Jeffrey Murray

Summary

Affiliation: University of Iowa
Country: USA

Publications

  1. pmc Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
    Jinsil Kim
    Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA
    BMC Med Genet 14:77. 2013
  2. pmc High dosage folic acid supplementation, oral cleft recurrence and fetal growth
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, IA 52242, USA
    Int J Environ Res Public Health 10:590-605. 2013
  3. pmc Oral cleft prevention program (OCPP)
    George L Wehby
    University of Iowa, Iowa City, IA, USA
    BMC Pediatr 12:184. 2012
  4. pmc The effects of oral clefts on hospital use throughout the lifespan
    George L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, 105 River Street, N248 CPHB, Iowa City, IA 52242, USA
    BMC Health Serv Res 12:58. 2012
  5. pmc Transcriptome landscape of the human placenta
    Jinsil Kim
    Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA52242, USA
    BMC Genomics 13:115. 2012
  6. pmc The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts
    George L Wehby
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    BMC Pediatr 11:121. 2011
  7. pmc PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome
    T A Hjalt
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    J Cell Biol 152:545-52. 2001
  8. pmc Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149]
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, USA
    BMC Pediatr 6:9. 2006
  9. pmc Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
    Nicole L Maciolek
    Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    BMC Med Genet 7:59. 2006
  10. pmc Cleft palate: players, pathways, and pursuits
    Jeffrey C Murray
    Department of Pediatrics and Craniofacial Anomalies Research Center, University of Iowa, Iowa City, Iowa 52242, USA
    J Clin Invest 113:1676-8. 2004

Detail Information

Publications82

  1. pmc Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study
    Jinsil Kim
    Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA
    BMC Med Genet 14:77. 2013
    ..Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated with PTB in oxytocin pathway genes whose role in parturition is well known...
  2. pmc High dosage folic acid supplementation, oral cleft recurrence and fetal growth
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, IA 52242, USA
    Int J Environ Res Public Health 10:590-605. 2013
    ..To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth...
  3. pmc Oral cleft prevention program (OCPP)
    George L Wehby
    University of Iowa, Iowa City, IA, USA
    BMC Pediatr 12:184. 2012
    ....
  4. pmc The effects of oral clefts on hospital use throughout the lifespan
    George L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, 105 River Street, N248 CPHB, Iowa City, IA 52242, USA
    BMC Health Serv Res 12:58. 2012
    ..However, not much is known about the long term effects of oral clefts on health and healthcare use of affected individuals. In this study, we evaluate the effects of oral clefts on hospital use throughout the lifespan...
  5. pmc Transcriptome landscape of the human placenta
    Jinsil Kim
    Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA52242, USA
    BMC Genomics 13:115. 2012
    ..Detailing the placental tissue transcriptome could provide a valuable resource for genomic studies related to placental disease...
  6. pmc The effect of systematic pediatric care on neonatal mortality and hospitalizations of infants born with oral clefts
    George L Wehby
    Department of Pediatrics, University of Iowa, Iowa City, IA, USA
    BMC Pediatr 11:121. 2011
    ..This study aimed at assessing the effects of systematic pediatric care on neonatal mortality and hospitalizations of infants with cleft lip and/or palate (CL/P) in South America...
  7. pmc PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome
    T A Hjalt
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    J Cell Biol 152:545-52. 2001
    ..Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI...
  8. pmc Description of the methodology used in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America [NCT00097149]
    George L Wehby
    Department of Health Management and Policy, University of Iowa, Iowa City, USA
    BMC Pediatr 6:9. 2006
    ..As other mortality and morbidity causes including infections, hygiene, prematurity, and nutrition are eradicated in less developed countries, the burden of birth defects will increase proportionally...
  9. pmc Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome
    Nicole L Maciolek
    Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA
    BMC Med Genet 7:59. 2006
    ..Several intronic PITX2 mutations have been reported in Axenfeld-Rieger patients but their effects on gene expression have not been tested...
  10. pmc Cleft palate: players, pathways, and pursuits
    Jeffrey C Murray
    Department of Pediatrics and Craniofacial Anomalies Research Center, University of Iowa, Iowa City, Iowa 52242, USA
    J Clin Invest 113:1676-8. 2004
    ..Related work has provided further support for investigating the role of common environmental triggers as causal covariates...
