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Study Publications

Norway Facial Clefts Study (NCL)

Norway Facial Clefts Study (NCL)

The Norway Facial Clefts Study generated data that the Epidemiology Branch and its collaborators published in peer-reviewed journal articles. To find out more about the study, please click the following links to journal articles and abstracts.



  1. Jugessur A, Gjessing HK, Wilcox AJ, Nguyen TT, Nilsen RM, Murray JC, Lie RT. Assessing the impact of nicotine dependence genes on the risk of facial clefts: An example of the use of national registry and biobank data. Norsk Epidemiologi 21(2):241-250; 2012. [Abstract ( ]
  2. Murray T, Ruczinski I, Hetmanski JB, Scott AF, Taub M, Patel P, Zhang TX, Murray JC, Marazita ML, Munger RG, Wilcox AJ, Ye X, Wang H, Wu-Chou YH, Shi B, Chong SS, Yeow V, Lie RT, Beaty TH. 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(4):392-9; 2012. [Abstract ( ]
  3. Skare O, Jugessur A, Lie RT, Wilcox AJ, Murray JC, Lunde A, Nguyen TT, Gjessing HK. Application of a novel hybrid study design to explore gene-environment interactions in orofacial clefts. Ann Hum Genet 76(3):221-36; 2012. [Abstract ( ]
  4. Jugessur A, Skare O, Lie RT, Wilcox AJ, Christensen K, Christiansen L , Nguyen TT, Murray JC , Gjessing HK. X-linked genes and risk of orofacial clefts: evidence from two population-based studies in Scandinavia. PLoS genetics 7(6):e39240-, 2012. [Abstract ( ]
  5. Wehby G, Murray JC, Wilcox AJ, Lie RT. Smoking and body weight: evidence using genetic instruments. Econ Hum Biol 10(2):113-26; 2012. [Abstract ( ]
  6. Shi M, Murray JC, Marazita ML , Munger RG , Ruczinski I, Hentmanski JB, Wu T, Murray T, Redett RJ , Wilcox AJ, Lie RT , Jabs EW , Wu-Chou YH, Chen PK, Wang H, Ye X , Yeow V, Chong SS, Shi B, Christensen K, Scott AF, Patel P, Cheah F, Beaty TH. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. American journal of medical genetics. Part A 158A(4):784-94, 2012. [Abstract ( ]


  1. Jugessur A, Shi M, Gjessing H, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Trung Nguyen T, Christiansen L, Lidral A, Murray J. Fetal genetic risk of isolated cleft lip only (CLO) versus isolated cleft lip and palate (CLP): A sub-phenotype analysis using two population-based studies of orofacial clefts in Scandinavia. Birth Defects Research Part A: Clinical and Molecular Teratology, 91(2):85-92; 2011. [Abstract ( ]
  2. 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. Evidence for gene-environment interaction in a genome wide study of isolated, non-syndromic cleft palate. Genet Epidemiol 35(6):469-78; 2011. [Abstract ( ]
  3. Boyles AL, Ballard JL, Gorman EB, McConnaughey DR, Cabrera RM, Wilcox AJ, Lie RT, Finnell RH. Association between inhibited binding of folic acid to folate receptor {alpha} in maternal serum and folate-related birth defects in Norway. Human Reproduction 26(8):2232-2238, 2011. [Abstract ( ]
  4. Wehby G, Fletcher JM, Lehrer SF, Uribe LMM, Murray JC, Wilcox AJ, Lie RT. A Genetic instrumental variables analysis of the effects of prenatal smoking on birth weight: Evidence from two samples. Biodemog Soc Biol 57(1):3-32; 2011. [Abstract ( ]
  5. Wehby G, Wilcox AJ, Lie RT. Genes as instruments for studying risk behavior impacts: An application to maternal smoking and orofacial clefts. Health Serv Outcomes Res Methodol 11:54-78; 2011. [Abstract ( ]


  1. 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 A, 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, Doheny K, 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. A genome-wide association study of cleft lip with and without cleft palate identifies risk variant near MAFB and ABCA4. Nat Genet 42(6):525-9; 2010. [Abstract ( ]
  2. Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Murray JC. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population based cleft studies from Scandinavia. PLoS ONE  5(7):e11493. doi:10.1371/journal.pone.0011493; 2010. [Abstract ( ]
  3. Boyles AL, DeRoo LA, Lie RT, Taylor JA, Jugessur A, Murray JC, Wilcox AJ. (2010) Maternal alcohol consumption, alcohol metabolism genes and the risk of oral clefts: a population-based case-control study in Norway, 1996-2001. American Journal of Epidemiology 172(8):924-931. [Abstract ( ]


