Murray Lab @ UIowa

Publications

Vieira AR, Goldstein-McHenry T, Daack-Hirsch S, Murray JC, Marazita ML. A genome-wide linkage scan for cleft lip and palate and dental anomalies. Am J Med Genet A.146A:1406-1413, 2008
Supplemental materials:
Appendix 1
Appendix 2
Appendix 3
Appendix 4
Appendix Legends

Shi M, Wehby GL, Murray JC. Review on Genetic Variants and Maternal Smoking in the Etiology of Oral Clefts and Other Birth Defects. Birth Defects Res Part C 84:16-29, 2008.

Wehby GL, Ohsfeldt RL, Murray JC. �Mendelian randomization� equals instrumental variable analysis with genetic instruments. Stat Med. Jul 10;27(15):2745-2749, 2008.

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(5):413-424, 2008.
Supplemental materials:
Supplementary TABLE

Kimani JW, Shi M, Daack-Hirsch S, Christensen K, Moretti-Ferreira D, Marazita ML, Field LL, Canady JW, Murray JC. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate. Am J Med Genet A. Nov 14;143(24):3267-3272, 2007

Freitas EL, Martinhago CD, Ramos ES, Murray JC, Gilda-Silva-Lopes VL. Preliminary molecular studies on blepharocheilodontic syndrome. Am J Med Genet A. 143A:2757-2759, 2007.

Merialdi M and Murray JC. Commentary. The changing face of preterm birth. Pediatrics 120(5):1133-1134, 2007.

Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L�Heureux JL, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EFPM, Borg A, Schutte BC, Lammer EJ, Murray JC, De Jong PJ. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization. J Med Genet. 45:81-86, 2008.

Riley B and Murray JC. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. Am J Med Genet A. 143A:3228-3234, 2007.
Supplemental materials:
Supplementary figures
Supplementary Table I
Supplementary Table II

K.M. Steffen, M.E. Cooper, M. Shi, D. Caprau, H.N. Simhan, J.M. Dagle, M.L. Marazita and J.C. Murray. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery. Journal of Perinatology 27:672-680, 2007.
Supplemental materials:
Tables

Nicole L. Ehn, Margaret E. Cooper, Kristin Orr, Min Shi, Marla K. Johnson, Ehn NL, Cooper ME, Orr K, Shi M, Johnson MK, Caprau D, Dagle J, Steffen K, Johnson K, Marazita ML, Merrill D, Murray JC. Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth. Pediatric Research 62(5):630-635, 2007.

Mutti DO, Cooper ME, O'Brien SR, Jones LA, Marazita ML, Murray JC, Zadnik K. Candidate gene and locus analysis of myopia. Molecular Vision 13:1012-1019, 2007.

Wehby GL and Murray JC. The effects of prenatal use of folic acid and other dietary supplements on early child development. Matern Child Health J (June 7), 2007.

Nopoulos P, Richman L. Anderson NC, Murray JC, Schutte B. Abnormal brain structure in adults with Van der Woude syndrome. Clin Genet 71:511-517, 2007.

Felix TM, Tansey MJ, Patil SR, Murray JC and Dagle JM. Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter Syndrome. Am J Med Genet Part A 143A:895-898, 2007.

Abidi F, Miano MG, Murray JC, Schwartz CE. A novel mutation in the PHF8 gene is associated with x-linked mental retardation with cleft lip/cleft palate. Clin Genet 72:19-22, 2007.

Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B. Cognitive dysfunction in adults with Van der Woude syndrome. Genet in Med 9(4):213-218, 2007.

Christensen K and Murray JC. What genome-wide association studies can do for medicine. N Engl J Med Mar 15:356(11):1094-1097, 2007.

Bille C, Olsen J, Vach W, Knudsen VK, Olsen SF, Rasmussen K, Murray JC, Andersen AM, Christensen K. Oral clefts and life style factors - A case-cohort study based on prospective Danish data. Eur J Epidemiol Feb 13[Epub ahead of print], 2007

Vieira AR, Modesto A, Meira R, Schneider-Barbosa AR, Lidral AC, Murray JC. Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. Am J Med Genet Part A 143A:538-545, 2007.

Riley BM, Schultz RE, Cooper ME, Goldstein-McHenry T, Daack-Hirsch S, Lee KT, Dragan E, Viera AR, Marazita ML, Murray JC. A genome-wide linkage scan for cleft lip and cleft palate idenfies a novel locus on 8p11-13. Am J Med Genet Part A 143A:846-852, 2007.

Damiano P, Tyler M, Romitti P, Momany E, Jones M, Canady J, Karnell M, Murray J. Health-related quality of life among preadolescent children with oral clefts. Pediatrics Aug;120(2):e283-290, 2007.

Riley BM, Mansilla MA., Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, Russo ET, Vieira AR, Dode C., Mohammadi M, Marazita ML, Murray JC. Impaired FGF signaling contributes to cleft and lip palate. Proc Natl Acad Sci USA 2007 Mar 13;104(11):4512-4517. Epub 2007 Mar 6.

Shi M, Christensen K, Weinberg CR, Romitti P, Bathum L, Lozada A, Morris RW, Lovett M, Murray JC. Orofacial cleft risk is increased with maternal smoking and specific detoxification gene variants. Am J Hum Genet 80(1):76-90, 2007.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Am J Med Genet Part A. 143A:27-32, 2007.

Damiano P, Tyler M, Romitti P, Momany E, Canady J, Karnell M, Murray J. Type of oral cleft and parent perceptions of care, health status and outcomes for preadolescent children. Cleft Palate Craniofac J. Nov;43(6):715-721, 2006.

Rahimov F, Ribeiro LA, de Miranda E, Richieri-Costa A, Murray JC and Cohen MM. GLI2 Mutations in four Brazilian patients: How wide is the phenotypic spectrum? Am J Med Genet A. Dec 1;140(23)2571-2576, 2006.

Avila JR, Jezewski PA, Vieira AR, Orioli IM, Castilla EE, Christensen K, Daack-Hirsch S, Romitti PA, Murray JC. PVRL1 variants contribute to nonsyndromic cleft lip and palate in multiple populations. Am J Med Genet A. Dec1;140(23):2562-2570, 2006.

Kleiber C, Schutte DL, McCarthy AM, Floria-Santos M, Murray JC, Hanrahan K. Predictors of Topical anesthetic effectiveness in children. J Pain Sept 27; [Epub ahead of print], 2006.

Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. Am J Med Genet A Sept. 25; [Epub ahead of print], 2006

Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC, Schutte BC. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nature Genet Oct 15; 2006

Maciolek N, Alward W, Murray J, Semina E, McNally M. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. BMC Med. Genet. Jul ll;7(1):59, 2006.

Felix TM, Hanshaw BC, Mueller R, Bitoun P, Murray JC. CHD7 Gene and Non-Syndromic Cleft Lip and Palate. Am J Med Genet A June 8;[epub ahead of print] 2006.

Schutte DL, McCarthy AM, Floria-Santos M, Hanrahan K, Murray JC, Kleiber C. Integrating molecular genetics analyses into clinical research. Biol Res Nurs. Jul; 8(1):67-77, 2006.

