-
3
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
DOI 10.1038/35057062
-
Lander ES, Linton LM, Birren B, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001;409(6822):860-921. (Pubitemid 32165345)
-
(2001)
Nature
, vol.409
, Issue.6822
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
Devon, K.7
Dewar, K.8
Doyle, M.9
Fitzhugh, W.10
Funke, R.11
Gage, D.12
Harris, K.13
Heaford, A.14
Howland, J.15
Kann, L.16
Lehoczky, J.17
Levine, R.18
McEwan, P.19
McKernan, K.20
Meldrim, J.21
Mesirov, J.P.22
Miranda, C.23
Morris, W.24
Naylor, J.25
Raymond, C.26
Rosetti, M.27
Santos, R.28
Sheridan, A.29
Sougnez, C.30
Stange-Thomann, N.31
Stojanovic, N.32
Subramanian, A.33
Wyman, D.34
Rogers, J.35
Sulston, J.36
Ainscough, R.37
Beck, S.38
Bentley, D.39
Burton, J.40
Clee, C.41
Carter, N.42
Coulson, A.43
Deadman, R.44
Deloukas, P.45
Dunham, A.46
Dunham, I.47
Durbin, R.48
French, L.49
Grafham, D.50
Gregory, S.51
Hubbard, T.52
Humphray, S.53
Hunt, A.54
Jones, M.55
Lloyd, C.56
McMurray, A.57
Matthews, L.58
Mercer, S.59
Milne, S.60
Mullikin, J.C.61
Mungall, A.62
Plumb, R.63
Ross, M.64
Shownkeen, R.65
Sims, S.66
Waterston, R.H.67
Wilson, R.K.68
Hillier, L.W.69
McPherson, J.D.70
Marra, M.A.71
Mardis, E.R.72
Fulton, L.A.73
Chinwalla, A.T.74
Pepin, K.H.75
Gish, W.R.76
Chissoe, S.L.77
Wendl, M.C.78
Delehaunty, K.D.79
Miner, T.L.80
Delehaunty, A.81
Kramer, J.B.82
more..
-
5
-
-
0035861038
-
The anatomy of the human genome: A neo-vesalian basis for medicine in the 21st century
-
Mc Kusick VA. The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century. JAMA 2001;286(18):2289-2295. (Pubitemid 33063152)
-
(2001)
Journal of the American Medical Association
, vol.286
, Issue.18
, pp. 2289-2295
-
-
McKusick, V.A.1
-
6
-
-
79951481957
-
Initial impact of the sequencing of the human genome
-
Lander ES. Initial impact of the sequencing of the human genome. Nature. 2011;470(7333):187-197.
-
(2011)
Nature.
, vol.470
, Issue.7333
, pp. 187-197
-
-
Lander, E.S.1
-
7
-
-
26444505936
-
Translational and clinical science - Time for a new vision
-
DOI 10.1056/NEJMsb053723
-
Zerhouni EA. Translational and clinical science-time for a new vision. N Engl J Med. 2005;353(15):1621-1623. (Pubitemid 41434645)
-
(2005)
New England Journal of Medicine
, vol.353
, Issue.15
, pp. 1621-1623
-
-
Zerhouni, E.A.1
-
8
-
-
65549139732
-
Genome-wide association studies of coronary artery disease and heart failure: Where are we going?
-
Dorn GW, Cresci S. Genome-wide association studies of coronary artery disease and heart failure: where are we going? Pharmacogenomics. 2009;10(2):213-223.
-
(2009)
Pharmacogenomics.
, vol.10
, Issue.2
, pp. 213-223
-
-
Dorn, G.W.1
Cresci, S.2
-
9
-
-
55249092701
-
Genomics research: World survey of public funding
-
Pohlhaus JR, Cook-Deegan RM. Genomics research: world survey of public funding. BMC Genomics. 2008;9:472-490.
-
(2008)
BMC Genomics.
, vol.9
, pp. 472-490
-
-
Pohlhaus, J.R.1
Cook-Deegan, R.M.2
-
10
-
-
84862889965
-
-
U.S. Department of Health & Human Services Accessed August 1, 2011
-
U.S. Department of Health & Human Services. Fiscal Year 2010 Bud-get in Brief: National Institutes of Health. 2010. Available at: http://dhhs.gov/ asfr/ob/docbudget/2010budgetinbriefh. html. Accessed August 1, 2011.
