Publications

A list of papers documenting Haplin, as well as papers using Haplin.

(Not neccessarily fully updated)

Original publication

  • Gjessing HK, Lie RT. Case-parent Triads: Estimating Single-and Double-dose Effects of Fetal and Maternal Disease Gene Haplotypes. Annals of human genetics 2006; 70: 382–396. […Link…] […Link Wiley…]
Power and sample size
  • Gjerdevik M, Jugessur A, Haaland ØA, et al. Haplin power analysis: a software module for power and sample size calculations in genetic association analyses of family triads and unrelated controls. BMC Bioinformatics 2019; 20: 165. […Link…]
Gene-Environment and Gene-Methylation interactions (GxE, PoOxE, GxMe, PoOxMe)
  • Romanowska J, Haaland ØA, Jugessur A, et al. Gene-methylation interactions: Discovering region-wise DNA methylation levels that modify SNP-associated disease risk. bioRxiv 2019. […Link…]
  • Gjerdevik M, Haaland ØA, Romanowska J, Lie RT, Jugessur A, Gjessing HK. Parent-of-origin-environment interactions in case-parent triads with or without independent controls. Annals of Human Genetics 2018; 82: 60–73. […Link…]
  • Haaland ØA, Jugessur A, Gjerdevik M, et al. Genome-wide analysis of parent-of-origin interaction effects with environmental exposure (PoOxE): An application to European and Asian cleft palate trios. PLOS ONE 2017; 12: e0184358.
  • Skare Ø, Jugessur A, Lie RT, et al. Application of a Novel Hybrid Study Design to Explore Gene‐Environment Interactions in Orofacial Clefts. Annals of Human Genetics 2012; 76: 221–36.
  • Haaland ØA, Lie RT, Romanowska J, Gjerdevik M, Gjessing HK, Jugessur A. A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG. Frontiers in Genetics 2018; 9. […Link…]
Other publications documenting and explaining methodology
  • Jugessur A, Skare Ø, Harris JR, Lie RT, Gjessing HK. Using offspring-parent triads to study complex traits: A tutorial based on orofacial clefts. Norsk epidemiologi 2012; 21. […Link…]
  • Jugessur A, Gjessing HK, Wilcox AJ, et al. 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 2012; 21. […Link…]
  • Skare Ø, Gjessing HK, Gjerdevik M, et al. A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts. PLOS ONE 2017; 12: e0183772. […Link…]
Other publications using Haplin
  • Skare Ø, Lie RT, Haaland ØA, et al. 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. Frontiers in Genetics 2018; 9.
  • Stoknes M, Lien E, Andersen GL, et al. Child apolipoprotein E gene variants and risk of cerebral palsy: Estimation from case–parent triads. European Journal of Paediatric Neurology 2015; 19: 286–91.
  • Li H, Romieu I, Sienra-Monge JJ, et al. Genetic polymorphisms in arginase I and II and childhood asthma and atopy. Journal of Allergy and Clinical Immunology 2006; 117: 119–126.
  • Moreno Uribe LM, Fomina T, Munger RG, et al. A Population-Based Study of Effects of Genetic Loci on Orofacial Clefts. J Dent Res 2017.
  • Lie RT, Wilcox AJ, Taylor J, et al. Maternal Smoking and Oral Clefts: The Role of Detoxification Pathway Genes. Epidemiology 2008; 19: 606–15.
  • Myking S, Myhre R, Gjessing HK, et al. Candidate gene analysis of spontaneous preterm delivery: New insights from re-analysis of a case-control study using case-parent triads and control-mother dyads. BMC Medical Genetics 2011; 12: 174.
  •  Jugessur A, Shi M, Gjessing HK, et al. Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: A subphenotype analysis using two population-based studies of orofacial clefts in scandinavia. Birth Defects Research Part A: Clinical and Molecular Teratology 2011; 91: 85–92. […Link…]
  • Jugessur A, Shi M, Gjessing HK, et al. Genetic Determinants of Facial Clefting: Analysis of 357 Candidate Genes Using Two National Cleft Studies from Scandinavia. PLOS ONE 2009; 4: e5385. […Link…]
  • Vefring HK, Wee L, Jugessur A, Gjessing HK, Nilsen ST, Lie RT. Maternal angiotensinogen(AGT) haplotypes, fetal renin(REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data. BMC Medical Genetics 2010; 11: 90.
  • Myking S, Boyd HA, Myhre R, et al. X-Chromosomal Maternal and Fetal SNPs and the Risk of Spontaneous Preterm Delivery in a Danish/Norwegian Genome-Wide Association Study. PLoS ONE 2013; 8: e61781. […Link…]
  • Jugessur A, Skare Ø, Lie RT, et al. X-Linked Genes and Risk of Orofacial Clefts: Evidence from Two Population-Based Studies in Scandinavia. PLoS ONE 2012; 7: e39240. […Link…]
  •  Jugessur A, Rahimov F, Lie RT, et al. 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. Genetic Epidemiology 2008; 32: 413–24. […Link…]
  • Jugessur A, Shi M, Gjessing HK, et al. Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia. PLoS ONE 2010; 5: e11493. […Link…]

By other authors

  • Abdulkadir M, Londono D, Gordon D, et al. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach. European Archives of Psychiatry and Clinical Neuroscience 2017; published online May 29. DOI:10.1007/s00406-017-0808-8.
  • Ibarra-Arce A, García-Álvarez M, Cortés-González D, et al. IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip. Meta Gene 2015; 4: 8–16.
  • Wu H, Romieu I, Sienra-Monge J-J, et al. Genetic variation in S-nitrosoglutathione reductase (GSNOR) and childhood asthma. Journal of Allergy and Clinical Immunology 2007; 120: 322–8.
  • Liu N, Zhang K, Zhao H. Haplotype‐Association Analysis. Advances in Genetics 2008; 60: 335–405.
  • Shi M, Umbach DM, Weinberg CR. Using case-parent triads to estimate relative risks associated with a candidate haplotype. Ann Hum Genet 2009; 73: 346–59.
  • Rahimov F. Determining the role of the IRF6 gene in nonsyndromic cleft lip and palate. 2008. [...Link...]
  • Wise AS, Shi M, Weinberg CR. Learning about the X from our parents. Front Genet 2015; 6.
  • Salahshourifar I, Halim AS, Wan Sulaiman WA, Zilfalil BA. Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population. Journal of Human Genetics 2011; 56: 755–8.
  • Wise AS, Shi M, Weinberg CR. Family-Based Multi-SNP X Chromosome Analysis Using Parent Information. Frontiers in Genetics 2016; 7.
  • Nousome D, Lupo PJ, Okcu MF, Scheurer ME. Maternal and offspring xenobiotic metabolism haplotypes and the risk of childhood acute lymphoblastic leukemia. Leukemia Research 2013; 37: 531–5.
  • Salahshourifar I, Sulaiman WAW, Zilfalil BA, Halim AS. Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population. Am J Med Genet 2011; 155: 2302–7.
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