Warrington A, Vieira AR, Christensen K, Orioli IM, Castilla EE, Romitti PA, Murray JC. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J Med Genet 43(6):e26, 2006.
Supplemental materials:
Appendix 1

Neiswanger K, Deleyiannis FW, Avila JR, Cooper ME, Brandon CA, Vieira AR, Noorchashm N, Weinberg SM, Bardi KM, Murray JC, Marazita ML. Candidate genes for oral-facial celfts in Guatemalan families. Ann Plast Surg 56(5):518-521, 2006.

Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF. An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome. Birth Defects Res A Clin Mol Teratol 76(3):175- 181, 2006.

Espinoza HM, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA. Protein kinase C phosphorylation modulates N- and C- terminal regulatory activities of the PITX2 homeodomain protein. Biochemistry 44(10):3942-3954, 2005.

Wehby GL, Castilla EE, Goco N, Rittler M, Cosentino V, Javois L, McCarthy AM, Bobashev G, Litavecz S, Mariona Al, Dutra G, Lopez-Camelo JS, Orioli IM, Murray JC. Description of the methodology used and progress to date in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America. BMC Pediatr 6(1):9, 2006.

Scott NM, Weinberg SM, Neiswanger K, Daack-Hirsch S, OBrien S, Murray JC and Marazita ML. Dermatoglyphic Pattern Types in Subjects with Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P) and their Unaffected Relatives in the Philippines. Cleft Palate Craniofac J, 42(4):362-366, 2005.

Wehby GL, Ohsfeldt RL, Murray JC. Health professionals' assessment of health-related quality of life values for oral clefting by age using a visual analogue scale method. Cleft Palate Craniofac J 43(4) 383-391., 2006.
Supplemental materials:
Survey
Survey Letter

Yoshirua K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga KI, Sonoda S, Komaki R, Ihara M, Saenko V, Alipov G, Sekine IO, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano C, Ghadami M, Nomura M, Liang De-Sheng, Miw A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet 38(3): 324-330, 2006.

Vieira A, Avila J, Daack-Hirsch S, Dragan E, Felix T, Rahimov F, Harrington J, Schultz R, Watanabe Y, Johnson M, Fang J, OBrien S, Orioli I, Castilla E, FitzPatrick D, Jiang R, Marazita M, Murray J. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. PLoS Genet Dec. 1:e64, 2005.
Supplemental materials:
Appendix 1
Appendix 2
Appendix 3
Appendix 4
Appendix 5
Appendix 6
Appendix 7
Appendix 8
Appendix 9

Mansilla MA, Cooper ME, Goldstein T, Castilla EE, Lopez Camelo JS, Marazita ML, Murray JC. Contributions of PTCH gene variants to isolated cleft lip and palate. Cleft Palate- Craniofac J 43(1):21-29, 2006.

Bille C, Falck Winther J, Bautz A, Murray JC, Olsen J, Christensen K. Cancer Risk in Persons with Oral Cleft – A Population-based Study of 8,093 cases. Am J Epidemiol 161(11):1047-1055, 2005.

Etheredge AJ, Christensen K, del Junco D, Murray JC, Mitchell LE. Evaluation of Two Methods for Assessing Gene-Environment Interactions Using Data from the Danish Case-Control Study of Facial Clefts. Birth Defects Res (Part A): Clinical Mol Teratol 73:541-546, 2005.

Vieira AR, Murray JC, Trembath D, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Lennon-Graham F, Speer M. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. Am J Med Genet 135A:220-223, 2005.

Dietz FR, Cole WG, Tosi LL, Carroll NC, Wemer RD, Comstock D, Murray JC. A search for the gene(s) predisposing to idiopathic clubfoot. Clin Genet 67:361-362, 2005

Jugessur A and Murray JC. Orofacial clefting: recent insights in a complex trait. Curr Opin Genet Dev 15:270-278, 2005.

Bille C, Skytthe A, Vach W, Knudsen LB, Andersen AMN, Murray JC, Christensen K. Parent's Age and the Risk of Oral Clefts. Epidemiology 16(3):311-316, 2005.

Di Paola J, Jugessur A, Goldman T, Reiland J, Tallman D, Sayago C, Murray JC. Platelet glycoprotein Iba and integrin a2b1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel. J Thromb Haemost 3(7):1511-21, 2005.

Scott NM, Weinberg SM, Neiswanger K, Brandon DA, Daack-Hirsch S, Murray JC, Liu Y-e, Marazita ML. Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines. Hum Biol 77(2):257-266, 2005.

Mansilla MA, Kimani J, Mitchell LE, Christensen K, Daack-Hirsch S, Nepomuceno B, Wyszynski DF, Felix TM, Martin NG, Murray JC. Discordant MZ twins with cleft lip and palate: A model for identifying genes in complex traits. Twin Research 8(1):39-46, 2005.

Vieira AR, Castillo Taucher S, Aravena T, Astete C, Sanz P, Tastets ME, Monasterio L, Murray JC. Mutational analysis of the muscle segment homeobox 1 (MSX1) gene in Chilean patients with oral clefts. Revista Medica del Chile 132:816-822, 2004.

Lidral AC, Murray JC. Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model. Birth Defects Res A Clin Mol Teratol 70(12):893-901, 2004.

Vieira A, Meira R, Modesto A, Murray J. MSX1, PAX9 and TGFA contribute to tooth agenesis in humans. J Dent Res 83(9):723-727, 2004.

Zeng SM, Murray JC, Widness JA, Strauss RG, Yankowitz J. Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count. Am J Hematol 77(1):12-21, 2004.

Murray JC, Schutte BC. Cleft palate: Players, pathways, and pursuits. J Clin Invest 113(12):1676-1678, 2004.

Marazita ML, Murray JC, Lidral AC, Arcos-Bargos M, Cooper ME, Goldstein T, Maher BS, Daack-Hirsch S, Schultz R, Nepomucena B, Field LL, Liu Y-e, Prescott N, Winter R, Ray A, Moreno L, Neiswanger K, Swyzynski DF, Bailey-Wilson J, Albacha-Hejazi H, Beaty TH Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet 75(2):161-173, 2004.

Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC. Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes. Am J Med Genet 130A:277-283, 2004.

Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y, Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla E, Moreno L, Arcos-Burgos M, Lidral AC, Field LL, Liu Y, Ray A, Goldstein TH, Sh Interferon regulatory factor 6 (IRF6) is a modifier for isolated cleft lip and palate. N Engl J Med 351:769-780, 2004.
Supplemental materials:
Figure 1
Figure 2
Table 1
Table 2
Table 3
Table 4
Table 5
Table 6

Christensen K, Knud J, Herskind A, Murray JC. Long-term follow-up study of survival associated with cleft lip and palate at birth. Br Med J 328(7453):1405-1409, 2004.

Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper ME, Viet LT, Tin NTD, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC. In a Vietnamese population MSX1 variants contribute to cleft lip and palate. Genet Med 6:117-125, 2004.
Supplemental materials:
Table 9. Relative Risk - Log Linear Model Analysis of Proband's MSX1 CA 4 dose

Shi M, Caprau D, Dagle J, Murray JC, Christensen K. Application of kinetic polymerase chain reaction and molecular beacon assays to pooled analyses and high-throughout genotyping for candidate genes. Birth Defects Res A Clin Mol Teratol 70:65-74, 2004.
Supplemental materials:
Table 1. Sequences of primers used in standard PCR reaction.
Table 2. CEPH control samples with known genotypes.

Trembath DG, Semina EV, Jones DH, Patil S, Qian Q, Amendt BA, Russo AF, Murray JC. Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. Birth Defects Res A Clin Mol Teratol 70(2):82-91, 2004.

