":"14","author":"S Gonseth","year":"2019","unstructured":"Gonseth S, Shaw GM et al (2019) Epigenomic profiling of newborns with isolated orofacial clefts reveals widespread DNA methylation changes and implicates metastable epiallele regions in disease risk. Epigenetics 14(2):198\u2013213. https:\/\/doi.org\/10.1080\/15592294.2019.1581591","journal-title":"Epigenetics"},{"issue":"6","key":"2474_CR30","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 et al (2009) A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155(6):909\u2013913. https:\/\/doi.org\/10.1016\/j.jpeds.2009.06.020","journal-title":"J Pediatr"},{"issue":"10","key":"2474_CR31","doi-asserted-by":"publisher","first-page":"2468","DOI":"10.1002\/ajmg.a.33608","volume":"152a","author":"D Grosen","year":"2010","unstructured":"Grosen D, Bille C et al (2010) Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936\u20132004 cleft twin cohort. Am J Med Genet Part A 152a(10):2468\u20132474. https:\/\/doi.org\/10.1002\/ajmg.a.33608","journal-title":"Am J Med Genet Part A"},{"issue":"5","key":"2474_CR32","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1016\/j.ajhg.2013.10.004","volume":"93","author":"E Grundberg","year":"2013","unstructured":"Grundberg E, Meduri E et al (2013) Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet 93(5):876\u2013890. https:\/\/doi.org\/10.1016\/j.ajhg.2013.10.004","journal-title":"Am J Hum Genet"},{"issue":"1","key":"2474_CR33","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.gep.2014.12.002","volume":"17","author":"AD Halleran","year":"2015","unstructured":"Halleran AD, Sehdev M et al (2015) Characterization of tweety gene (ttyh1-3) expression in Xenopus laevis during embryonic development. Gene Expr Patterns 17(1):38\u201344. https:\/\/doi.org\/10.1016\/j.gep.2014.12.002","journal-title":"Gene Expr Patterns"},{"issue":"1","key":"2474_CR34","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.cell.2014.02.045","volume":"157","author":"E Heard","year":"2014","unstructured":"Heard E, Martienssen RA (2014) Transgenerational epigenetic inheritance: myths and mechanisms. Cell 157(1):95\u2013109. https:\/\/doi.org\/10.1016\/j.cell.2014.02.045","journal-title":"Cell"},{"issue":"44","key":"2474_CR35","doi-asserted-by":"publisher","first-page":"17046","DOI":"10.1073\/pnas.0806560105","volume":"105","author":"BT Heijmans","year":"2008","unstructured":"Heijmans BT, Tobi EW et al (2008) Persistent epigenetic differences associated with prenatal exposure to famine in humans. Proc Natl Acad Sci U S A 105(44):17046\u201317049. https:\/\/doi.org\/10.1073\/pnas.0806560105","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"2474_CR36","doi-asserted-by":"publisher","first-page":"680","DOI":"10.1016\/j.ajhg.2016.02.019","volume":"98","author":"BR Joubert","year":"2016","unstructured":"Joubert BR, Felix JF et al (2016) DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. Am J Hum Genet 98(4):680\u2013696. https:\/\/doi.org\/10.1016\/j.ajhg.2016.02.019","journal-title":"Am J Hum Genet"},{"issue":"2","key":"2474_CR37","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1210\/en.2017-00357","volume":"159","author":"I Kanazawa","year":"2018","unstructured":"Kanazawa I, Takeno A et al (2018) Osteoblast AMP-Activated Protein Kinase Regulates Postnatal Skeletal Development in Male Mice. Endocrinology 159(2):597\u2013608.","journal-title":"Endocrinology"},{"issue":"4","key":"2474_CR38","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/s1534-5807(02)00157-0","volume":"2","author":"G Karsenty","year":"2002","unstructured":"Karsenty G, Wagner EF (2002) Reaching a genetic and molecular understanding of skeletal development. Dev Cell 