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TY  - JOUR
AU  - Bolk, S.
TI  - A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
JO  - Proc. Natl Acad. Sci. USA
PY  - 2000///
VL  - 97
SP  - 268
EP  - 273
M3  - 10.1073/pnas.97.1.268
N1  - 10.1073/pnas.97.1.268
UR  - http://dx.doi.org/10.1073/pnas.97.1.268
ER  - 

TY  - JOUR
AU  - Gabriel, S. B.
TI  - Segregation at three loci explains familial and population risk in Hirschsprung disease
JO  - Nature Genet.
PY  - 2002///
VL  - 31
SP  - 89
EP  - 93
M3  - 10.1038/ng868
N1  - 10.1038/ng868
UR  - http://dx.doi.org/10.1038/ng868
ER  - 

TY  - GEN
AU  - Chakravarti, A.
AU  - Lyonnet, S.
TI  - The Metabolic and Molecular Bases of Inherited Disease
PY  - 2001///
ER  - 

TY  - JOUR
AU  - Carrasquillo, M. M.
TI  - Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
JO  - Nature Genet.
PY  - 2002///
VL  - 32
SP  - 237
EP  - 244
M3  - 10.1038/ng998
N1  - 10.1038/ng998
UR  - http://dx.doi.org/10.1038/ng998
ER  - 

TY  - JOUR
AU  - Borrego, S.
TI  - RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
JO  - J. Med. Genet.
PY  - 2000///
VL  - 37
SP  - 572
EP  - 578
M3  - 10.1136/jmg.37.8.572
N1  - 10.1136/jmg.37.8.572
UR  - http://dx.doi.org/10.1136/jmg.37.8.572
ER  - 

TY  - JOUR
AU  - Garcia-Barcelo, M. M.
TI  - Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
JO  - J. Med. Genet.
PY  - 2003///
VL  - 40
SP  - e122
EP  - e122
M3  - 10.1136/jmg.40.11.e122
N1  - 10.1136/jmg.40.11.e122
UR  - http://dx.doi.org/10.1136/jmg.40.11.e122
ER  - 

TY  - JOUR
AU  - Sancandi, M.
TI  - Single nucleotide polymorphic alleles in the 5[prime] region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
JO  - J. Med. Genet.
PY  - 2003///
VL  - 40
SP  - 714
EP  - 718
M3  - 10.1136/jmg.40.9.714
N1  - 10.1136/jmg.40.9.714
UR  - http://dx.doi.org/10.1136/jmg.40.9.714
ER  - 

TY  - JOUR
AU  - McCallion, A. S.
TI  - Genomic variation in multigenic traits: Hirschsprung disease
JO  - Cold Spring Harb. Symp. Quant. Biol.
PY  - 2003///
VL  - 68
SP  - 373
EP  - 381
M3  - 10.1101/sqb.2003.68.373
N1  - 10.1101/sqb.2003.68.373
UR  - http://dx.doi.org/10.1101/sqb.2003.68.373
ER  - 

TY  - JOUR
AU  - Uyama, T.
TI  - Molecular cloning and expression of a second chondroitin N-acetylgalactosaminyltransferase involved in the initiation and elongation of chondroitin/dermatan sulfate
JO  - J. Biol. Chem.
PY  - 2003///
VL  - 278
SP  - 3072
EP  - 3078
M3  - 10.1074/jbc.M209446200
N1  - 10.1074/jbc.M209446200
UR  - http://dx.doi.org/10.1074/jbc.M209446200
ER  - 

TY  - JOUR
AU  - Sato, T.
TI  - Molecular cloning and characterization of a novel human [beta]1,4-N-acetylgalactosaminyltransferase, [beta]4GalNAc-T3, responsible for the synthesis of N,N[prime]-diacetyllactosediamine, galNAc [beta]1-4GlcNAc
JO  - J. Biol. Chem.
PY  - 2003///
VL  - 278
SP  - 47534
EP  - 47544
M3  - 10.1074/jbc.M308857200
N1  - 10.1074/jbc.M308857200
UR  - http://dx.doi.org/10.1074/jbc.M308857200
ER  - 