Marcano ACB, Doudney D, Braybrook C, Lees MM, Patton MA, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. TBX22 Mutations are a frequent cause of cleft palate. J Med Genet 41:68-74, 2004.

Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. Ophthalmology 111:828-836, 2004.

Schultz RE, Cooper ME, Daack-Hirsch S, Shi M, Nepomucena B, Graf KA, O'Brien EK, O'Brien SE, Marazita ML, Murray JC. A targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families. Am J Med Genet 125A(1):17-22, 2004.
Supplemental materials:
Family 1
Family 10
Family 11
Family 12
Family 13
Family 15
Family 16
Family 17
Family 18
Family 19
Family 2
Family 20
Family 21
Family 22
Family 23
Family 24
Family 25
Family 26
Family 27
Family 28
Family 29
Family 3
Family 30
Family 31
Family 32
Family 33
Family 34
Family 35
Family 36
Family 4
Family 5
Family 6
Family 7
Family 8
Family 9
Famiy 14
Table 1. Primer sequences and annealing temperatures for primers used in these experiments.

Kayano S, Kure S, Suzuki Y, Kanno K, Aoki Y, Kondo S, Schutte BC, Murray JC, Yamada A, Matsubara Y. Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: Two missense mutations (R45Q and P396S) and a 17-kb deletion. J Hum Genet 48:622-628, 2003.

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. Genet Epidemiol 25:367-374, 2003.

Slayton RL, Williams L, Murray JC, Wheeler JJ, Lidral AC, Nishimura CJ. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Cleft Palate-Craniofac J 40:274-279, 2003.

Ferreira de Lima RLL, Moretti-Ferreira D, Richieri-Costa A, Murray JC. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. Am J Med Genet 122A:56-58, 2003.

Shi M, Caprau D, Romitti P, Christensen K, Murray JC. Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for MTHFR, MTHFD, MTRR, RFC1 and GCP2 folate pathway gene variants. Birth Defects Research A Clin Mol Teratol 67:545- 549, 2003.

Jezewski P, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC. Complete sequencing shows a role for MSX1 in non- syndromic cleft lip and palate. J Med Genet 40:399-407, 2003.
Supplemental materials:
Primers
Summary
Variants

O'Brien EK, Zhang X, Nishimura C, Tomblin JB, Murray JC. Association of specific language impairment (SLI) to the region of 7q31. Am J Hum Genet 72:1536-1543, 2003.

Jugessur A, Wilcox AJ, Lie RT, Murray JC, Taylor JA, Ulvik A, Drevon CA, Vindenes HA, Abyholm FE. 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.

Vieira AR, Orioli IM, Castilla EE, Cooper ME, Marazita ML, Murray JC. MSX1 and TGFB3 contribute to clefting in South America. J Dent Res 82:289-292, 2003.

Murray JC. Prenatal diagnosis is for the DR, not just the OR. Am J Med Genet 120A:594- 595, 2003.

Zeng SM, Yankowitz J, Murray JC. Conjoined twins in a monozygotic triplet pregnancy: Prenatal diagnosis and X-inactivation. Teratology 66:278-281, 2002.

Suzuki OT, Sertie AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Beno MR. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible possible genetic heterogeneity in Knoblock Syndrome. Am J Hum Genet 71(6):1320-1329, 2002.

Mitchell LE, Murray JC, O'Brien S, Christensen K. 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. Epidemiology 158:69-76, 2003.

Vieira AR, Karras JC, Orioli IM, Castilla EE, Murray JC. Genetics origins in a South American clefting population. Clin Genet 62:458-463, 2002.

Mutti DO, Semina E, Marazita M, Cooper M, Murray JC, Zadnik K. Genetic loci for pathological myopia are not associated with juvenile myopia. Am J Med Genet 112:355- 360, 2002.

Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, Vindenes H, Abyholm F. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with facial clefts – a case-parent triad analysis. Genet Epidemiol 24:230-239, 2003.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, Ferreira de Lima RLL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32(2):285-289, 2002.

Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 39(8):559-66, 2002.

Vieira AR, Orioli IM, Murray JC. Maternal Age and Oral Clefts: A Reappraisal. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94(5):530-535, 2002.
Supplemental materials:
Appendix 1

Vieira AR, Trembath D, Vandyke DC, Murray JC, Marker S, Lerner G, Bonner E, Speer M. Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects. Am J Med Genet 111(2):218-219, 2002.

Barrow LL, Wines ME, Romitti PA, Holdener BC, Murray JC. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): Structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. Teratology 66(2):85-90, 2002.
Supplemental materials:
Primers

Mitchell LE, Beaty TH, Lidral AC, Munger RG, Murray JC, Saal HM, Wyszynski DF. Guidelines for the design and analysis of studies on non-syndromic cleft lip and cleft palate in humans: summary report from a workshop of The International Consortium for Oral Clefts Genetics. Cleft Palate Craniofac J 39(1):93-100, 2002.

Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 39(11):807-811, 2002.

Karplus TM, Jeronimo SM, Chang H, Helms BK, Burns TL, Murray JC, Mitchell AA, Pugh EW, Braz RF, Bezerra FL, Wilson ME. Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection. Infect Immun 70(12):6919-6925, 2002.

Murray JC. Gene/environment causes of cleft lip and/or palate. Clin Genet 61(4):248-256, 2002.

Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E. Loss of the SKI proto-oncogene in people affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat Genet 30(1):106-109, 2002.

Rasmussen SA, Lammer EJ, Shaw GM, Finnell RH, McGehee RE Jr, Gallagher M, Romitti PA, Murray JC, and National Birth Defects Prevention Study. Integration of DNA sample collection into a multi-site birth defects case-control study. Teratology 66:177-184, 2002.

Murray JC. Time for T. Nat Genet 29(2):107-109, 2001.

Murray JC. The unending string. Arch Pediatr Adolesc Med 155(11):1193-1194, 2001.

Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Gen 10(3):231-236, 2001.

Kim YJ, Williamson RA, Murray JC, Andrews J, Pietscher JJ, Peraud PJ, Merrill DC. Genetic susceptibility to preeclampsia: Roles of C677T methylenetetrahydrofolate reductase Muatation, 844 J INS 68 cystathionine b-synthase mutation, and Factor V Leiden mutation. Am J Obstet Gynecol 184(6):1211-17, 2001.

Hjalt TA, Amendt BA, Murray JC. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: Implications for the pathology of Rieger syndrome. J Cell Biol 152(3):545-552, 2001.

Green PD, Hjalt TA, Kirk, DE, Sutherland LB, Thomas BL, Sharpe PT, Snead ML, Murray JC, Russo AF, Amendt BA. Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: Implications for tooth development. Gene Expr 9(6):265-81, 2001.

Mitchell LE, Murray JC, O'Brien S, Christensen K. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. Am J Epidemiol 153(10):1007-1015, 2001.

Kim YJ, Williamson RA, Chen K, Smith JL, Murray JC, Merrill DC. Lipoprotein lipase gene mutations and susceptibility to preeclampsia. Hypertension 38(5):992-996, 2001.

Watanabe Y, Murray JC, Bjork BC, Bird CP, Chiang PW, Gregory SG, Kurnit DM, Schutte BC. Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. Hum Mutat 18(5):422-434, 2001.

Saadi I, Semina EV, Harris DJ, Murphy KP, Murray JC, Russo AF. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem 276(25): 23034-23041, 2001.