  11. pmc Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth
    Nicole L Ehn
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Pediatr Res 62:630-5. 2007
    ..No etiologic sequence variants were found in the coding sequence of the PGR gene. This study suggests that genetic variation in the PGR gene of either the mother or the fetus may trigger preterm labor...
  12. ncbi request reprint Application of kinetic polymerase chain reaction and molecular beacon assays to pooled analyses and high-throughput genotyping for candidate genes
    Min Shi
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Birth Defects Res A Clin Mol Teratol 70:65-74. 2004
    ..Analytic approaches for DNA genotyping are under constant development, but current applications allow small amounts (less than 2 ng per assay) of DNA to be used for genotyping...
  13. ncbi request reprint Integrating molecular genetics analyses into clinical research
    Debra L Schutte
    University of Iowa College of Nursing, Iowa City, 52242, USA
    Biol Res Nurs 8:67-77. 2006
    ....
  14. pmc Prenatal care effectiveness and utilization in Brazil
    George L Wehby
    Dept of Health Management and Policy, University of Iowa, E204, GH, Iowa City, IA 52242, USA
    Health Policy Plan 24:175-88. 2009
    ..Further research is needed to understand the effects of prenatal care use for pregnancies that are complicated with birth defects...
  15. pmc Predictors of multivitamin use during pregnancy in Brazil
    George L Wehby
    College of Public Health, Department of Health Management and Policy, University of Iowa, E204, GH, Iowa City, IA 52242, USA
    Int J Public Health 54:78-87. 2009
    ..The study aimed at identifying predictors of multivitamin use during pregnancy in Brazil...
  16. pmc Medical sequencing of candidate genes for nonsyndromic cleft lip and palate
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    PLoS Genet 1:e64. 2005
    ..This study also illustrates the need to test large numbers of controls to distinguish rare polymorphic variants and prioritize functional studies for rare point mutations...
  17. ncbi request reprint CHD7 gene and non-syndromic cleft lip and palate
    Temis M Felix
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Med Genet A 140:2110-4. 2006
    ..Mutations in CHD7 are not common in isolated clefting cases and we found minimal evidence that CHD7 can act as a modifier for non-syndromic clefting...
  18. ncbi request reprint Predictors of topical anesthetic effectiveness in children
    Charmaine Kleiber
    College of Nursing, University of Iowa, Iowa City, Iowa, USA
    J Pain 8:168-74. 2007
    ..0001), more active (P = .0029), scored higher for trait (P = .0009) and state anxiety (P = .0312), and had the EDNRA TT genotype (high pain group, TT 67.35%; low pain group, TT 39.47%; P = .026)...
  19. pmc Type of oral cleft and mothers' perceptions of care, health status, and outcomes for preadolescent children
    Peter C Damiano
    Public Policy Center, Department of Preventive and Community Dentistry, University of Iowa, 221 S Quadrangle, Iowa City, IA 52242, USA
    Cleft Palate Craniofac J 43:715-21. 2006
    ..To evaluate the outcomes of care for children by type of oral cleft...
  20. ncbi request reprint Cognitive dysfunction in adults with Van der Woude syndrome
    Peg Nopoulos
    Department of Psychiatry, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
    Genet Med 9:213-8. 2007
    ..Given the similarities between Van der Woude syndrome and isolated cleft of the lip and/or palate, the current study was designed to evaluate the pattern of cognitive function in adults with Van der Woude syndrome...
  21. ncbi request reprint Health-related quality of life among preadolescent children with oral clefts: the mother's perspective
    Peter C Damiano
    DDS, Health Policy Research Program, University of Iowa, Public Policy Center, 227 S Quadrangle, Iowa City, IA 52242, USA
    Pediatrics 120:e283-90. 2007
    ....
  22. pmc Determination of genetic predisposition to patent ductus arteriosus in preterm infants
    John M Dagle
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Pediatrics 123:1116-23. 2009
    ..Our major goal was to determine if genetic risk factors play a role in patent ductus arteriosus seen in preterm infants...