TY  - JOUR
AU  - Spielman, R. S.
AU  - McGinnis, R. E.
AU  - Ewens, W. J.
TI  - Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)
JO  - Am. J. Hum. Genet.
PY  - 1993///
VL  - 52
SP  - 506
EP  - 516
ER  - 

TY  - JOUR
AU  - Lin, S.
AU  - Chakravarti, A.
AU  - Cutler, D. J.
TI  - Haplotype and missing data inference in nuclear families
JO  - Genome Res.
PY  - 2004///
VL  - 14
SP  - 1624
EP  - 1632
M3  - 10.1101/gr.2204604
N1  - 10.1101/gr.2204604
UR  - http://dx.doi.org/10.1101/gr.2204604
ER  - 

TY  - JOUR
AU  - Lin, S.
AU  - Chakravarti, A.
AU  - Cutler, D. J.
TI  - Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies
JO  - Nature Genet.
PY  - 2004///
VL  - 36
SP  - 1181
EP  - 1188
M3  - 10.1038/ng1457
N1  - 10.1038/ng1457
UR  - http://dx.doi.org/10.1038/ng1457
ER  - 

TY  - JOUR
AU  - Loots, G. G.
TI  - Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons
JO  - Science
PY  - 2000///
VL  - 288
SP  - 136
EP  - 140
M3  - 10.1126/science.288.5463.136
N1  - 10.1126/science.288.5463.136
UR  - http://dx.doi.org/10.1126/science.288.5463.136
ER  - 

TY  - JOUR
AU  - Thomas, J. W.
TI  - Comparative analyses of multi-species sequences from targeted genomic regions
JO  - Nature
PY  - 2003///
VL  - 424
SP  - 788
EP  - 793
M3  - 10.1038/nature01858
N1  - 10.1038/nature01858
UR  - http://dx.doi.org/10.1038/nature01858
ER  - 

TY  - JOUR
AU  - Kellis, M.
AU  - Patterson, N.
AU  - Endrizzi, M.
AU  - Birren, B.
AU  - Lander, E. S.
TI  - Sequencing and comparison of yeast species to identify genes and regulatory elements
JO  - Nature
PY  - 2003///
VL  - 423
SP  - 241
EP  - 254
M3  - 10.1038/nature01644
N1  - 10.1038/nature01644
UR  - http://dx.doi.org/10.1038/nature01644
ER  - 

TY  - JOUR
AU  - Nobrega, M.
AU  - Pennacchio, L. A.
TI  - Comparative genomic analysis as a tool for biological discovery
JO  - J. Physiol.
PY  - 2003///
VL  - 554
SP  - 31
EP  - 39
M3  - 10.1113/jphysiol.2003.050948
N1  - 10.1113/jphysiol.2003.050948
UR  - http://dx.doi.org/10.1113/jphysiol.2003.050948
ER  - 

TY  - JOUR
AU  - Bray, N.
AU  - Dubchak, I.
AU  - Pachter, L.
TI  - AVID: A global alignment program
JO  - Genome Res.
PY  - 2003///
VL  - 13
SP  - 97
EP  - 102
M3  - 10.1101/gr.789803
N1  - 10.1101/gr.789803
UR  - http://dx.doi.org/10.1101/gr.789803
ER  - 

TY  - JOUR
AU  - Margulies, E. H.
AU  - Blanchette, M.
AU  - Haussler, D.
AU  - Green, E. D.
TI  - Identification and characterization of multi-species conserved sequences
JO  - Genome Res.
PY  - 2003///
VL  - 13
SP  - 2507
EP  - 2518
M3  - 10.1101/gr.1602203
N1  - 10.1101/gr.1602203
UR  - http://dx.doi.org/10.1101/gr.1602203
ER  - 

TY  - JOUR
AU  - Shepherd, I. T.
AU  - Pietsch, J.
AU  - Elworthy, S.
AU  - Kelsh, R. N.
AU  - Raible, D. W.
TI  - Roles for GFRalpha1 receptors in zebrafish enteric nervous system development
JO  - Development
PY  - 2004///
VL  - 131
SP  - 241
EP  - 249
M3  - 10.1242/dev.00912
N1  - 10.1242/dev.00912
UR  - http://dx.doi.org/10.1242/dev.00912
ER  - 