2(4):389\u2013406. https:\/\/doi.org\/10.1016\/s1534-5807(02)00157-0","journal-title":"Dev Cell"},{"key":"2474_CR39","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1146\/annurev.cellbio.042308.113308","volume":"25","author":"G Karsenty","year":"2009","unstructured":"Karsenty G, Kronenberg HM et al (2009) Genetic control of bone formation. Annu Rev Cell Dev Biol 25:629\u2013648. https:\/\/doi.org\/10.1146\/annurev.cellbio.042308.113308","journal-title":"Annu Rev Cell Dev Biol"},{"issue":"10","key":"2474_CR40","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1080\/15592294.2017.1370172","volume":"12","author":"E Kim","year":"2017","unstructured":"Kim E, Kwak SH et al (2017) DNA methylation profiles in sibling pairs discordant for intrauterine exposure to maternal gestational diabetes. Epigenetics 12(10):825\u2013832. https:\/\/doi.org\/10.1080\/15592294.2017.1370172","journal-title":"Epigenetics"},{"issue":"3","key":"2474_CR41","doi-asserted-by":"publisher","first-page":"291","DOI":"10.4161\/epi.7.3.19134","volume":"7","author":"SM Langevin","year":"2012","unstructured":"Langevin SM, Koestler DC et al (2012) Peripheral blood DNA methylation profiles are indicative of head and neck squamous cell carcinoma: an epigenome-wide association study. Epigenetics 7(3):291\u2013299. https:\/\/doi.org\/10.4161\/epi.7.3.19134","journal-title":"Epigenetics"},{"issue":"4","key":"2474_CR42","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 et al (2016) A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet 98(4):744\u2013754. https:\/\/doi.org\/10.1016\/j.ajhg.2016.02.014","journal-title":"Am J Hum Genet"},{"issue":"16","key":"2474_CR43","doi-asserted-by":"publisher","first-page":"26424","DOI":"10.18632\/oncotarget.15477","volume":"8","author":"ZW Li","year":"2017","unstructured":"Li ZW, Zhu YR et al (2017) microRNA-135b expression silences Ppm1e to provoke AMPK activation and inhibit osteoblastoma cell proliferation. Oncotarget 8(16):26424\u201326433. https:\/\/doi.org\/10.18632\/oncotarget.15477","journal-title":"Oncotarget"},{"issue":"1","key":"2474_CR44","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/nrm3254","volume":"13","author":"F Long","year":"2011","unstructured":"Long F (2011) Building strong bones: molecular regulation of the osteoblast lineage. Nat Rev Mol Cell Biol 13(1):27\u201338. https:\/\/doi.org\/10.1038\/nrm3254","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"2474_CR45","doi-asserted-by":"publisher","first-page":"a008334","DOI":"10.1101\/cshperspect.a008334","volume":"5","author":"F Long","year":"2013","unstructured":"Long F, Ornitz DM (2013) Development of the endochondral skeleton. Cold Spring Harb Perspect Biol 5(1):a008334. https:\/\/doi.org\/10.1101\/cshperspect.a008334","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"9","key":"2474_CR46","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1038\/ng.2360","volume":"44","author":"KU Ludwig","year":"2012","unstructured":"Ludwig KU, Mangold E et al (2012) Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet 44(9):968\u2013971. https:\/\/doi.org\/10.1038\/ng.2360","journal-title":"Nat Genet"},{"issue":"1","key":"2474_CR47","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1038\/ng.506","volume":"42","author":"E Mangold","year":"2010","unstructured":"Mangold E, Ludwig KU et al (2010) Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet 42(1):24\u201326. https:\/\/doi.org\/10.1038\/ng.506. doi ng.506 [pii]","journal-title":"Nat Genet"},{"key":"2474_CR48","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1146\/annurev-genom-090711-163729","volume":"13","author":"ML Marazita","year":"2012","unstructured":"Marazita ML (2012) The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genom Hum Genet 13:263\u2013283. https:\/\/doi.org\/10.1146\/annurev-genom-090711-163729","journal-title":"Annu Rev Genom Hum Genet"},{"issue":"5","key":"2474_CR49","doi-asserted-by":"publisher","first-page":"R73","DOI":"10.1186\/gb-2014-15-5-r73","volume":"15","author":"AF McRae","year":"2014","unstructured":"McRae AF, Powell JE et al (2014) Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biol 15(5):R73. https:\/\/doi.org\/10.1186\/gb-2014-15-5-r73","journal-title":"Genome Biol"},{"issue":"12","key":"2474_CR50","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1038\/nrc2231","volume":"8","author":"N Meyer","year":"2008","unstructured":"Meyer N, Penn LZ (2008) Reflecting on 25 years with MYC. Nat Rev Cancer 8(12):976\u2013990. https:\/\/doi.org\/10.1038\/nrc2231","journal-title":"Nat Rev Cancer"},{"issue":"24","key":"2474_CR51","doi-asserted-by":"publisher","first-page":"4879","DOI":"10.1093\/hmg\/ddp444","volume":"18","author":"LM Moreno","year":"2009","unstructured":"Moreno LM, Mansilla MA et al (2009) FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. Hum Mol Genet 18(24):4879\u20134896. https:\/\/doi.org\/10.1093\/hmg\/ddp444","journal-title":"Hum Mol Genet"},{"issue":"11","key":"2474_CR52","doi-asserted-by":"publisher","first-page":"1322","DOI":"10.1177\/0022034517716914","volume":"96","author":"LM Moreno Uribe","year":"2017","unstructured":"Moreno Uribe LM, Fomina T et al (2017) A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts. J Dent Res 96(11):1322\u20131329. https:\/\/doi.org\/10.1177\/0022034517716914","journal-title":"J Dent Res"},{"issue":"1","key":"2474_CR53","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.cell.2016.06.028","volume":"166","author":"MA Nieto","year":"2016","unstructured":"Nieto MA, Huang RY et al (2016) EMT: 2016. Cell 166(1):21\u201345. https:\/\/doi.org\/10.1016\/j.cell.2016.06.028","journal-title":"Cell"},{"key":"2474_CR54","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-4-82","volume":"4","author":"JH Park","year":"2011","unstructured":"Park JH, Park J et al (2011) Identification of DNA methylation changes associated with human gastric cancer. BMC Med Genomics 4:82. https:\/\/doi.org\/10.1186\/1755-8794-4-82","journal-title":"BMC Med Genomics"},{"key":"2474_CR55","doi-asserted-by":"publisher","DOI":"10.3389\/fdmed.2023.1120948","author":"AL Petrin","year":"2023","unstructured":"Petrin AL, Zeng E et al (2023) DNA methylation differences in monozygotic twins with Van der Woude syndrome. Front Dent Med. https:\/\/doi.org\/10.3389\/fdmed.2023.1120948","journal-title":"Front Dent Med"},{"issue":"1","key":"2474_CR56","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1597\/10-178","volume":"49","author":"F Rahimov","year":"2012","unstructured":"Rahimov F, Jugessur A et al (2012) Genetics of nonsyndromic orofacial clefts. Cleft Palate Craniofac J 49(1):73\u201391.","journal-title":"Cleft Palate Craniofac J"},{"issue":"10","key":"2474_CR57","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1000356","volume":"7","author":"CL Relton","year":"2010","unstructured":"Relton CL, Davey Smith G (2010) Epigenetic Epidemiology of Common Complex Disease: Prospects for Prediction, Prevention, and Treatment. PLoS Med 7(10):e1000356. https:\/\/doi.org\/10.1371\/journal.pmed.1000356","journal-title":"PLoS Med"},{"issue":"1","key":"2474_CR58","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1093\/ije\/dyr233","volume":"41","author":"CL Relton","year":"2012","unstructured":"Relton CL, Davey Smith G (2012) Two-step epigenetic Mendelian randomization: a strategy for establishing the causal role of epigenetic processes