Schutte BC, Bjork BC, Coppage KB, Malik MI, Gregory SG, Scott DJ, Brentzell LM, Watanabe Y, Dixon MJ, Murray JC. A preliminary gene map for the Van der Woude Syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res 10:81-94, 2000.

Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet 9:1575-1585, 2000.

Lin AE, Semina EV, Daack-Hirsch S, Roeder ER, Curry CJR, Rosenbaum K, Weaver DD, Murray JC. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet 91:387-390, 2000.

Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Domain-specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Engelmann Disease. Nat Genet 26:19-20, 2000.

Dobbs MB, Dietz FR, Gurnett CA, Morcuende JA, Steyers CM and Murray JC. Localization of dominantly inherited isolated triphalangele thumb to chromosomal region 7q36. J Orthop Res 18:340-344, 2000.

Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics 63:289-293, 2000.

St Amand TR, Zhang Y, Semina EV, Hu Y, Nguyen L, Murray JC, Chen Y. Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth forming anlage. Dev Biol 217:323-332, 2000.

Hjalt TA, Semina ES, Amendt BA, Murray JC. The Pitx2 protein in mouse development. Dev Dyn 218:195-200, 2000.

Hjalt TA, Murray JC. The human BARX2 gene: Genomic structure, chromosomal localization, and single nucleotide polymorphisms. Genomics 62:456-459, 1999.

Fuller BP, Ellis Kahn MJ, Barr PA, Biesecker L, Crowley E, Garber J, Mansoura MK, Murphy P, Murray J, Phillips J, Rothenberg K, Rothstein M, Stopfer J, Swergold G, Weber B, Collins FS, Hudson KL. Privacy in genetics research. Science 285:1359-1361, 1999.

Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet 8:1853-1859, 1999.

Hjalt TAH, Murray JC. Genomic structure of the human retinoic acid receptor-alpha1 gene. Mamm Genome 10:528-529, 1999.

Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T, Murray JC. Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences and mutation analysis in non-syndromic cleft lip/palate and cleft palate only. Genomics 61:237-242, 1999.

Schutte BC, Basart AM, Watanabe Y, Laffin JJS, Coppage K, Bjork BC, Daack-Hirsch S, Patil S, Dixon MJ, Murray JC. Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. Am J Med Genet 84:145-150, 1999.

Trembath D, Sherbondy AL, Vandyke DC, Shaw GM, Todoroff K, Lammer EJ, Finnell RH, Marker S, Lerner G, Murray JC. Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population. Teratology 59:331-341, 1999.

Romitti PA, Lidral AC, Munger RG, Daack-Hirsch S, Burns TL and Murray JC. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. Teratology 59:39-50, 1999.

Christensen K, Olsen J, Norgaard-Pedersen B, Basso O, Stovring H, Milhollin-Johnson L, Murray JC. Oral clefts, transforming-growth-factor-alpha gene variants, and maternal smoking: A population based case-control study in Denmark 1991-1994. Am J Epidemiol 149(3):248-255, 1999.

Semina EV, Altherr MR, Murray JC. Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI. Mamm Genome 9:921-924, 1998.

Lidral AC, Romitti PA, Basart A, Doetschman T, Leysens N, Daack-Hirsch S, Semina E, Johnson L, Machida J, Burds A, Parnell T, Rubenstein JLR, Murray JC. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568, 1998.
Supplemental materials:
AFBAC Linkage Disequilibrium of TGFA, BCL3, and DLX2 (Appendix 10)
Case and Control Analysis of Two Random Markers in the Iowa Populations (Appendix 13)
DLX2 X2.2 SSCP Polymorphism (Appendix 2)
DLX2, MSX1, TGFB3 Primer Pairs (Appendix 1)
MSX1 X1.1 SSCP Variants (Appendix 3)
MSX1 X1.3 SSCP Variants (Appendix 4)
MSX1 X2.1 SSCP Variants (Appendix 5)
MSX1 X2.4 SSCP Variants (Appendix 6)
TDT Analysis of Two Random Markers in the Iowa Cleft Populations (Appendix 14)
TDT Linkage Disequilibrium of TGFA, BCL3, and DLX2 (Appendix 9)
TGFB3 5' UTR Hexanucleotide Repeat Polymorphism (Appendix 7)
TGFB3 Exon 2 Variant (Appendix 11)
TGFB3 X5.1 SSCP Variant (Appendix 8)
TGFB3 X7.1 MDE Variant (Appendix 12)

Yoshioka H, Meno C, Koshiba K, Sugihara M, Itoh H, Ishimaru Y, Inoue T, Ohuchi H, Semina EV, Murray JC, Hamada H and Noji S. Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell 94:299- 305, 1998.

El-Shanti H, Murray JC, Semina EV, Buetow KH, Scherpbier T and Al-alami J. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. Eur J Hum Genet 6:251-256, 1998.

Broman KW, Murray JC, Sheffield VC, White RL and Weber JL. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869, 1998.

Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT and Murray JC. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Genomics 54:231-240, 1998.

Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WLM, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD in humans. Nat Genet 19:167-170, 1998.

Semina EV, Reiter RS, Murray JC. A new homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. Hum Mol Genet 7:415-422, 1998.

Shaw GM, Wasserman CR, Murray JC, Lammer EJ. Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use. Cleft Palate-Craniofac J 35:366- 370, 1998.

Alward WLM, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG) gene. Am J Ophthalmol 125(1): 98-100, 1998.

Yoshiura K, Leysens NJ, Reiter R, Murray JC. Cloning, characterization, and gene mapping of the mouse homeobox gene Hmx1. Genomics 50:61-68, 1998.

Romitti PA, Munger RG, Murray JC, Daack-Hirsch S, Hanson JW, Burns TL. The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations. Eur J Epidemiol 14:129-138, 1998.

O'Brien S, Even DA, Murray JC. (Polymorphism report) Complex trinucleotide repeat polymorphism in the HOXB6 gene. Hum Mutat 9:280-281, 1997.

Kavanagh GM, Jardine PE, Peachey RD, Murray JC and De Berker D. The scleroatrophic syndrome of Huriez. Br J Dermatol 137:114-118, 1997.

Yandava CN, Gastier JM, Pulido JC, Brody T, Sheffield V, Murray J, Buetow K, and Duyk G. Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites. Genome Res 7:716-724, 1997.

Wang W, Yoshiura K, Murray J, and Lufkin T. Assignment of the murine Hmx1 homeobox gene to the proximal region of mouse chromosome 5. Mamm Genome 8:869-870, 1997.

Semina EV, Reiter RS, and Murray JC. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: Expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum Mol Genet 6:2109-2116, 1997.

Yoshiura KI, Murray JC. Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia. Genomics 45: 425-428, 1997.

Peiffer-Schneider S, Schutte BC, Murray JC, Frees KL, Williamson K, Leysens NJ, Schwartz DA. Exclusion of Ifa and Ifb as the Lps gene and mapping of three markers near the Lps locus. Mamm Genome 8:785-786, 1997.

Yoshiura K, Leysens NJ, Chang J, Ward D, Murray JC, Muenke M. Genomic structure, sequence, and mapping of human FGF8, with exclusion of its role in craniosynostosis/limb defect syndromes. Am J Med Genet 72:354-362, 1997.