  23. pmc 'Mendelian randomization' equals instrumental variable analysis with genetic instruments
    George L Wehby
    Department of Health Management and Policy, University of Iowa, E204 GH, Iowa City, IA 52242, USA
    Stat Med 27:2745-9. 2008
    ....
  24. pmc Genetic contributions to the development of retinopathy of prematurity
    Shakir Mohamed
    Department of Pediatrics, University of Iowa, Iowa 52242, USA
    Pediatr Res 65:193-7. 2009
    ..003), AGTR1 (p = 0.005), TBX5 (p = 0.003), CETP (p = 0.004), and GP1BA (p = 0.005). Our data suggest that genetic risk factors contribute to the development of ROP...
  25. pmc Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip
    Fedik Rahimov
    Department of Pediatrics, University of Iowa, 2182 ML, S Grand Ave, Iowa City, Iowa 52242, USA
    Nat Genet 40:1341-7. 2008
    ..Our findings place IRF6 and AP-2alpha in the same developmental pathway and identify a high-frequency variant in a regulatory element contributing substantially to a common, complex disorder...
  26. pmc Prenatal care demand and its effects on birth outcomes by birth defect status in Argentina
    George L Wehby
    Department of Health Management and Policy, College of Public Health, University of Iowa, E204, GH, Iowa City, IA 52242, USA
    Econ Hum Biol 7:84-95. 2009
    ..The suggested ineffectiveness for pregnancies complicated with common birth defects deserves further research...
  27. pmc Quantile effects of prenatal care utilization on birth weight in Argentina
    George L Wehby
    Deptartment of Health Management and Policy, College of Public Health, University of Iowa, Iowa City, IA 52242, USA
    Health Econ 18:1307-21. 2009
    ....
  28. ncbi request reprint Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model
    Andrew C Lidral
    Department of Orthodontics and Dows Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA
    Birth Defects Res A Clin Mol Teratol 70:893-901. 2004
    ..The purpose of this article is to provide an overview of genetic approaches to identifying disease genes for genetically complex birth defects...
  29. ncbi request reprint Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    Theresa M Zucchero
    University of Iowa, Iowa City 52242, USA
    N Engl J Med 351:769-80. 2004
    ..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene...
  30. ncbi request reprint Genetic Drift. Prenatal diagnosis is for the DR, not just for the OR
    Jeffrey C Murray
    Department of Pediatrics, University of Iowa Hospitals, Iowa City, Iowa 52212 1088, USA
    Am J Med Genet A 120:594-5. 2003
  31. pmc FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate
    Lina M Moreno
    Department of Orthodontics, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 18:4879-96. 2009
    ..These data indicate that FOXE1 is a major gene for CL/P and provides new insights for improved counseling and genetic interaction studies...
  32. pmc Health professionals' assessment of health-related quality of life values for oral clefting by age using a visual analogue scale method
    George L Wehby
    College of Public Health, Department of Health Management and Policy, University of Iowa, Iowa City, Iowa 52242 1181, USA
    Cleft Palate Craniofac J 43:383-91. 2006
    ..To elicit health-related quality of life (HRQL) values associated with oral clefting by age using a visual analogue scale, and to explore the appropriateness of using health professionals as evaluators...
  33. pmc Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases
    Bridget M Riley
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    Am J Med Genet A 143:3228-34. 2007
    ..Additionally, 15 NS CLP patients had a combination of coding mutations and CNE variants, suggesting that an accumulation of variants in the FGF signaling pathway may contribute to clefting...
  34. ncbi request reprint Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2
    Min Shi
    Biology Department, University of Iowa, Iowa City, Iowa 52242, USA
    Birth Defects Res A Clin Mol Teratol 67:545-9. 2003
    ....
  35. pmc Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants
    Min Shi
    Department of Biology, University of Iowa, Iowa City, IA, 52242, USA
    Am J Hum Genet 80:76-90. 2007
    ..This study benefited from two large samples, involving independent populations, that provided substantial power and a framework for future studies that could identify a susceptible population for preventive health care...