in pathways to disease. Int J Epidemiol 41(1):161\u2013176. https:\/\/doi.org\/10.1093\/ije\/dyr233","journal-title":"Int J Epidemiol"},{"issue":"1","key":"2474_CR59","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-020-00881-x","volume":"12","author":"J Romanowska","year":"2020","unstructured":"Romanowska J, Haaland \u00d8A et al (2020) Gene\u2013methylation interactions: discovering region-wise DNA methylation levels that modify SNP-associated disease risk. Clin Epigenetics 12(1):109. https:\/\/doi.org\/10.1186\/s13148-020-00881-x","journal-title":"Clin Epigenetics"},{"issue":"2","key":"2474_CR60","doi-asserted-by":"publisher","first-page":"152","DOI":"10.5507\/bp.2017.009","volume":"161","author":"J Salagovic","year":"2017","unstructured":"Salagovic J, Klimcakova L et al (2017) Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 161(2):152\u2013157. https:\/\/doi.org\/10.5507\/bp.2017.009","journal-title":"Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub"},{"issue":"10","key":"2474_CR61","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1038\/nrn1221","volume":"4","author":"F Santagati","year":"2003","unstructured":"Santagati F, Rijli FM (2003) Cranial neural crest and the building of the vertebrate head. Nat Rev Neurosci 4(10):806\u2013818. https:\/\/doi.org\/10.1038\/nrn1221","journal-title":"Nat Rev Neurosci"},{"issue":"1","key":"2474_CR62","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1111\/j.0006-341x.2002.00163.x","volume":"58","author":"JM Satagopan","year":"2002","unstructured":"Satagopan JM, Verbel DA et al (2002) Two-stage designs for gene-disease association studies. Biometrics 58(1):163\u2013170. https:\/\/doi.org\/10.1111\/j.0006-341x.2002.00163.x","journal-title":"Biometrics"},{"issue":"7","key":"2474_CR63","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1038\/nrm2428","volume":"9","author":"T Sauka-Spengler","year":"2008","unstructured":"Sauka-Spengler T, Bronner-Fraser M (2008) A gene regulatory network orchestrates neural crest formation. Nat Rev Mol Cell Biol 9(7):557\u2013568. https:\/\/doi.org\/10.1038\/nrm2428","journal-title":"Nat Rev Mol Cell Biol"},{"key":"2474_CR64","doi-asserted-by":"publisher","DOI":"10.1177\/10556656241269495","author":"A Seaberg","year":"2024","unstructured":"Seaberg A, Awotoye W et al (2024) DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability. Cleft Palate Craniofac J. https:\/\/doi.org\/10.1177\/10556656241269495","journal-title":"Cleft Palate Craniofac J"},{"issue":"10","key":"2474_CR65","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1093\/bioinformatics\/bts163","volume":"28","author":"AA Shabalin","year":"2012","unstructured":"Shabalin AA (2012) Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Bioinformatics 28(10):1353\u20131358. https:\/\/doi.org\/10.1093\/bioinformatics\/bts163","journal-title":"Bioinformatics"},{"issue":"1","key":"2474_CR66","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/carcin\/bgp220","volume":"31","author":"S Sharma","year":"2010","unstructured":"Sharma S, Kelly TK et al (2010) Epigenetics in cancer. Carcinogenesis 31(1):27\u201336. https:\/\/doi.org\/10.1093\/carcin\/bgp220","journal-title":"Carcinogenesis"},{"key":"2474_CR67","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-017-0362-2","volume":"9","author":"GC Sharp","year":"2017","unstructured":"Sharp GC, Ho K et al (2017) Distinct DNA methylation profiles in subtypes of orofacial cleft. Clin Epigenetics 9:63. https:\/\/doi.org\/10.1186\/s13148-017-0362-2","journal-title":"Clin Epigenetics"},{"key":"2474_CR68","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2018.4369","author":"X Shu","year":"2018","unstructured":"Shu