Romitti PA, Burns TL, Murray JC. Maternal interview reports of family history of birth defects. Am J Med Genet 72:422-429, 1997.

Murray JC, Daack-Hirsch S, Buetow KH, Munger R, Espina L, Paglinawan N, Villanueva E, Rary J, Magee K, Magee W. Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate-Craniofac J 34:7-10, 1997.

Lidral AC, Murray JC, Buetow KH, Basart AM, Schearer H, Shiang R, Naval A, Layda E, Magee K, Magee W. Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines. Cleft Palate-Craniofac J 34:1-6, 1997.

Wyszynski DF, Maestri N, McIntosh I, Smith EA, Lewanda AF, Garcia-Delgado C, Vinageras-Guarneros E, Murray JC, Wulfsberg E, Beaty TH. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum Genet 99:22-6, 1996.

Semina EV, Reiter R, Leysens NJ, Alward WLM, Small KW, Siegle-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RGS, involved in the pathogenesis of Rieger syndrome. Nat Genet 14:392-399, 1996.

Datson NA, van Staalduinen AA, Dauwerse HG, Semina E, Meershoek EJ, Heus JJ, van Ommen G-JB, Murray JC, Frants RR, den Dunnen JT. Closing in on the Rieger syndrome gene on 4q25: Mapping translocation breakpoints within a 50-kb region. Am J Hum Genet 59:1297-1305, 1996.

Semina E, Datson N, Leysens NJ, Zabel BU, Carey JC, Bell GI, Bitoun P, Lindgren C, Stevenson T, Frants R, van Ommen G-JB, Murray JC. Exclusion of the epidermal growth factor (EGF) and high-resolution physical mapping across the Rieger syndrome locus. Am J Hum Genet 59:1288-1296, 1996.

Schutte BC, Sander A, Malik M, Murray JC. Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41. Genomics 36:507-514, 1996.

Munger RG, Romitti PA, Daack-Hirsch S, Burns TL, Murray JC, Hanson J. Maternal alcohol use and risk of orofacial cleft birth defects. Teratology 54:27-33, 1996.

Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Hum Mol Genet 5:843-847, 1996.

Gastier JM, Brody T, Pulido JC, Businga T, Sunden S, Hu X, Maitra S, Buetow KH, Murray JC, Sheffield VC, Boguski M, Duyk GM, Hudson TJ. Development of a screening set for new (CAT/CTG)n dynamic mutations. Genomics 32:75-85, 1996.

Sunden SLF, Businga T, Beck J, McClain A, Gastier JM, Pulido JC, Yandava CN, Brody T, Ghazizadeh J, Weber, JL, Duyk GM, Murray JC, Buetow KH, Sheffield VC. Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. Genomics 32:15-20, 1996.

Shaw GM, Wasserman CR, Lammer EJ, O'Malley CD, Murray JC, Basart AM, Tolarova MM. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 58:551-561, 1996.

Murray JC. Face Facts: Genes, Environment and Clefts. Am J Hum Genet 57:227-232, 1995.

Zittergruen MM, Murray JC, Lauer RM, Burns TL, Sheffield VC. Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Circulation 92:2803-2810, 1995.

Yankowitz J, Li S, Murray JC. Polymerase chain reaction determination of RhD blood type: an evaluation of accuracy. Obstet Gynecol 86(2):214-217, 1995.

Gastier JM, Pulido JC, Sunden S, Brody T, Buetow KH, Murray JC, Weber JL, Hudson TJ, Sheffield VC, Duyk GM. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum Mol Genet 4(10):1829-1836, 1995.

Crosby AH, Scherpbier-Heddema T, Wijmenga C, Altherr MR, Murray JC, Buetow KH, Dixon MJ. Genetic mapping of the dentinogenesis imperfecta type II locus. Am J Hum Genet 57:832-839, 1995.

Mears AJ, El-Shanti H, Murray JC, McDermid HE, Patil SR. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. Am J Hum Genet 57:667-673, 1995.

Mathews KD, Rapisarda D, Bailey HL, Murray JC, Schelper RL, Smith R. Phenotypic and pathologic evaluation of the myd mouse: A candidate model for facioscapulohumeral dystrophy. J Neuropathol Exp Neurol 54:601-606, 1995.

Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, Pulido JC, Yandava C, Sunden SL, Mattes G, Businga T, McClain A, Beck J, Scherpier T, Gilliam J, Zhong J, Duyk G. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4(10):1837-1844, 1995.

Crosby AH, Edwards SJ, Murray JC, Dixon MJ. Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of the dentinogenesis imperfecta type II. Genomics 27:155-160, 1995.

Stadler HS, Murray JC, Leysens NJ, Goodfellow PJ, Solursh M. Phylogenetic conservation and physical mapping of members of H6 homeobox gene family. Mamm Genome 6:383- 388, 1995.

Mills KA, Mathews KD, Scherpbier-Heddema T, Schelper RL, Schmalzel R, Bailey HL, Nadeau JH, Buetow KH, Murray JC. Genetic mapping near the myd locus on mouse chromosome 8. Mamm Genome 6:278-280, 1995.

Mathews KD, Mills KA, Bailey HL, Schelper RL, Murray JC. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q. Muscle Nerve 18(Suppl 2):S98-S102, 1995.

Wijmenga C, Dauwerse HG, Padberg GW, Meyer N, Murray JC, Mills K, van Ommen GB, Hofker MH, Frants RR. FISH mapping of 250 cosmid and 26 YAC clones to chromosome 4, with special emphasis on the FSHD region at 4q35. Muscle Nerve 18(Suppl):S14-S18, 1995.

Sander A, Murray JC, Scherpbier-Heddema T, Buetow, KH, Weissenbach J, Zingg M, Ludwig K, Schmelzle R. Microsatellite based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414. Am J Hum Genet 56:310-318, 1995.

Cox DW, Billingsley GD, Bale AE, CHLC, Donis-Keller H, Edwards JH, Litt M, McBride W, Persichetti F, Spurr NK, Weber JL, et al. CEPH consortium map of chromosome 14. Cytogenet Cell Genet 69:175-178, 1995.

Basart AM, Qian JF, May E, Murray JC. (Polymorphism report) A PCR method for detecting Taq1 polymorphism in transforming growth factor-alpha (2p13). Hum Mol Genet 3(4):678, 1994.

Sander A, Kennedy MA, Rayner JC, Murray JC. (Polymorphism report) Dinucleotide repeat polymorphism for the homeobox gene HLX1 on chromosome 1q. Hum Mol Genet 3:219, 1994.

Buetow KH, Ludwigsen S, Scherpbier-Heddema T, Quillen J, Murray JC, Sheffield VC, Duyk GM, Weber JL, Weissenback H, Gyapay G, et al. Human genetic map. Genome maps V. Wall Chart. Science 264(5181):2055-2070, Sep 30,1994.

Murray JC, Buetow KH, Weber JL, Ludwigsen S, Sherpbier-Heddema T, Manion F, Quillen J, Sheffield VC, Sunden S, Duyk GM, Weissenbach J, Gyapay G, Dib C, Morrissette J, Lathrop GM, Vignal A, White R, Matsunami N, Gerken S, Melis R, Albertsen H, Plaetke R, O A comprehensive human linkage map with centimorgan density. Science 265:2049-2054, 1994.