  36. pmc Impaired FGF signaling contributes to cleft lip and palate
    Bridget M Riley
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 104:4512-7. 2007
    ..The data suggest that the FGF signaling pathway may contribute to as much as 3-5% of NS CLP and will be a consideration in the clinical management of CLP...
  37. ncbi request reprint The effects of prenatal use of folic acid and other dietary supplements on early child development
    George L Wehby
    Department of Pediatrics, University of Iowa, 2182 ML, S Grand Ave, Iowa City, IA 52242, USA
    Matern Child Health J 12:180-7. 2008
    ..Our objective was to evaluate in an exploratory framework the effects of prenatal use of folic acid and other dietary supplements on child development at around 3 years of life...
  38. ncbi request reprint [Mutational analysis of the muscle segment homeobox gene 1 (MSX1) in Chilean patients with cleft lip/palate]
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Rev Med Chil 132:816-22. 2004
    ..Mutations of the MSX1 gene may contribute to non-syndromic forms of cleft lip and/or cleft palate...
  39. pmc X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate
    Jane W Kimani
    Department of Pediatrics, University of Iowa, Iowa City, Iowa, USA
    Am J Med Genet A 143:3267-72. 2007
    ..However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting, particularly cleft lip and palate...
  40. ncbi request reprint Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts
    Lon L Barrow
    Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA
    Teratology 66:85-90. 2002
    ..Arnt2 and Ahr proteins dimerize in vitro. TCDD exposure is also associated with orofacial clefting in children of parents involved in agricultural work...
  41. pmc Search for genomic alterations in monozygotic twins discordant for cleft lip and/or palate
    Jane W Kimani
    Department of Pediatrics, University of Iowa, Iowa 52242, United States of America
    Twin Res Hum Genet 12:462-8. 2009
    ..The stability of genomes we observed in our study samples also suggests that detection of discordant events in other monozygotic twin pairs would be remarkable and of potential disease significance...
  42. pmc Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
    Shinji Kondo
    Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
    Nat Genet 32:285-9. 2002
    ..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia...
  43. pmc Association of specific language impairment (SLI) to the region of 7q31
    Erin K O'Brien
    Department of Otolaryngology, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 72:1536-43. 2003
    ....
  44. pmc Orofacial clefting: recent insights into a complex trait
    Astanand Jugessur
    Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA
    Curr Opin Genet Dev 15:270-8. 2005
    ..Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting...
  45. ncbi request reprint Maternal age and oral clefts: a reappraisal
    Alexandre R Vieira
    Department of Pediatrics, University of Iowa, Iowa City 52242 1083, USA
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94:530-5. 2002
    ..The aim of the study was to test the hypothesis that increased maternal age is associated with a higher risk of having a child with oral clefts...
  46. ncbi request reprint Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome
    Dimitri G Trembath
    Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
    Birth Defects Res A Clin Mol Teratol 70:82-91. 2004
    ..A gene responsible for Rieger's syndrome, PITX2, has previously been cloned using two patients with balanced translocations, t(4;16) and t(4;11), with breakpoints that lie near the gene, but which do not interrupt it...
  47. ncbi request reprint Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count
    She Min Zeng
    Department of Obstetrics and Gynecology, University of Iowa, Iowa City, Iowa 52242 1080, USA
    Am J Hematol 77:12-21. 2004
    ..These new SNPs found for the human TPO and TPOR genes help explain variations in blood PLT counts and may be useful in patient studies related to the roles of TPO and/or TPOR in disease...
  48. pmc Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection
    Theresa M Karplus
    Department of Internal Medicine, University of Iowa, Iowa City 52242, USA
    Infect Immun 70:6919-25. 2002
    ..chagasi infection. The results preliminarily suggest that this may be the case, and follow-up with larger populations is needed for verification...
  49. ncbi request reprint Discordant MZ twins with cleft lip and palate: a model for identifying genes in complex traits
    Maria Adela Mansilla
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Twin Res Hum Genet 8:39-46. 2005
    ..While no etiologic variants were identified in this study, sequence comparisons of discordant MZ twins can serve as a tool for identifying etiologic mutations in clefting and other complex traits...
