B. Childs (1970)
Sir Archibald Garrod's conception of chemical individuality: a modern appreciation.The New England journal of medicine, 282 2
A. Mungall, S. Palmer, S. Sims, C. Edwards, J. Ashurst, L. Wilming, M. Jones, R. Horton, S. Hunt, C. Scott, J. Gilbert, M. Clamp, G. Bethel, S. Milne, R. Ainscough, J. Almeida, K. Ambrose, T. Andrews, R. Ashwell, A. Babbage, C. Bagguley, J. Bailey, R. Banerjee, D. Barker, K. Barlow, K. Bates, D. Beare, H. Beasley, O. Beasley, C. Bird, S. Blakey, S. Bray-Allen, J. Brook, A. Brown, J. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. Carter, J. Chapman, S. Clark, G. Clark, C. Clee, S. Clegg, V. Cobley, R. Collier, J. Collins, L. Colman, N. Corby, G. Coville, K. Culley, P. Dhami, J. Davies, M. Dunn, M. Earthrowl, A. Ellington, K. Evans, L. Faulkner, M. Francis, A. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, M. Ghori, L. Gilby, C. Gillson, R. Glithero, D. Grafham, M. Grant, S. Gribble, C. Griffiths, M. Griffiths, R. Hall, K. Halls, S. Hammond, J. Harley, E. Hart, P. Heath, R. Heathcott, S. Holmes, P. Howden, K. Howe, G. Howell, E. Huckle, S. Humphray, M. Humphries, A. Hunt, C. Johnson, A. Joy, M. Kay, S. Keenan, A. Kimberley, A. King, G. Laird, C. Langford, S. Lawlor, D. Leongamornlert, M. Leversha, C. Lloyd, D. Lloyd, J. Loveland, J. Lovell, S. Martin, M. Mashreghi-mohammadi, G. Maslen, L. Matthews, O. McCann, S. McLaren, K. McLay, A. McMurray, M. Moore, J. Mullikin, D. Niblett, T. Nickerson, K. Novik, K. Oliver, E. Overton-Larty, A. Parker, R. Patel, A. Pearce, A. Peck, B. Phillimore, S. Phillips, R. Plumb, K. Porter, Y. Ramsey, S. Ranby, C. Rice, M. Ross, S. Searle, H. Sehra, E. Sheridan, C. Skuce, S. Smith, M. Smith, L. Spraggon, S. Squares, C. Steward, N. Sycamore, G. Tamlyn-Hall, J. Tester, A. Theaker, D. Thomas, A. Thorpe, A. Tracey, A. Tromans, B. Tubby, M. Wall, J. Wallis, A. West, S. White, S. Whitehead, H. Whittaker, A. Wild, D. Willey, T. Wilmer, J. Wood, P. Wray, J. Wyatt, L. Young, R. Younger, D. Bentley, A. Coulson, R. Durbin, T. Hubbard, J. Sulston, I. Dunham, J. Rogers, S. Beck (2003)
The DNA sequence and analysis of human chromosome 6Nature, 425
A. Mungall, S. Palmer, S. Sims, C. Edwards, J. Ashurst, L. Wilming, M. Jones, R. Horton, S. Hunt, C. Scott, J. Gilbert, M. Clamp, G. Bethel, S. Milne, R. Ainscough, J. Almeida, K. Ambrose, T. Andrews, R. Ashwell, A. Babbage, C. Bagguley, J. Bailey, R. Banerjee, Darren Barker, K. Barlow, K. Bates, D. Beare, H. Beasley, O. Beasley, C. Bird, S. Blakey, S. Bray-Allen, J. Brook, A. Brown, J. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. Carter, J. Chapman, S. Clark, G. Clark, C. Clee, S. Clegg, V. Cobley, R. Collier, J. Collins, L. Colman, N. Corby, G. Coville, K. Culley, P. Dhami, J. Davies, M. Dunn, M. Earthrowl, A. Ellington, K. Evans, L. Faulkner, M. Francis, A. Frankish, J. Frankland, L. French, P. Garner, J. Garnett, Mohammed Ghori, L. Gilby, C. Gillson, R. Glithero, D. Grafham, M. Grant, S. Gribble, C. Griffiths, M. Griffiths, R. Hall, K. Halls, S. Hammond, J. Harley, E. Hart, P. Heath, R. Heathcott, S. Holmes, P. Howden, K. Howe, Gareth