X, Shu S et al (2018) Genome-Wide DNA Methylation Profile of Gene cis-Acting Element Methylations in All-trans Retinoic Acid-Induced Mouse Cleft Palate. DNA Cell Biol. https:\/\/doi.org\/10.1089\/dna.2018.4369","journal-title":"DNA Cell Biol"},{"issue":"6020","key":"2474_CR69","doi-asserted-by":"publisher","first-page":"1036","DOI":"10.1126\/science.1195380","volume":"331","author":"J Song","year":"2011","unstructured":"Song J, Rechkoblit O et al (2011) Structure of DNMT1-DNA complex reveals a role for autoinhibition in maintenance DNA methylation. Science 331(6020):1036\u20131040. https:\/\/doi.org\/10.1126\/science.1195380","journal-title":"Science"},{"issue":"1","key":"2474_CR70","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/j.ydbio.2007.11.005","volume":"314","author":"SM Sperber","year":"2008","unstructured":"Sperber SM, Saxena V et al (2008) Zebrafish dlx2a contributes to hindbrain neural crest survival, is necessary for differentiation of sensory ganglia and functions with dlx1a in maturation of the arch cartilage elements. Dev Biol 314(1):59\u201370. https:\/\/doi.org\/10.1016\/j.ydbio.2007.11.005","journal-title":"Dev Biol"},{"key":"2474_CR71","doi-asserted-by":"publisher","first-page":"6414","DOI":"10.1038\/ncomms7414","volume":"6","author":"Y Sun","year":"2015","unstructured":"Sun Y, Huang Y et al (2015) Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat Commun 6:6414. https:\/\/doi.org\/10.1038\/ncomms7414","journal-title":"Nat Commun"},{"issue":"21","key":"2474_CR72","doi-asserted-by":"publisher","first-page":"22461","DOI":"10.1074\/jbc.M313813200","volume":"279","author":"M Suzuki","year":"2004","unstructured":"Suzuki M, Mizuno A (2004) A Novel Human Cl- Channel Family Related to Drosophila flightless Locus*. J Biol Chem 279(21):22461\u201322468. https:\/\/doi.org\/10.1074\/jbc.M313813200","journal-title":"J Biol Chem"},{"issue":"5","key":"2474_CR73","doi-asserted-by":"publisher","first-page":"1292","DOI":"10.1016\/j.jaci.2023.06.020","volume":"152","author":"P Tao","year":"2023","unstructured":"Tao P, Han X et al (2023) A gain-of-function variation in PLCG1 causes a new immune dysregulation disease. J Allergy Clin Immunol 152(5):1292\u20131302. https:\/\/doi.org\/10.1016\/j.jaci.2023.06.020","journal-title":"J Allergy Clin Immunol"},{"issue":"4","key":"2474_CR74","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1101\/gr.103606.109","volume":"20","author":"AE Teschendorff","year":"2010","unstructured":"Teschendorff AE, Menon U et al (2010) Age-dependent DNA methylation of genes that are suppressed in stem cells is a hallmark of cancer. Genome Res 20(4):440\u2013446. https:\/\/doi.org\/10.1101\/gr.103606.109","journal-title":"Genome Res"},{"issue":"1","key":"2474_CR75","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.ydbio.2011.12.041","volume":"366","author":"E Theveneau","year":"2012","unstructured":"Theveneau E, Mayor R (2012) Neural crest delamination and migration: from epithelium-to-mesenchyme transition to collective cell migration. Dev Biol 366(1):34\u201354. https:\/\/doi.org\/10.1016\/j.ydbio.2011.12.041","journal-title":"Dev Biol"},{"issue":"5","key":"2474_CR76","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1016\/j.cell.2009.11.007","volume":"139","author":"JP Thiery","year":"2009","unstructured":"Thiery JP, Acloque H et al (2009) Epithelial-mesenchymal transitions in development and disease. Cell 139(5):871\u2013890. https:\/\/doi.org\/10.1016\/j.cell.2009.11.007","journal-title":"Cell"},{"issue":"5","key":"2474_CR77","doi-asserted-by":"publisher","first-page":"1","DOI":"10.18637\/jss.v059.i05","volume":"59","author":"D Tingley","year":"2014","unstructured":"Tingley