  50. ncbi request reprint GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
    Fedik Rahimov
    Department of Pediatrics, University of Iowa, Iowa, USA
    Am J Med Genet A 140:2571-6. 2006
    ..Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient...
  51. ncbi request reprint An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome
    Irfan Saadi
    Genetics Program, University of Iowa, Iowa City, Iowa 52242 1109, USA
    Birth Defects Res A Clin Mol Teratol 76:175-81. 2006
    ..These mutations are of particular interest because the C-terminus has both inhibitory and stimulatory activities...
  52. ncbi request reprint Conjoined twins in a monozygotic triplet pregnancy: prenatal diagnosis and X-inactivation
    She Min Zeng
    Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City, Iowa 52240, USA
    Teratology 66:278-81. 2002
    ..CTS are rare, and even more unusual when part of a triplet pregnancy...
  53. pmc Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region
    Rebecca L Slayton
    Department of Pediatric Dentistry, Oregon Health and Science University School of Dentistry, SD 182, 611 SW Campus Drive, Portland, OR 97239, USA
    Cleft Palate Craniofac J 40:274-9. 2003
    ..The purpose of this study was to determine whether the candidate genes previously studied in subjects with cleft lip, cleft palate, or both are associated with hypodontia outside the region of the cleft...
  54. pmc 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
    Astanand Jugessur
    Section for Epidemiology and Medical Statistics, Department of Public Health and Primary Health Care, University of Bergen, Bergen, Norway
    Genet Epidemiol 32:413-24. 2008
    ..113). Taken together, these findings further support a role for IRF6 variants in clefting of the lip and provide specific risk estimates in a Norwegian population...
  55. pmc Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects
    Min Shi
    Biostatistics Branch, NIEHS, NIH, DHHS, Research Triangle Park, North Carolina, USA
    Birth Defects Res C Embryo Today 84:16-29. 2008
    ..As samples and data become increasingly available, more effort is needed in designing innovative analytical methods to study gene-environment interactions...
  56. pmc A genome wide linkage scan for cleft lip and palate and dental anomalies
    Alexandre R Vieira
    Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet A 146:1406-13. 2008
    ..Our preliminary results support the hypothesis that some loci may contribute to both clefts and congenital dental anomalies. Also, adding dental anomalies information will provide new opportunities to map susceptibility loci for clefts...
  57. ncbi request reprint Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium for Oral Clefts Genetics
    Laura E Mitchell
    Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 6021, USA
    Cleft Palate Craniofac J 39:93-100. 2002
    ..This report presents summary statements of the four subcommittees...
  58. ncbi request reprint Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis
    Astanand Jugessur
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Genet Epidemiol 24:230-9. 2003
    ..The effect of this TGFA genotype was even stronger among children homozygous for the MSX1-CA A4 allele, raising the possibility of interaction between these two genes...
  59. ncbi request reprint Evaluation of two methods for assessing gene-environment interactions using data from the Danish case-control study of facial clefts
    Analee J Etheredge
    Institute of Biosciences and Technology, Texas A and M University System Health Science Center, Houston, 77030, USA
    Birth Defects Res A Clin Mol Teratol 73:541-6. 2005
    ....
  60. ncbi request reprint Integration of DNA sample collection into a multi-site birth defects case-control study
    Sonja A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Teratology 66:177-84. 2002
    ....
  61. ncbi request reprint Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects
    Alexandre R Vieira
    Am J Med Genet A 135:220-3. 2005
  62. ncbi request reprint Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads
    Astanand Jugessur
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Am J Epidemiol 157:1083-91. 2003
    ..These findings suggest a possible role of MTHFR and folic acid in the causation of orofacial clefts, but the strength and direction of these effects remain to be clarified...
  63. ncbi request reprint Preliminary molecular studies on blepharocheilodontic syndrome
    Erika L Freitas
    Departamento de Genética Médica, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, Sao Paulo, Brazil
    Am J Med Genet A 143:2757-9. 2007
  64. ncbi request reprint In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
    Yasushi Suzuki
    Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi Gakuin University, Nagoya, Japan
    Genet Med 6:117-25. 2004
    ..To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population...