Howell, E. Huckle, S. Humphray, M. Humphries, A. Hunt, C. Johnson, A. Joy, M. Kay, S. Keenan, A. Kimberley, A. King, G. Laird, C. Langford, S. Lawlor, D. Leongamornlert, M. Leversha, C. Lloyd, D. Lloyd, J. Loveland, J. Lovell, S. Martin, M. Mashreghi-mohammadi, G. Maslen, L. Matthews, O. McCann, S. McLaren, K. McLay, A. McMurray, M. Moore, J. Mullikin, D. Niblett, T. Nickerson, K. Novik, K. Oliver, E. Overton-Larty, Anne Parker, R. Patel, A. Pearce, A. Peck, B. Phillimore, S. Phillips, R. Plumb, K. Porter, Y. Ramsey, S. Ranby, C. Rice, M. Ross, S. Searle, H. Sehra, E. Sheridan, C. Skuce, Sarah Smith, M. Smith, L. Spraggon, S. Squares, C. Steward, N. Sycamore, G. Tamlyn-Hall, J. Tester, A. Theaker, D. Thomas, A. Thorpe, A. Tracey, A. Tromans, B. Tubby, M. Wall, J. Wallis, A. West, S. White, S. Whitehead, H. Whittaker, A. Wild, D. Willey, T. Wilmer, J. Wood, P. Wray, J. Wyatt, L. Young, R. Younger, D. Bentley, A. Coulson, R. Durbin, T. Hubbard, J. Sulston, I. Dunham, J. Rogers, Stephan Beck (2003)
DNA sequence and analysis of human chromosome 9Nature, 429
A. Beaudet (2002)
Is medical genetics neglecting epigenetics?Genetics in Medicine, 4
Hai Yan, Weishi Yuan, V. Velculescu, B. Vogelstein, K. Kinzler (2002)
Allelic Variation in Human Gene ExpressionScience, 297
Peter Jones, D. Takai (2001)
The Role of DNA Methylation in Mammalian EpigeneticsScience, 293
A. Garrod (1996)
The Incidence of Alkaptonuria: A study in Chemical IndividualityMolecular Medicine, 2
C. Scriver (2002)
Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics.The Journal of pediatrics, 140 5
J. Nathans (1994)
In the eye of the beholder: Visual pigments and inherited variation in human visionCell, 78
G. Beadle, E. Tatum (1941)
Genetic Control of Biochemical Reactions in NeurosporaProceedings of the National Academy of Sciences of the United States of America, 27
V. Cheung, R. Spielman (2002)
The genetics of variation in gene expressionNature Genetics, 32 Suppl 2
A. Wagner (2000)
Robustness against mutations in genetic networks of yeastNature Genetics, 24
Hawoong Jeong, S. Mason, A. Barabási, Z. Oltvai (2001)
Lethality and centrality in protein networksNature, 411
Hawoong Jeong, B. Tombor, Réka Albert, Z. Oltvai, A. Barabási (2000)
The large-scale organization of metabolic networksNature, 407
H. Harris (1976)
Enzyme variants in human populations.The Johns Hopkins medical journal, 138 6
H. Lo, Zhining Wang, Ying Hu, Howard Yang, Sheryl Gere, K. Buetow, M. Lee (2003)
Allelic variation in gene expression is common in the human genome.Genome research, 13 8
E. Ravasz, A. Somera, D. Mongru, Z. Oltvai, A. Barabási (2002)
Hierarchical Organization of Modularity in Metabolic NetworksScience, 297
L. Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Zhang, A. Krainer (2003)
ESEfinder: a web resource to identify exonic splicing enhancersNucleic acids research, 31 13
T. Dobzhansky (1973)
Nothing in Biology Makes Sense Except in the Light of Evolution, 75
C. Booth (1994)
Archibald Garrod and the individuality of manMedical History, 38
D. Mccormick (1986)
Sequence the Human GenomeBio/Technology, 4
L. Yushkevich (1961)
On hemoglobinopathies.Problemy gematologii i perelivaniia krovi, 6
D. Albertson, D. Pinkel (2003)
Genomic microarrays in human genetic disease and cancer.Human molecular genetics, 12 Spec No 2