  1. Boyles AL, Wilcox AJ, Taylor JA, Shi M, Weinberg CR, Meyer K, Fredriksen Å, Ueland PM, Johansen AMW, Drevon CA, Jugessur A, Trung TN, Gjessing HK, Vollset SE, Murray JC, Christensen K, and Lie RT. (2009) Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. Genetic Epidemiology 33(3):247-255. [Abstract ( ]
  2. Shi M, Mostowska A, Jugessur A, Johnson MK, Mansilla A, Christensen K, Lie RT, Wilcox AJ, Murray JC. Identification of microdeletions in candidate genes for cleft lip and/or palate. Birth Defects Research Part A: Clinical and Molecular Teratology 85:42-51; 2009. [Abstract ( ]
  3. Jugessur A,* Shi M,* Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Trung TN, Bille C, Lidral AC and Murray JC. (2009) Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia. PLoS ONE 4(4): e5385. *co-first authored [Abstract ( ]
  4. Johansen AMW, Wilcox AJ, Lie RT, Andersen LF, Drevon CA. Maternal consumption of coffee and caffeine-containing beverages and oral clefts: A population based case-control study in Norway. Am J Epidemiol 169(10):1216-22; 2009. [Abstract ( ]
  5. Moreno LM, Mansilla MA, Bullard SA, Cooper ME, Busch TD, Machida J, Johnson MK, Brauer D, Krahn K, Daack-Hirsch S, L'heureux J, Valencia-Ramirez C, Rivera D, López 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. FOXE1 association with both isolated cleft lip with or without cleft palate and isolated cleft palate. Hum Mol Genet 18(24):4879-96; 2009. [Abstract ( ]


  1. Sivertsen A, Wilcox AJ, Johnson GE, Åbyholm FE, Vindenes HA, Lie RT. Prevalence of major anatomic variations in oral clefts. Plast Reconst Surg 121(2):587-595; 2008. [Abstract ( ]
  2. Rahimov F, Marazita ML, Visel A, Cooper ME, Hitchler MJ, Rubin 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. Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. Nature genetics 40(11):1341-1347, 2008. [Abstract ( ]
  3. Boyles AL, Wilcox AJ, Taylor JA, Meyer K, Fredriksen Å, Ueland PM, Drevon CA, and Lie RT. (2008) Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts. American Journal of Medical Genetics Part A. 146A(4):440-449. [Abstract ( ]
  4. DeRoo LA, Wilcox AJ, Drevon CA, Lie RT. First trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study. American journal of epidemiology 168(6):638-646, 2008. [Abstract ( ]
  5. Johansen AMW, Lie RT, Wilcox AJ, Andersen LF, Drevon CA. Maternal dietary intake of vitamin A and risk of orofacial clefts; a population based case-control study in Norway. American journal of epidemiology 167(10):1164-1170, 2008. [Abstract ( ]
  6. Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, Nguyen TT, Murray JC. 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. Genet Epidemiol 32:413-24; 2008.
  7. Lie RT, Wilcox AJ, Taylor J, Gjessing HK, Saugstad OD, Aabyjholm F, Vindenes H. Maternal smoking and oral clefts: The role of detoxification pathway genes. Epidemiology (Cambridge, Mass.) 19(4):606-615, 2008. [Abstract ( ]
  8. Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Aabyholm F, Harville E, Lie RT. Familial risk of oral clefts by morphological type and severity: Population based cohort study of first-degree relatives. British medical journal 336:432-434, 2008. [Abstract ( ]


  1. Sivertsen A, Lie RT, Wilcox AJ, Abyholm FE, Vindenes H,  Haukanes BI, Houge G.  Prevalence of duplications and deletions of the 22q11 DiGeorge Syndrome region in a population-based sample of infants with cleft palate. Am J Med Genet A 143A:129-34; 2007. [Abstract ( ]
  2. Wilcox AJ, Lie RT, Solvoll K, Taylor JA, McConnaughey DR, Åbyholm F, Vindenes H, Vollset SE, Drevon CA. Folic acid supplements and the risk of facial clefts: A national population-based case-control study. Brit Med J 334(7591):464-9, 2007.  [Abstract ( ]
  3. Kubon C, Sivertsen A, Vindenes HA, Abyholm F, Wilcox A, Lie RT. Completeness of registration of oral clefts in a medical birth registry: a population-based study. Acta Obstet Gynecol 86:1453-57; 2007. [Abstract ( ]
  4. Harville EW, Wilcox AJ, Lie RT, Abyholm F, Vindenes H. Epidemiology of cleft palate alone and cleft palate with accompanying defects. Eur J Epidemiol 22:389-95; 2007. Epub 2007 May 5.
  5. Nguyen RH, Wilcox AJ, Moen BE, McConnaughey DR, Lie RT. Parent's occupation and isolated orofacial clefts in Norway: a population-based case-control study. Ann Epidemiol 17:763-71; 2007. Epub 2007 Jul 30.


  1. Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, Vindenes HA, Åbyholm FE. Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: assessing gene-environment interactions in case-parent triads. Genetic Epidemiol 25:367-74; 2003. [Abstract ( ] [download the PDF ( ]
  2. Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, Vindenes H, Åbyholm F. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with facial clefts: A case-parent triad analysis. Genet Epidemiol 24:230-9; 2003. [Abstract ( ] [download the PDF ( ]
  3. Jugessur A, Wilcox AJ, Lie RT, Murray JC, Taylor J, Ulvik A, Drevon CA, Vindenes HA, Åbyholm F. Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 157:1083-91; 2003. [Abstract ( ] [Full Text ( ] [download the PDF ( ]

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