Detera-Wadleigh SD, Hsieh W-T, Berrettini WH, Goldin LR, Rollins DY, Muniec D, Grewal R, Guroff JJ, Turner G, Coffman D, Barrick J, Mills K, Murray J, Donohue SJ, Klein DC, Sanders J, Nurnberger JI, Gershon ES. Genetic linkage mapping for a susceptibility locus to bipolar illness: Chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22 and Xpter. Am J Med Genet (Neuropsychiatric Genet) 54:206-218, 1994.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, Hecht JT. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. Hum Mol Genet 3(5):787-792, 1994.

Muenke M, Gurrieri F, Yi DH, Bay C, Collins AL, Johnson VP, Hennekam RCM, Schaefer GB, Weik L, Lubinsky MS, Daack-Hirsch SJ, Moore CA, Dobyns WB, Murray JC, Price RA. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7q36 and evidence for genetic heterogeneity. Proc Natl Acad Sci USA 91:8102-8106, Aug. 1994.

Solursh M and Murray J. Craniofacial morphogenesis workshop report. Cleft Palate Craniofac J 31(3):230-231, 1994.

Sander A, Schmelzle R, Murray JC. Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. Hum Mol Genet 3(4):575-578, 1994.

Fan J-B, DeYoung J, Lagace R, Linda RA, Zhidong X, Murray JC, Buetow KH, Weissenbach J, Goold RD, Cox DR, Myers RM. Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4. Hum Mol Genet 3(2):243-246, 1994.

Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, Murray JC. Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 6:391-393, Apr. 1994.

Wijmenga C, Winokur ST, Padberg GW, Skraastad MI, Altherr MR, Wasmuth JJ, Murray JC, Hofker MH, Frants, RR. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. Hum Genet 92:198-203, 1993.

Bascom RA, Liu L, Humphries P, Fishman GA, Murray JC, McInnes RR. Polymorphisms and rare sequence variants at the ROM1 locus. Hum Mol Genet 2(11): 1975-1977, 1993.

Winokur ST, Bengtsson U, Feddersen J, Mathews KD, Weiffenbach B, Bailey H, Markovich RP, Murray JC, Wasmuth JJ, Altherr MR, Schutte BC. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease. Chromosome Res 2:225-234, 1994.

Shiang R, Lidral AC, Ardinger HH, Buetow KH, Romitti P, Munger R, Murray JC. Association of transforming growth factor alpha gene polymorphisms with isolated non- syndromic cleft palate (CPO). Am J Hum Genet 53:836-843, 1993.

Rebbeck TR, Dietz FR, Murray JC, Buetow KH. A single gene explanation for the probability of having idiopathic talipes equinovarus. Am J Hum Genet 53:1051-1063, 1993.

Nishimura DY, Purchio AF, Murray JC. Linkage localization of TGFB2 and the human homeobox gene HLX1 to Chromosome 1q. Genomics 15:357-364, 1993.

Mills KA, Even DA, Murray JC. (Polymorphism report) Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus. Hum Mol Genet 1(9):779, 1992.

Nishimura DY and Murray JC. (Polymorphism report) A tetranucleotide repeat for the F13B locus. Nucleic Acids Res 20:1167, 1992.

Nishimura DY, Leysens NJ, Murray JC. (Polymorphism report) A dinucleotide repeat for the D1S53 locus. Nucleic Acids Res 20:1167, 1992.

Murray J and Buetow K. The chromosome 4 workshop report. Genomics 12:857-858, 1992.

Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WLM, Weber JL, Bell GI, Buetow KH. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 2:46-49, 1992.

NIH/CEPH Consortium. A comprehensive genetic linkage map of the human genome. Science 258:67-86, Oct. 1992.

Stadler HS, Padanilam BJ, Buetow KH, Murray JC, Solursh M. Identification and genetic mapping of a novel homeobox gene to the 4p16.1 region of human chromosome 4. Proc Natl Acad Sci USA 89:11579-11583, 1992.

Bowcock AM, Barnes RI, White RL, Kruse TA, Tsipouras P, Sarfarazi M, Jenkins T, Biljoen C, Litt M, Kramer PL, Murray JC, Vergnaud G. The CEPH Consortium linkage map of human chromosome 15q. Genomics 14:833-840, 1992.

Padanilam BJ, Stadler HS, Mills KA, McLeod LB, Solursh M, Lee B, Ramirez F, Buetow KH, Murray JC. Characterization of the human HOX7 cDNA and identification of polymorphic markers. Hum Mol Genet 1(6):407-410, 1992.

Major Sleister H, Mills KA, Blackwell S, Killary AM, Murray JC, Malone RE. Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability. Nucleic Acids Res 20(13):3419-3425, 1992.

Spurr NK, Cox S, Bryant SP, Attwood J, Robson EB, Shields DC, Steinbrueck T, Jenkins T, Murray JC, Kidd KK, Summar ML, Tsipouras P, Retief AE, Kruse TA, Bale AE, Vergnaud G, Weber JL, McBride OW, Donis-Keller H, White RL. The CEPH consortium linkage map of human chromosome 2. Genomics 14:1055-1063, 1992.

Mills KA, Buetow KH, Xu Y, Weber JL, Altherr MR, Wasmuth JJ, Murray JC. Genetic and physical maps of human chromosome 4 based on dinucleotide repeats. Genomics 14:209- 219, 1992.

Crall MG, Schuler CF, Buetow KH, Murray JC. Genetic marker study of dentinogenesis imperfecta. Proc Finn Dent Soc 88(suppl 1):285-293, 1992.

Mathews KD, Mills KA, Bosch EP, Ionasescu VV, Wiles KR, Buetow KH, Murray JC. Linkage localization of facioscapulohumeral dystrophy in 4q35. Am J Hum Genet 51:428- 431, 1992.

Mills KA, Buetow KH, Xu Y, Ritty TM, Mathews KD, Bodrug SE, Wijmenga C, Balazs I, Murray JC. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for FSHD. Am J Hum Genet 51:432-439, 1992.

Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K, Murray J, Gilbert J, Pericak-Vance M, Lunt P, Frants RR, Jacobsen S, Harper PS, Padberg GW. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 51:396-403, 1992.

Wijmenga C, Sandkuijl LA, Moerer P, van der Boorn N, Bodrug SE, Ray PN, Brouwer OF, Murray JC, van Ommen GJB, Padberg GW, Frants RR. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35- qter. Am J Hum Genet 51:411-415, 1992.

Byth BC, Love DR, Murray JC, Davies KE. Localization of two new DNA markers on the linkage map of human chromosome 6q. Cytogenet Cell Genet 60:216-218, 1992.

MacDougall M, Zeichner-David M, Murray J, Crall M, Davis A, Slavkin H. Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta Types II and III. Am J Hum Genet 50:190-194, 1992.

Ritty TM, Jaye M, Kaplan R, Murray JC. (Polymorphism report) EcoRI and PvuII RFLPs in the endonexin II/Annexin V (ANX5) gene on chromosome four. Nucleic Acids Res 19(7):1723, 1991.

Miller BL, Nishimura DY, Wieben ED, Murray JC. (Polymorphism report) An EcoO109 RFLP for the SNRPE gene on chromosome 1. Nucleic Acids Res 19(7):1724, 1991.

Coleman MP, Murray JC, Willard HF, Nolan KF, Reid KBM, Blake DJ, Lindsay S, Bhattacharya SS, Wright A, Davies KE. Genetic and physical mapping around the properdin P gene. Genomics 11:991-996, 1991.