C. Dulac (2000)
The Physiology of Taste, Vintage 2000Cell, 100
R. Nurtdinov, I. Artamonova, A. Mironov, M. Gelfand (2003)
Low conservation of alternative splicing patterns in the human and mouse genomes.Human molecular genetics, 12 11
S. Murphy, R. Jirtle (2003)
Imprinting evolution and the price of silence.BioEssays : news and reviews in molecular, cellular and developmental biology, 25 6
A. Feinberg, M. Oshimura, J. Barrett (2002)
Epigenetic mechanisms in human disease.Cancer research, 62 22
The (2003) The international HapMap project
O. Avery, Colin MacLeod, M. Mccarty (1995)
Studies on the Chemical Nature of the Substance Inducing Transformation of Pneumococcal TypesMolecular Medicine, 1
A. Garrod
Observations on certain pathological conditions of the blood and urine, in gout, rheumatism, and Bright's disease.Medico-chirurgical transactions, 31
(1908)
London Garrod AB (1848) Observations on certain pathological conditions of the blood and urine in gout, rheumatism and Bright's disease
H. Kitano (2002)
Looking beyond the details: a rise in system-oriented approaches in genetics and molecular biologyCurrent Genetics, 41
R. Jaenisch, A. Bird (2003)
Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signalsNature Genetics, 33 Suppl 1
A. Barabási, Maximino Aldana-Gonzales (2003)
Linked: The New Science of NetworksJournal of Artificial Societies and Social Simulation
L. Cartegni, S. Chew, A. Krainer (2002)
Listening to silence and understanding nonsense: exonic mutations that affect splicingNature Reviews Genetics, 3
(1976)
The logic of life: a history of hereditary
L. Cartegni, A. Krainer (2002)
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1Nature Genetics, 30
J. Emery, S. Hayflick (2001)
The challenge of integrating genetic medicine into primary careBMJ : British Medical Journal, 322
J. Watson, F. Crick (2004)
Molecular structure of nucleic acidsResonance, 9
C. Cooney, A. Dave, G. Wolff (2002)
Maternal methyl supplements in mice affect epigenetic variation and DNA methylation of offspring.The Journal of nutrition, 132 8 Suppl
F. Collins (1999)
Shattuck lecture--medical and societal consequences of the Human Genome Project.The New England journal of medicine, 341 1
F. Jacob (1976)
The logic of life : a history of heredity
F. Collins, E. Green, A. Guttmacher, M. Guyer (2003)
A vision for the future of genomics researchNature, 422
L. Hartwell, J. Hopfield, S. Leibler, A. Murray (1999)
From molecular to modular cell biologyNature, 402
I. Menashe, Orna Man, D. Lancet, Y. Gilad (2003)
Different noses for different peopleNature Genetics, 34
D. Albertson, C. Collins, F. McCormick, J. Gray (2003)
Chromosome aberrations in solid tumorsNature Genetics, 34
I. Sandovici, M. Leppert, P. Hawk, Alexander Suarez, Y. Linares, C. Sapienza (2003)
Familial aggregation of abnormal methylation of parental alleles at the IGF2/H19 and IGF2R differentially methylated regions.Human molecular genetics, 12 13
O. Avery, C. Macleod, M. Mccarty (1944)
STUDIES ON THE CHEMICAL NATURE OF THE SUBSTANCE INDUCING TRANSFORMATION OF PNEUMOCOCCAL TYPESThe Journal of Experimental Medicine, 79
Takashi Ito, Tomoko Chiba, Ritsuko Ozawa, Mikio Yoshida, Masahira Hattori, Y. Sakaki (2001)
