Genetic susceptibility and single-nucleotide polymorphisms

Sachidanandam, 2001, A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms, Nature, 409, 928, 10.1038/35057149

Salisbury, 2003, SNP and haplotype variation in the human genome, Mutat Res, 526, 53, 10.1016/S0027-5107(03)00014-9

Hoogendoorn, 2003, Functional analysis of human promoter polymorphisms, Hum Mol Genet, 12, 2249, 10.1093/hmg/ddg246

Liu, 2001, A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes, Nat Genet, 27, 55, 10.1038/83762

Nobrega, 2003, Scanning human gene deserts for long-range enhancers, Science, 302, 413, 10.1126/science.1088328

Cargill, 1999, Characterization of single-nucleotide polymorphisms in coding regions of human genes, Nat Genet, 22, 231, 10.1038/10290

Goldstein, 2002, Human migrations and population structure: what we know and why it matters, Annu Rev Genomics Hum Genet, 3, 129, 10.1146/annurev.genom.3.022502.103200

Gray, 2000, Single nucleotide polymorphisms as tools in human genetics, Hum Mol Genet, 9, 2403, 10.1093/hmg/9.16.2403

Reed, 1997, Evidence for a type 1 diabetes susceptibility locus (IDDM10) on human chromosome 10p11-q11, Hum Mol Genet, 6, 1011, 10.1093/hmg/6.7.1011

Cookson, 2000, Genetics of asthma and allergic disease, Hum Mol Genet, 9, 2359, 10.1093/hmg/9.16.2359

Risch, 1996, The future of genetic studies of complex human diseases, Science, 273, 1516, 10.1126/science.273.5281.1516

McGuire, 1994, Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria, Nature, 371, 508, 10.1038/371508a0

Nadel, 1996, Variation in the tumor necrosis factor-alpha gene promoter region may be associated with death from meningococcal disease, J Infect Dis, 174, 878, 10.1093/infdis/174.4.878

Negoro, 1999, Crohn's disease is associated with novel polymorphisms in the 5′-flanking region of the tumor necrosis factor gene, Gastroenterology, 117, 1062, 10.1016/S0016-5085(99)70390-2

Ozaki, 2002, Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction, Nat Genet, 32, 650, 10.1038/ng1047

de Jong, 2003, The HLA class III subregion is responsible for an increased breast cancer risk, Hum Mol Genet, 12, 2311, 10.1093/hmg/ddg245

van Sonderen, 2002, Genetic influences in respiratory distress syndrome: a twin study, Semin Perinatol, 26, 447, 10.1053/sper.2002.37315

Lofgren, 2002, Association between surfactant protein A gene locus and severe respiratory syncytial virus infection in infants, J Infect Dis, 185, 283, 10.1086/338473

Hallman, 2002, Surfactant proteins and genetic predisposition to respiratory distress syndrome, Semin Perinatol, 26, 450, 10.1053/sper.2002.37314

Ramet, 2000, Association between the surfactant protein A (SP-A) gene locus and respiratory-distress syndrome in the Finnish population, Am J Hum Genet, 66, 1569, 10.1086/302906

Parker, 1996, Evidence from twin study implies possible genetic susceptibility to bronchopulmonary dysplasia, Semin Perinatol, 20, 206, 10.1016/S0146-0005(96)80049-8

Ulgenalp, 2003, Analyses of polymorphism for UGT1*1 exon 1 promoter in neonates with pathologic and prolonged jaundice, Biol Neonate, 83, 258, 10.1159/000069487

Dizon-Townson, 2001, Preterm labour and delivery: a genetic predisposition, Paediatr Perinat Epidemiol, 15, 57, 10.1046/j.1365-3016.2001.00008.x

Wang, 2001, Molecular epidemiology of preterm delivery: methodology and challenges, Paediatr Perinat Epidemiol, 15 Suppl 2, 63, 10.1046/j.1365-3016.2001.00009.x

Harding, 2003, Is interleukin-6-174 genotype associated with the development of septicemia in preterm infants?, Pediatrics, 112, 800, 10.1542/peds.112.4.800

Wang, 2000, Genetic susceptibility to benzene and shortened gestation: evidence of gene-environment interaction, Am J Epidemiol, 152, 693, 10.1093/aje/152.8.693

Zondervan, 2004, The complex interplay among factors that influence allelic association, Nat Rev Genet, 5, 89, 10.1038/nrg1270

Ioannidis, 2001, Replication validity of genetic association studies, Nat Genet, 29, 306, 10.1038/ng749

Couzin, 2002, Human genome. HapMap launched with pledges of $100 million, Science, 298, 941, 10.1126/science.298.5595.941a

Ardlie, 2002, Patterns of linkage disequilibrium in the human genome, Nat Rev Genet, 3, 299, 10.1038/nrg777

Daly, 2001, High-resolution haplotype structure in the human genome, Nat Genet, 29, 229, 10.1038/ng1001-229

Johnson, 2001, Haplotype tagging for the identification of common disease genes, Nat Genet, 29, 233, 10.1038/ng1001-233

Ke, 2003, Efficient selective screening of haplotype tag SNPs, Bioinformatics, 19, 287, 10.1093/bioinformatics/19.2.287

Cardon, 2003, Using haplotype blocks to map human complex trait loci, Trends Genet, 19, 135, 10.1016/S0168-9525(03)00022-2

Cardon, 2003, Population stratification and spurious allelic association, Lancet, 361, 598, 10.1016/S0140-6736(03)12520-2