Sinsicalco M, Oberle IS, Melis P, Alhadeff B, Murray J, Filippi G, Mattioni T, Yao-Tseng CH, Furneaux H, Old LJ, Posner JB. Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site. Am J Med Genet 38:357- 362, 1991.

Buetow KH, Shiang R, Yang P, Nakamura Y, Lathrop GM, White R, Wasmuth JJ, Wood S, Berdahl LD, Leysens NJ, Ritty TM, Wise ME, Murray JC. A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates. Am J Hum Genet 48:911-925, 1991.

Tait JF, Frankenberry DA, Shiang R, Murray JC, Adler DA, Disteche CM. Chromosomal localization of the gene for annexin V (placental anticoagulant protein I). Cytogenet Cell Genet 57:187-192, 1991.

Dracopoli NC, O'Connell P, Elsner TI, Lalouel J-M, White RL, Buetow KH, Nishimura DY, Murray JC, Helms C, Mishra SK, Donis-Keller H, Hall JM, Lee MK, King M-C, Attwood J, Morton NE, Robson EB, Mahtani M, Willard HF, Royle NJ, Patel I, Jeffreys AJ, Verga V The CEPH consortium linkage map of human chromosome 1. Genomics 9:686-700, 1991.

Russo AF, Chamany K, Klemish SW, Hall TM, Murray JC. Characterization of the calcitonin/CGRP gene in Williams syndrome. Am J Med Genet 39:28-33, 1991.

Murray JC, van Ommen GB. Report of the committee on the genetic constitution of chromosome 4. Cytogenet Cell Genet 55(1-4):97-110, 1990.

Buetow KH, Nishimura D, Green P, Nakamura Y, Jiang O, Murray JC. A detailed multipoint gene map of chromosome 1q. Genomics 8:13-21, 1990.

Murray JC, Nishimura DY, Buetow KH, Ardinger HH, Spence MA, Sparkes RS, Falk RE, Falk PM, Gardner JM, Harkness EM, Glinski LP, Pauli RM, Nakamura Y, Green PP, Schinzel A. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am J Hum Genet 46:486-491, 1990.

White RL, Lalouel J-M, Nakamura Y, Donis-Keller H, Green P, Bowden DW, Mathew GP, Easton DF, Robson EB, Morton NE, Gusella JF, Haines JL, Retief AE, Kidd KK, Murray JC, Lathrop GM, Cann HM. The CEPH consortium primary linkage map of human chromosome 10. Genomics 6:393-412, 1990.

Georgiou C, Shull M, Lane LK, Lingrel JB, Murray JC. (Polymorphism report) RFLPs for ATP1BL1 on chromosome 4. Nucleic Acids Res 17:8894, 1989.

Beck JS, Sager, R, Murray JC. (Polymorphism report) A ScaI RFLP demonstrated for the GRO gene on chromosome 4. Nucleic Acids Res 17:8895, 1989.

Nishimura DY, Wieben ED, Stanford DR, Murray JC. (Polymorphism report) MspI RFLP for SNRNPE gene on 1q. Nucleic Acids Res 17:8896, 1989.

Ritty TM and Murray JC. (Polymorphism report) A new HincII RFLP for epidermal growth factor (EGF) on chromosome 4. Nucleic Acids Res 17:5870, 1989.

Leysens N, Murray JC, Bell GI. (Polymorphism report) A KpnI polymorphism for the human insulin-responsive glucose transporter gene (GLUT4) on chromosome 17. Nucleic Acids Res 17:3621, 1989.

Leysens NJ, Newkirk NG, Murray JC. (Polymorphism report) SacI and XbaI Polymorphisms detected by lipocortin 2A (LPC2A). Nucleic Acids Res 17:5417, 1989.

Mathews KD, Ardinger HH, Nishimura DY, Buetow KH, Murray JC, Bartley JA. Linkage localization of Borjeson-Forssman-Lehmann syndrome. Am J Med Genet 34:470-474, 1989.

Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet 45:348-353, 1989.

Theilmann J, Kanani S, Shiang R, Robbins G, Quarrell O, Huggins M, Hedrick M, Weber B, Collins C, Buetow KH, Murray JC, Hayden MR. Non-random association between alleles detected by D4S95 and D4S98 and the Huntington's disease gene. J Med Genet 26:676- 681, 1989.

Cox DR, Murray JC, Buetow KH. Report of the committee on the genetic constitution of chromosome 4. Cytogenet Cell Genet 51:121-136, 1989.

Buetow KH, Murray JC, Israel JL, London WT, Smith M, Kew M, Brechot C, Redeker A, Govindarajan S. Loss of heterozygosity suggests tumor suppressor gene responsible for primary hepatocellular carcinoma. Proc Natl Acad Sci USA 86:8852-8856, Nov. 1989.

Bell GI, Murray JC, Nakamura Y, Kayano T, Eddy RL, Fan Y-S, Byers MG, Shows TB. Polymorphic human insulin-responsive glucose transporter gene on chromosome 17p13. Diabetes 38(8):1072-1075, 1989.

Kittur SD, Bagdon MM, Lubs ML, Phillips III JA, Murray JC, Slaugenhaupt SA, Chakravarti A, Adler WH. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. Am J Hum Genet 44:48-50, 1989.

O'Connell P, Lathrop GM, Nakamura Y, Leppert ML, Ardinger RH, Murray JC, Lalouel JL, White R. Twenty-eight loci form a continuous linkage map of markers for human chromosome 1. Genomics 4:12-20, 1989.

Shiang R, Murray JC, Wiggs J, Dryja T. (Polymorphism report) A TaqI RFLP identified at the retinoblastoma locus on chromosome 13. Nucleic Acids Res 16:9069, 1988.

Berdahl LD, Murray JC, Besmer P. (Polymorphism report) A HindIII RFLP demonstrated for the kit oncogene on chromosome 4. Nucleic Acids Res 16:4740, 1988.

Berdahl LD, Smith RF, Murray JC, Buetow KH. (Polymorphism report) A TaqI RFLP demonstrated for pIBS17 (D4S123), a single copy sequence on chromosome 4. Nucleic Acids Res 16:2743, 1988.

Ardinger HH, Rose KM, Murray JC, Yamada Y. (Polymorphism report) HincII and KpnI RFLPs for laminin B1 (LAMB1) gene on chromosome 7. Nucleic Acids Res 16:8742, 1988.

Ardinger HH, Ardinger RH, Bell GI, Murray JC. (Polymorphism report) RFLP for the human transforming growth factor-beta1 gene (TGFB1) on chromosome 19. Nucleic Acids Res 16:8202, 1988.

Ardinger RH and Murray JC. (Polymorphism report) A BglI polymorphism for the interleukin-2 receptor gene (IL2R) on chromosome 10. Nucleic Acids Res 16:8201, 1988.

Nishimura D, Buetow KH, Yamada Y, Murray JC. RFLPs and linkage relationships of the human laminin B2 gene. Genomics 3:393-395, 1988.

Shiang R, Murray JC, Morton CC, Buetow KH, Wasmuth JJ, Olney AH, Sanger WG, Goldberger G. Mapping of the human complement factor I gene to 4q25. Genomics 4:82- 86, 1989.

Crowe RR, Tsai LY, Murray JC, Patil SR, Quinn J. A study of autism using X chromosome DNA probes. Biol Psychiatry 24:473-479, 1988.

Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Emanuel BS, Henthorn PS, Harris H. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34. Genomics 2:139-143, 1988.