D, Yamamoto T et al (2014) mediation: R Package for Causal Mediation Analysis. J Stat Softw 59(5):1\u201338. https:\/\/doi.org\/10.18637\/jss.v059.i05","journal-title":"J Stat Softw"},{"key":"2474_CR78","volume-title":"Neural Crest Cells: Evolution","author":"PA Trainor","year":"2014","unstructured":"Trainor PA (2014) Neural Crest Cells: Evolution. Development and Disease"},{"issue":"3","key":"2474_CR79","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.ajhg.2015.07.006","volume":"97","author":"SR Twigg","year":"2015","unstructured":"Twigg SR, Wilkie AO (2015) A Genetic-Pathophysiological Framework for Craniosynostosis. Am J Hum Genet 97(3):359\u2013377. https:\/\/doi.org\/10.1016\/j.ajhg.2015.07.006","journal-title":"Am J Hum Genet"},{"issue":"10","key":"2474_CR80","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.tig.2003.08.003","volume":"19","author":"EJ van den Oord","year":"2003","unstructured":"van den Oord EJ, Sullivan PF (2003) False discoveries and models for gene discovery. Trends Genet 19(10):537\u2013542. https:\/\/doi.org\/10.1016\/j.tig.2003.08.003","journal-title":"Trends Genet"},{"issue":"1","key":"2474_CR81","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1186\/1471-2164-13-636","volume":"13","author":"KR van Eijk","year":"2012","unstructured":"van Eijk KR, de Jong S et al (2012) Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects. BMC Genomics 13(1):636. https:\/\/doi.org\/10.1186\/1471-2164-13-636","journal-title":"BMC Genomics"},{"issue":"1","key":"2474_CR82","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1186\/s13059-021-02347-6","volume":"22","author":"S Villica\u00f1a","year":"2021","unstructured":"Villica\u00f1a S, Bell JT (2021) Genetic impacts on DNA methylation: research findings and future perspectives. Genome Biol 22(1):127. https:\/\/doi.org\/10.1186\/s13059-021-02347-6","journal-title":"Genome Biol"},{"issue":"1","key":"2474_CR83","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1186\/s13059-023-03011-x","volume":"24","author":"S Villica\u00f1a","year":"2023","unstructured":"Villica\u00f1a S, Castillo-Fernandez J et al (2023) Genetic impacts on DNA methylation help elucidate regulatory genomic processes. Genome Biol 24(1):176. https:\/\/doi.org\/10.1186\/s13059-023-03011-x","journal-title":"Genome Biol"},{"key":"2474_CR84","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1146\/annurev.nutr.27.061406.093705","volume":"27","author":"RA Waterland","year":"2007","unstructured":"Waterland RA, Michels KB (2007) Epigenetic epidemiology of the developmental origins hypothesis. Annu Rev Nutr 27:363\u2013388. https:\/\/doi.org\/10.1146\/annurev.nutr.27.061406.093705","journal-title":"Annu Rev Nutr"},{"issue":"12","key":"2474_CR85","doi-asserted-by":"publisher","first-page":"e1001252","DOI":"10.1371\/journal.pgen.1001252","volume":"6","author":"RA Waterland","year":"2010","unstructured":"Waterland RA, Kellermayer R et al (2010) Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles. PLoS Genet 6(12):e1001252. https:\/\/doi.org\/10.1371\/journal.pgen.1001252","journal-title":"PLoS Genet"},{"issue":"2","key":"2474_CR86","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1038\/ng1941","volume":"39","author":"M Widschwendter","year":"2007","unstructured":"Widschwendter M, Fiegl H et al (2007) Epigenetic stem cell signature in cancer. Nat Genet 39(2):157\u2013158. https:\/\/doi.org\/10.1038\/ng1941","journal-title":"Nat Genet"},{"issue":"5","key":"2474_CR87","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1016\/j.celrep.2018.03.129","volume":"23","author":"A Wilderman","year":"2018","unstructured":"Wilderman A, VanOudenhove J et al (2018) High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development. Cell Rep 23(5):1581\u20131597. https:\/\/doi.org\/10.1016\/j.celrep.2018.03.129","journal-title":"Cell Rep"},{"issue":"3","key":"2474_CR88","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 et al (2015) Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11(3):e1005059. https:\/\/doi.org\/10.1371\/journal.pgen.1005059","journal-title":"PLoS Genet"},{"key":"2474_CR89","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.188","author":"X-J Xie","year":"2018","unstructured":"Xie X-J, Whitehurst A et al (2018) A practical efficient approach in high throughput screening: using FDR and fold change. Protocol Exchange. https:\/\/doi.org\/10.1038\/nprot.2007.188","journal-title":"Protocol Exchange"},{"issue":"1","key":"2474_CR90","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/s13148-019-0638-9","volume":"11","author":"Z Xu","year":"2019","unstructured":"Xu Z, Lie RT et al (2019) A comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts. Clin epigenetics 11(1):40. https:\/\/doi.org\/10.1186\/s13148-019-0638-9","journal-title":"Clin epigenetics"},{"issue":"1","key":"2474_CR91","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1186\/s13148-021-01207-1","volume":"13","author":"Z Xu","year":"2021","unstructured":"Xu Z, Niu L et al (2021) The ENmix DNA methylation analysis pipeline for Illumina BeadChip and comparisons with seven other preprocessing pipelines. Clin epigenetics 13(1):216. https:\/\/doi.org\/10.1186\/s13148-021-01207-1","journal-title":"Clin epigenetics"},{"issue":"1","key":"2474_CR92","doi-asserted-by":"publisher","first-page":"4623","DOI":"10.1038\/s41467-023-40363-1","volume":"14","author":"TN Yankee","year":"2023","unstructured":"Yankee TN, Oh S et al (2023) Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes. Nat Commun 14(1):4623. https:\/\/doi.org\/10.1038\/s41467-023-40363-1","journal-title":"Nat Commun"},{"key":"2474_CR93","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.656865","author":"JI Young","year":"2021","unstructured":"Young JI, Slifer S et al (2021) DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate. Front Cell Dev Biol. https:\/\/doi.org\/10.3389\/fcell.2021.656865","journal-title":"Front Cell Dev Biol"},{"issue":"2","key":"2474_CR94","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1002\/bdr2.2102","volume":"115","author":"B Zhang","year":"2023","unstructured":"Zhang B, Zhang Y et al (2023) DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole-genome bisulfite sequencing. Birth defects Res 115(2):205\u2013217. https:\/\/doi.org\/10.1002\/bdr2.2102","journal-title":"Birth defects Res"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-026-02474-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-026-02474-4","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-026-02474-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:21:30Z","timestamp":1782184890000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-026-02474-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,23]]},"references-count":94,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["2474"],"URL":"https:\/\/doi.org\/10.1007\/s00438-026-02474-4","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,23]]},"assertion":[{"value":"6 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 March 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All samples were obtained in accordance with prior study protocols, following their respective approval by the University of Iowa and local Institutional Review Boards (IRBs), and with informed consent provided by participants, parents or guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"145"}}