  65. pmc Cancer risk in persons with oral cleft--a population-based study of 8,093 cases
    Camilla Bille
    Center for the Prevention of Congenital Malformations, Institute of Public Health, University of Southern Denmark, Odense, Denmark
    Am J Epidemiol 161:1047-55. 2005
    ..14, 6.78), and primary lung cancer among males born with both cleft lip and cleft palate (SIR = 2.49, 95% CI: 1.00, 5.14). The results do not provide evidence for an increased overall cancer risk for individuals born with oral clefts...
  66. ncbi request reprint Dermatoglyphic pattern types in subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and their unaffected relatives in the Philippines
    Nicole M Scott
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Cleft Palate Craniofac J 42:362-6. 2005
    ..To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives...
  67. ncbi request reprint Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines
    Nicole M Scott
    Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Suite 500, Cellomics Building, 100 Technology Dr, Pittsburgh, PA 15219, USA
    Hum Biol 77:257-66. 2005
    ..These results support our hypothesis that population-specific associations and population heterogeneity in dermatoglyphic patterns exist for CL/P cases and their relatives...
  68. ncbi request reprint Candidate genes for oral-facial clefts in Guatemalan families
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Ann Plast Surg 56:518-21; discussion 521. 2006
    ..02, broad). Association with JAG2 improved from P = 0.09 under the narrow definition to P = 0.04 under the broad definition. Broadening the oral-facial cleft phenotype to include subclinical variants may improve power in genetic studies...
  69. pmc Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
    Mary L Marazita
    Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA
    Am J Hum Genet 75:161-73. 2004
    ..0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder...
  70. pmc Parent's age and the risk of oral clefts
    Camilla Bille
    Epidemiology, Institute of Public Health, University of Southern Denmark, J B Winsløwsvej 9, DK 5000 Odense C, Denmark
    Epidemiology 16:311-6. 2005
    ..The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts...
  71. ncbi request reprint Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: assessing gene-environment interactions in case-parent triads
    Astanand Jugessur
    Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Genet Epidemiol 25:367-74. 2003
    ..7, 95% CI=0.2-15.7). In conclusion, we find little evidence of interaction between the child's genotypes at TGFA TaqI and various exposures for cleft palate, with the possible exception of folic acid intake...
  72. ncbi request reprint Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 48:622-8. 2003
    ..Our simple methods to identify deletions and to determine the boundaries of a deletion would facilitate the identification of such patients...
  73. ncbi request reprint Retinoic acid receptor alpha gene variants, multivitamin use, and liver intake as risk factors for oral clefts: a population-based case-control study in Denmark, 1991-1994
    Laura E Mitchell
    Department of Biomedical Sciences, Baylor College of Dentistry, The Texas A and M University System Health Science Center, Houston, TX, USA
    Am J Epidemiol 158:69-76. 2003
    ....
  74. pmc Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis
    Alexandre R Vieira
    Department of Oral Biology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
    Am J Med Genet A 143:538-45. 2007
    ..014) and IRF6 (P = 0.002) markers. There were statistically significant data suggesting that IRF6 interacts not only with MSX1 (P = 0.001), but also with TGFA (P = 0.03)...
  75. ncbi request reprint What genome-wide association studies can do for medicine
    Kaare Christensen
    University of Southern Denmark, Odense, Denmark
    N Engl J Med 356:1094-7. 2007
  76. ncbi request reprint Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice
    Clemencia Colmenares
    Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Nat Genet 30:106-9. 2002
    ..3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting...
  77. pmc Candidate gene and locus analysis of myopia
    Donald O Mutti
    College of Optometry, The Ohio State University, Columbus, OH 43210 1240, USA
    Mol Vis 13:1012-9. 2007
    ..We attempted to replicate these findings and to conduct a candidate gene and locus evaluation of genetic involvement in common forms of myopia...
  78. ncbi request reprint Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects
    Alexandre R Vieira
    Am J Med Genet 111:218-9. 2002
  79. ncbi request reprint PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI
    Lucilene Arilho Ribeiro
    Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 140:2584-6. 2006
    ..One of our patients had a Thr1052Met mutation, holoprosencephaly-like facial features, and a normal MRI. Ming et al. [(2002); Hum Genet 110:297-301] reported an identical mutation, but with alobar holoprosencephaly...