A comprehensive two-hybrid analysis to explore the yeast protein interactomeProceedings of the National Academy of Sciences of the United States of America, 98
(2003)
The DNA sequence and analysis of human chromosome
B. Childs (1999)
Genetic Medicine: A Logic of Disease
J. Hartman, B. Garvik, L. Hartwell (2001)
Principles for the Buffering of Genetic VariationScience, 291
G. Wolff, R. Kodell, Stephen Moore, C. Cooney (1998)
Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a miceThe FASEB Journal, 12
H. Kitano (2002)
Systems Biology: A Brief OverviewScience, 295
M. González (1979)
[Physiology of taste].Acta oto-laryngologica, 87 3-4
D. Black (2003)
Mechanisms of alternative pre-messenger RNA splicing.Annual review of biochemistry, 72
M. Jurica, M. Moore (2003)
Pre-mRNA splicing: awash in a sea of proteins.Molecular cell, 12 1
Y. Ho, A. Gruhler, Adrian Heilbut, Gary Bader, L. Moore, S. Adams, A. Millar, Paul Taylor, K. Bennett, K. Boutilier, Lingyun Yang, Cheryl Wolting, I. Donaldson, Søren Schandorff, Juanita Shewnarane, M. Võ, Joanne Taggart, Marilyn Goudreault, B. Muskat, C. Alfarano, D. Dewar, Zhen-Liang Lin, K. Michalickova, A. Willems, Holly Sassi, P. Nielsen, K. Rasmussen, J. Andersen, L. Johansen, L. Hansen, H. Jespersen, A. Podtelejnikov, E. Nielsen, Janne Crawford, Vibeke Poulsen, B. Sørensen, Jesper Matthiesen, Ronald Hendrickson, F. Gleeson, T. Pawson, M. Moran, D. Durocher, M. Mann, C. Hogue, D. Figeys, M. Tyers (2002)
Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometryNature, 415
M. Foster, R. Sharp (2000)
Genetic research and culturally specific risks: one size does not fit all.Trends in genetics : TIG, 16 2
J. Goldstein, M. Brown (1997)
The clinical investigator: bewitched, bothered, and bewildered--but still beloved.The Journal of clinical investigation, 99 12
U. Mansmann (2005)
Genomic ProfilingMethods of Information in Medicine, 44
L. Gardner (1981)
Human Genetics: Problems and ApproachesJAMA Pediatrics, 135
A. Gavin, M. Bösche, R. Krause, P. Grandi, M. Marzioch, A. Bauer, J. Schultz, Jens Rick, A. Michon, Cristina Cruciat, M. Remor, Christian Höfert, Malgorzata Schelder, Miro Brajenovic, H. Ruffner, Alejandro Merino, Karin Klein, Manuela Hudak, David Dickson, T. Rudi, V. Gnau, A. Bauch, Sonja Bastuck, B. Huhse, C. Leutwein, Marie-Anne Heurtier, R. Copley, A. Edelmann, Erich Querfurth, V. Rybin, G. Drewes, M. Raida, T. Bouwmeester, P. Bork, B. Séraphin, B. Kuster, G. Neubauer, G. Superti-Furga (2002)
Functional organization of the yeast proteome by systematic analysis of protein complexesNature, 415
The Consortium, V. Cheung, N. Nowak, W. Jang, I. Kirsch, S. Zhao, X.-N. Chen, T. Furey, U. Kim, W. Kuo, M. Olivier, J. Conroy, A. Kasprzyk, H. Massa, R. Yonescu, S. Sait, C. Thoreen, A. Snijders, E. Lemyre, J. Bailey, A. Bruzel, W. Burrill, S. Clegg, S. Collins, P. Dhami, C. Friedman, C. Han, S. Herrick, J. Lee, A. Ligon, S. Lowry, M. Morley, S. Narasimhan, K. Osoegawa, Z. Peng, I. Plajzer-Frick, B. Quade, D. Scott, K. Sirotkin, A. Thorpe, J. Gray, J. Hudson, D. Pinkel, T. Ried, L. Rowen, G. Shen-Ong, R. Strausberg, E. Birney, D. Callen, J. Cheng, D. Cox, N. Doggett, N. Carter, E. Eichler, D. Haussler, J. Korenberg, C. Morton, D. Albertson, G. Schuler, P. Jong, B. Trask (2001)