Murray JC, Buetow KH, Ferrell RE, Sieberg PD, Fukuda M. An RFLP for glycophorin A (MN) is in linkage disequilibrium with MN and Ss. Cytogenet Cell Genet 47:149-151, 1988.

Murray JC, Buetow KH, Carlock L, Chakravarti A, Ferrell RF, Gedamu L, Gilliam C, Shiang R, DeHaven CR. Pairwise linkage analysis of ll markers on chromosome 4. Am J Hum Genet 42:490-497, 1988.

Smith RF, Ardinger HA, Murray JC. (Polymorphism report) Multiple RFLPs demonstrated for epidermal growth factor receptor (EGFR) on chromosome 7. Nucleic Acids Res 15:6764, 1987.

Murray JC, Smith RF, Ardinger HA, Weinberger C. (Polymorphism report) RFLP for the glucocorticoid receptor (GRL) located at 5qll-5ql3. Nucleic Acids Res 15:6765, 1987.

Carlock LR, Vo TD, DeHaven CR, Murray JC. (Polymorphism report) An anonymous genomic clone that detects a frequent RFLP adjacent to the D4S10 (G8) marker and Huntington's disease. Nucleic Acids Res 15:377, 1987.

Ionasescu V, Murray JC, Burns TL, Ionasescu R, Ferrell R, Searby C, Chirgwin J. Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I). J Neurol Sci 80:73-78, 1987.

Ferrell RE, Buetow KH, Darby JK, Eichner JE, Murray JC, Smith R, Waziri M, Huson S, Riccardi VM. Von Recklinghausen neurofibromatosis: A linkage study of candidate and random marker genes. J Med Genet 24:522-524, 1987.

Murray JC, Shiang R, Carlock LR, Smith M, Buetow K. Rapid RFLP screening procedure identifies new polymorphisms at albumin and alcohol dehydrogenase loci. Hum Genet 76:274-277, 1987.

Shows TB, Eddy RL, Byers MG, Fukushima Y, DeHaven CR, Murray JC, Bell GI. The polymorphic human glucose transporter (GLUT) gene is on chromosome lp3l.3-p35. Diabetes 36(4):546-549, Apr. 1987.

Murray JC, Buetow KH, Donovan M, Hornung S, Motulsky AG, Disteche C, Dyer K, Swisshelm K, Anderson J, Giblett E, Sadler E, Eddy R, Shows TB. Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26- 6q27. Am J Hum Genet 40:338-350, 1987.

Chance PF, Murray JC, Bird TD, Kochin R. Genetic linkage relationships of Charcot-Marie- Tooth Disease (HMSN-Ib) to chromosome 1 markers. Neurology 37(2):325-329, Feb. 1987.

Murray JC, Buetow KH, Bell GI. (Polymorphism report) RFLPs for transforming growth factor alpha (TGFA) gene at 2pl3. Nucleic Acids Res 14:7136, 1986.

Murray JC, DeHaven CR, Bell GI. (Polymorphism report) RFLPs for epidermal growth factor (EGF), a single copy sequence at 4q25-4q27. Nucleic Acids Res 14:5117, 1986.

Murph JR, Bale JF Jr, Murray JC, Stinski MF, Perlman S. Cytomegalovirus transmission in a midwest day care center: Relationship to child care and hygienic practices. J Pediatr 109(1):35-39, Jul. 1986.

Murray JC, Watanabe K, Tamaoki T, Hornung S, Motulsky A. (Polymorphism report) RFLPs for alphafetoprotein, a single copy sequence at 4qll-4ql3. Nucleic Acids Res 13:6794, 1985.

Murray JC, Johnson JA, Bird TD. Dandy-Walker Malformation: Etiologic heterogeneity and empiric recurrence risks. Clin Genet 28:272-283, 1985.

Murray JC and Pagon RA. Informed consent for research publication of patient related data. Clin Res 32:404-408, Oct, 1984.

Murray JC, Mills KA, Demopulos CM, Hornung S, Motulsky AG. Linkage disequilibrium and evolutionary relationship of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc Natl Acad Sci USA 81:3486-3490, Jun. 1984.

Murray JC, Karp LE, Williamson RA, Cheng EY, Luthy DA. Rh isoimmunization related to amniocentesis. Am J Med Genet 16:527-534, 1983.

Farquhar M, Gelinas R, Tatsis B, Murray JC, Yagi M, Mueller R, Stamatoyannopoulos G. Restriction endonuclease mapping of gamma-delta-beta globin region in G-gamma (beta+) HPFH and a Chinese A-gamma HPFH variant. Am J Hum Genet, 35:6ll-620, 1983.

Mueller RF, Murray JC, Gelinas R, Farquhar M, Papayannopulous T. Restriction endonuclease mapping of globin genomic region of HEL (Human Erythroleukemia) line. Hemoglobin 7(3):245-256, 1983.

Murray JC, Demopulos CM, Lawn RM, Motulsky AG. Molecular genetics of human serum albumin: Restriction fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci 80:5951-5955, Oct. 1983.

Projects

Victor K. Glucocorticoid Metabolism and Fetal Lung Development. Undergraduate Honors Thesis, May 2006.

Zimmerman C. Genetic Contributions to Prematurity. Undergraduate Honors Thesis, May 2006.

Hanshaw B. CHD7 Gene and Non-Syndromic Cleft Lip and Palate. Undergraduate Honors Thesis, May 2006.

Funding

NIH 1U01 HG-004423-01 Genome-wide association studies of prematurity and its complications (PI: J Murray).

NIH U10 EY-08893 Myopia Development in Children (PI: Murray, Subcontract with The University of Iowa).

MOD 6-FY08-260 Genetic Studies of Maternal/Fetal Effects in Prematurity (PI: J. Murray).

NIH P50 DE-16215 Craniofacial Anomalies Research Center (PI: J. Murray).

NIH R37 DE-08559 Molecular Genetic Epidemiology of Cleft Lip and Palate (PI: J. Murray).

NIH 5 T32 GM-08629 Predoctoral Training Program in Genetics (PI: J. Murray).

NIH 1 U01 DE017958 Oral Cleft Prevention Program (PI: J. Murray).

NIH HD-52953 Identification of Maternal and Fetal Genetic Factors in Preterm Birth (PI: J. Murray).

MOD 21-FY06-575 A Population, Genomic, and Environmental Variable Approach to Prematurity (PI: J. Murray).

NIH 2P30 EY-5605 Environmental Health Sciences Research Center (PI: P. Thorne).

U01HG-0004425/DE-18993 International Consortium to Identify Genes & Interactions Controlling Facial Clefts (PI: T. Beaty).

CDC 1R01 DD00295-01 Health outcomes and improved phenotypic characterization of cleft lip and palate (PI: G. Wehby).

NIH 1R03 TW-007644 Biochemical and Folate Pathway Gene Correlation in Orofacial Clefts (PI: T. Felix).

NIH L:2 RR 24980 and TL1 RR24981 University of Iowa Clinical and Translational Science Program (PI: G. Hunninghake, Program Director; J. Murray, Associate Director).

NIH R01 DC-07643 Genetics of Specific Language Impairment (PI: B. Tomblin, J Murray, Subcontract with Univ of Iowa).

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Clefting

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Prematurity

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Myopia

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P50 Grant Resources

Craniofacial Anomalies Research Center

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DVIN