  80. ncbi request reprint Oral clefts and life style factors--a case-cohort study based on prospective Danish data
    Camilla Bille
    Center for the Prevention of Congenital Malformations, Institute of Public Health, University of Southern Denmark, J B Winsløwsvej 9B, 5000 Odense C, Denmark
    Eur J Epidemiol 22:173-81. 2007
    ..The present study found an association between oral clefts and smoking and, although not conclusive, supports an association of oral cleft with alcohol...
  81. pmc PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations
    Joseph R Avila
    Department of Cytokine Biology, The Forsyth Institute and Department of Developmental Biology, Harvard School of Dental Medicine, Boston, Massachusetts, USA
    Am J Med Genet A 140:2562-70. 2006
    ..Together these data suggest that both rare and common mutations within PVRL1 make a minor contribution to disrupting the initiation and regulation of cell-to-cell adhesion and downstream morphogenesis of the embryonic face...
  82. ncbi request reprint Genetic loci for pathological myopia are not associated with juvenile myopia
    Donald O Mutti
    The Ohio State University College of Optometry, Columbus, Ohio 43210 1240, USA
    Am J Med Genet 112:355-60. 2002
    ..0, assuming homogeneity, was estimated at 93.2%. We found no confirmatory evidence of linkage between juvenile myopia and regions of chromosomes 12 and 18 previously associated with pathological myopia...

Research Grants49

  1. A Family and Population Approach to Gene Discovery for Preterm Birth
    Jeffrey C Murray; Fiscal Year: 2010
    ....
  2. BIRTH DEFECTS TREATMENT AND PREVENTION PROGRAM
    Jeffrey Murray; Fiscal Year: 2007
    ..between-Brazil-and-the-United-Statesi.to better-understand the effects,_oLbirtb-.defects_and^cranioiaciaLanomalies-jn-particular^on-maternaLfamily-units-and-to. decrease the burden of these defects directly. ..
  3. Oral cleft prevention program
    Jeffrey Murray; Fiscal Year: 2007
    ..If we were to realize a 50% reduction in CLP in these families, in the US alone, we would decrease the personal burden on each individual child and family and save $100 million in cleft-related economic costs per year. ..
  4. Genome-wide association studies of prematurity and its complications
    Jeffrey Murray; Fiscal Year: 2007
    ....
  5. Identification of maternal and fetal genetic factors in preterm birth
    Jeffrey Murray; Fiscal Year: 2007
    ....
  6. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 2007
    ..It will confirm proof of principle that complex human birth defects can be understood, and diagnosis and prevention improved. ..
  7. PREDOCTORAL TRAINING PROGRAM IN GENETICS
    Jeffrey Murray; Fiscal Year: 2007
    ....
  8. Discordant MZ twins in craniofacial gene discovery
    Jeffrey Murray; Fiscal Year: 2006
    ..In addition, the study could result in proof of principle that discordant MZ twins are powerful resources for gene and/or mechanism identification in studies of complex traits in general. ..
  9. Identification of maternal and fetal genetic factors in preterm birth
    Jeffrey C Murray; Fiscal Year: 2010
    ....
  10. Craniofacial Anomalies Research Center
    Jeffrey Murray; Fiscal Year: 2007
    ..It will confirm proof of principle that complex human craniofacial disorders can be understood and diagnosis and prevention improved. ..
  11. COMPREHENSIVE SEQUENCE EVALUATION OF CLEFT LIP AND PALAT
    Jeffrey Murray; Fiscal Year: 2004
    ....
  12. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 1992
    ..The major genes identified in the association and linkage analysis will then be characterized using fine structure genetic mapping and DNA sequencing techniques...
  13. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 1993
    ....
  14. MOLECULAR GENETIC EPIDEMIOLOGY OF CLEFT LIP AND PALATE
    Jeffrey Murray; Fiscal Year: 2003
    ..abstract_text> ..
  15. PITX HOMEOBOX GENE FAMILY IN HUMAN DEVELOPMENT DISORDERS
    Jeffrey Murray; Fiscal Year: 2003
    ....