Integration of cytogenetic landmarks into the draft sequence of the human genomeNature, 409
G. Beadle (1959)
Genes and chemical reactions in Neurospora.Science, 129 3365
J. Watson, F. Crick (1953)
Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic AcidNature, 171
(2002)
Systematic identification of protein
Toshihiro Tanaka (2003)
The International HapMap ProjectNature, 426
(2000)
Error and attack
E. Clayton (2003)
Ethical, legal, and social implications of genomic medicine.The New England journal of medicine, 349 6
T. Ideker, V. Thorsson, J. Ranish, R. Christmas, J. Buhler, J. Eng, Roger Bumgarner, D. Goodlett, R. Aebersold, L. Hood (2001)
Integrated genomic and proteomic analyses of a systematically perturbed metabolic network.Science, 292 5518
U. Kim, E. Jorgenson, H. Coon, M. Leppert, N. Risch, D. Drayna (2003)
Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to PhenylthiocarbamideScience, 299
A. Gavin, P. Grandi, Markus Boesche, R. Krause, C. Leutwein, B. Kuster, G. Superti-Furga (2002)
Functional organization of the yeast proteome by systemic analysis of protein complexes, 2002
J. Pereira, Sons. si (2002)
Linked: The new science of networks
International Consortium (2001)
Initial sequencing and analysis of the human genomeNature, 409
G. Beadle (1959)
Genes and Chemical Reactions in Neurospora: The concepts of biochemical genetics began with Garrod's "inborn errors" and have evolved graduallyScience, 129
S. Haga, M. Khoury, W. Burke (2003)
Genomic profiling to promote a healthy lifestyle: not ready for prime timeNature Genetics, 34
L. Dunn (1962)
Cross currents in the history of human genetics.The Eugenics review, 54 2
C. Scriver (2001)
The Metabolic and Molecular Bases of Inherited Disease
P. Uetz, L. Giot, G. Cagney, T. Mansfield, R. Judson, James Knight, D. Lockshon, Vaibhav Narayan, Maithreyan Srinivasan, P. Pochart, Alia Qureshi-Emili, Ying Li, B. Godwin, D. Conover, T. Kalbfleisch, G. Vijayadamodar, Meijia Yang, M. Johnston, S. Fields, J. Rothberg (2000)
A comprehensive analysis of protein–protein interactions in Saccharomyces cerevisiaeNature, 403
R. Lewontin (1974)
The problem of genetic diversity.Harvey lectures, 70 Series
R. Kohler (1995)
Lords of the fly: Drosophila genetics and the experimental life.
A. Garrod (1931)
The Inborn Factors In Disease
(2000)
The physiology of taste, vintage
M. Halushka, Jian-Bing Fan, Kimberly Bentley, L. Hsie, Naiping Shen, A. Weder, R. Cooper, R. Lipshutz, A. Chakravarti (1999)
Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasisNature Genetics, 22
M. Cargill, D. Altshuler, J. Ireland, P. Sklar, K. Ardlie, N. Patil, C. Lane, Esther Lim, Nilesh Kalyanaraman, J. Nemesh, L. Ziaugra, L. Friedland, A. Rolfe, J. Warrington, R. Lipshutz, G. Daley, E. Lander (1999)
Characterization of single-nucleotide polymorphisms in coding regions of human genesNature Genetics, 22
Marcelo Nóbrega, I. Ovcharenko, Veena Afzal, E. Rubin (2003)
Scanning Human Gene Deserts for Long-Range EnhancersScience, 302
(2002)
Functional organization of the yeast
R. Albert, Hawoong Jeong, A. Barabási (2000)
Error and attack tolerance of complex networksNature, 406
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