TY  - JOUR
AU  - Shepherd, I. T.
AU  - Beattie, C. E.
AU  - Raible, D. W.
TI  - Functional analysis of zebrafish GDNF
JO  - Dev. Biol.
PY  - 2001///
VL  - 231
SP  - 420
EP  - 435
M3  - 10.1006/dbio.2000.0145
N1  - 10.1006/dbio.2000.0145
UR  - http://dx.doi.org/10.1006/dbio.2000.0145
ER  - 

TY  - JOUR
AU  - Rivas, E.
AU  - Eddy, S. R.
TI  - Noncoding RNA gene detection using comparative sequence analysis
JO  - BMC Bioinformatics
PY  - 2001///
VL  - 2
SP  - 8
EP  - 8
M3  - 10.1186/1471-2105-2-8
N1  - 10.1186/1471-2105-2-8
UR  - http://dx.doi.org/10.1186/1471-2105-2-8
ER  - 

TY  - JOUR
AU  - Shoba, T.
AU  - Dheen, S. T.
AU  - Tay, S. S.
TI  - Retinoic acid influences the expression of the neuronal regulatory genes Mash-1 and c-ret in the developing rat heart
JO  - Neurosci. Lett.
PY  - 2002///
VL  - 318
SP  - 129
EP  - 132
M3  - 10.1016/S0304-3940(01)02491-0
N1  - 10.1016/S0304-3940(01)02491-0
UR  - http://dx.doi.org/10.1016/S0304-3940(01)02491-0
ER  - 

TY  - JOUR
AU  - Batourina, E.
TI  - Vitamin A controls epithelial/mesenchymal interactions through Ret expression
JO  - Nature Genet.
PY  - 2001///
VL  - 27
SP  - 74
EP  - 78
M3  - 10.1038/83792
N1  - 10.1038/83792
UR  - http://dx.doi.org/10.1038/83792
ER  - 

TY  - JOUR
AU  - Pitera, J. E.
AU  - Smith, V. V.
AU  - Woolf, A. S.
AU  - Milla, P. J.
TI  - Embryonic gut anomalies in a mouse model of retinoic Acid-induced caudal regression syndrome: delayed gut looping, rudimentary cecum, and anorectal anomalies
JO  - Am. J. Pathol.
PY  - 2001///
VL  - 159
SP  - 2321
EP  - 2329
ER  - 

TY  - JOUR
AU  - ENCODE Project Consortium
TI  - The ENCODE (ENCyclopedia Of DNA Elements) Project
JO  - Science
PY  - 2004///
VL  - 306
SP  - 636
EP  - 640
M3  - 10.1126/science.1105136
N1  - 10.1126/science.1105136
UR  - http://dx.doi.org/10.1126/science.1105136
ER  - 

TY  - JOUR
AU  - Haldane, J. B. S.
TI  - The rate of mutation of human genes
JO  - Hereditas
PY  - 1948///
VL  - 35
SP  - 267
EP  - 273
ER  - 

TY  - JOUR
AU  - Allison, A. C.
TI  - G-6-PD deficiency in red blood cells of East Africans
JO  - Nature
PY  - 1960///
VL  - 186
SP  - 531
EP  - 532
ER  - 

TY  - JOUR
AU  - Allison, A. C.
AU  - Clyde, D. F.
TI  - Malaria in African children with deficient erythrocyte glucose-6-phosphate dehydrogenase
JO  - Br. Med. J.
PY  - 1961///
VL  - 5236
SP  - 1346
EP  - 1349
ER  - 

TY  - JOUR
AU  - Motulsky, A.
TI  - Metabolic polymorphisms and the role of infectious disease in human evolution
JO  - Hum. Biol.
PY  - 1960///
VL  - 32
SP  - 28
EP  - 62
ER  - 

TY  - JOUR
AU  - Hill, A. V.
TI  - Common west African HLA antigens are associated with protection from severe malaria
JO  - Nature
PY  - 1991///
VL  - 352
SP  - 595
EP  - 600
M3  - 10.1038/352595a0
N1  - 10.1038/352595a0
UR  - http://dx.doi.org/10.1038/352595a0
ER  - 

TY  - JOUR
AU  - Miller, L. H.
AU  - Mason, S. J.
AU  - Clyde, D. F.
AU  - McGinniss, M. H.
TI  - The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy
JO  - N. Engl. J. Med.
PY  - 1976///
VL  - 295
SP  - 302
EP  - 304
ER  - 

TY  - JOUR
AU  - Samson, M.
TI  - Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
JO  - Nature
PY  - 1996///
VL  - 382
SP  - 722
EP  - 725
M3  - 10.1038/382722a0
N1  - 10.1038/382722a0
UR  - http://dx.doi.org/10.1038/382722a0
ER  - 

TY  - JOUR
AU  - Dean, M.
TI  - Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE
JO  - Science
PY  - 1996///
VL  - 273
SP  - 1856
EP  - 1862
ER  - 

TY  - JOUR
AU  - Huang, Y.
TI  - The role of a mutant CCR5 allele in HIV-1 transmission and disease progression
JO  - Nature Med.
PY  - 1996///
VL  - 2
SP  - 1240
EP  - 1243
M3  - 10.1038/nm1196-1240
N1  - 10.1038/nm1196-1240
UR  - http://dx.doi.org/10.1038/nm1196-1240
ER  - 

TY  - JOUR
AU  - Collins, F. S.
TI  - New goals for the U.S. Human Genome Project: 1998[ndash]2003
JO  - Science
PY  - 1998///
VL  - 282
SP  - 682
EP  - 689
M3  - 10.1126/science.282.5389.682
N1  - 10.1126/science.282.5389.682
UR  - http://dx.doi.org/10.1126/science.282.5389.682
ER  - 

TY  - JOUR
AU  - Lander, E. S.
TI  - The new genomics: global views of biology
JO  - Science
PY  - 1996///
VL  - 274
SP  - 536
EP  - 539
M3  - 10.1126/science.274.5287.536
N1  - 10.1126/science.274.5287.536
UR  - http://dx.doi.org/10.1126/science.274.5287.536
ER  - 

TY  - JOUR
AU  - Falconer, D. S.
TI  - The inheritance of liability to diseases with variable age of onset, with particular reference to diabetes mellitus
JO  - Ann. Hum. Genet.
PY  - 1967///
VL  - 31
SP  - 1
EP  - 20
ER  - 

TY  - JOUR
AU  - Waterston, R. H.
TI  - Initial sequencing and comparative analysis of the mouse genome
JO  - Nature
PY  - 2002///
VL  - 420
SP  - 520
EP  - 562
M3  - 10.1038/nature01262
N1  - 10.1038/nature01262
UR  - http://dx.doi.org/10.1038/nature01262
ER  - 

TY  - JOUR
AU  - Cann, H. M.
TI  - A human genome diversity cell line panel
JO  - Science
PY  - 2002///
VL  - 296
SP  - 261
EP  - 262
M3  - 10.1126/science.296.5566.261b
N1  - 10.1126/science.296.5566.261b
UR  - http://dx.doi.org/10.1126/science.296.5566.261b
ER  - 

TY  - JOUR
AU  - Stephens, M.
AU  - Smith, N. J.
AU  - Donnelly, P.
TI  - A new statistical method for haplotype reconstruction from population data
JO  - Am. J. Hum. Genet.
PY  - 2001///
VL  - 68
SP  - 978
EP  - 989
M3  - 10.1086/319501
N1  - 10.1086/319501
UR  - http://dx.doi.org/10.1086/319501
ER  - 

TY  - JOUR
AU  - Cutler, D. J.
TI  - High-throughput variation detection and genotyping using microarrays
JO  - Genome Res.
PY  - 2001///
VL  - 11
SP  - 1913
EP  - 1925
ER  - 