-
(2010)
Fiscal Year 2010 Bud-get in Brief: National Institutes of Health
-
-
-
11
-
-
0031570526
-
The clini-cal investigator: Bewitched, bothered, and bewildered-but still beloved
-
Goldstein JL, Brown MS. The clini-cal investigator: bewitched, bothered, and bewildered-but still beloved. J Clin Invest. 1997;99(12):2803-2812.
-
(1997)
J Clin Invest.
, vol.99
, Issue.12
, pp. 2803-2812
-
-
Goldstein, J.L.1
Brown, M.S.2
-
12
-
-
79951817600
-
Genomics: Deflat-ing the genomic bubble
-
Evans JP, Meslin EM, Marteau TM, Caulfield T. Genomics: deflat-ing the genomic bubble. Science. 2011;331(6019):861-862.
-
(2011)
Science.
, vol.331
, Issue.6019
, pp. 861-862
-
-
Evans, J.P.1
Meslin, E.M.2
Marteau, T.M.3
Caulfield, T.4
-
13
-
-
77951240136
-
Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: A prospective case-only study
-
Suarez-Gestal M, Perez-Pampin E, Calaza M, Gomez-Reino JJ, Gonzalez A. Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. Arthritis Res Ther. 2010;12(2):R72.
-
(2010)
Arthritis Res Ther.
, vol.12
, Issue.2
-
-
Suarez-Gestal, M.1
Perez-Pampin, E.2
Calaza, M.3
Gomez-Reino, J.J.4
Gonzalez, A.5
-
14
-
-
0042839486
-
Impact of molecular medicine on pathophysiology, medical practice, and medical education
-
Gamulin S. Impact of molecular medicine on pathophysiology, medical practice, and medical education. Croat Med J. 2003;44(4):374-385. (Pubitemid 37092796)
-
(2003)
Croatian Medical Journal
, vol.44
, Issue.4
, pp. 374-385
-
-
Gamulin, S.1
-
15
-
-
53049096244
-
Genome study of kidney disease in the age of post genome-sequencing
-
Doi K, Okamoto K, Tokunaga K, Fujita T, Noiri E. Genome study of kidney disease in the age of post genome-sequencing. Endocr Metab Immune Disord Drug Targets. 2008;8(3):173-183.
-
(2008)
Endocr Metab Immune Disord Drug Targets.
, vol.8
, Issue.3
, pp. 173-183
-
-
Doi, K.1
Okamoto, K.2
Tokunaga, K.3
Fujita, T.4
Noiri, E.5
-
16
-
-
79952544235
-
Current priorities for public health practice in addressing the role of human genomics in improving population health
-
Khoury MJ, Bowen MS, Burke W, et al. Current priorities for public health practice in addressing the role of human genomics in improving population health. Am J Prev Med. 2011;40(4):486-493.
-
(2011)
Am J Prev Med.
, vol.40
, Issue.4
, pp. 486-493
-
-
Khoury, M.J.1
Bowen, M.S.2
Burke, W.3
-
18
-
-
30544437182
-
The licensing of DNA patents by US academic institutions: An empirical survey
-
DOI 10.1038/nbt0106-31, PII NBT010631
-
Pressman L, Burgess R, Cook-Deegan RM, et al. The licensing of DNA patents by US academic institutions: an empirical survey. Nat Biotechnol. 2006;24(1):31-39. (Pubitemid 43083162)
-
(2006)
Nature Biotechnology
, vol.24
, Issue.1
, pp. 31-39
-
-
Pressman, L.1
Burgess, R.2
Cook-Deegan, R.M.3
McCormack, S.J.4
Nami-Wolk, I.5
Soucy, M.6
Walters, L.7
-
22
-
-
0041317711
-
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania
-
Morton DH, Morton CS, Strauss KA, et al. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet C Semin Med Genet. 2003;121C(1):5-17. (Pubitemid 37064087)
-
(2003)
American Journal of Medical Genetics - Seminars in Medical Genetics
, vol.121 C
, Issue.1
, pp. 5-17
-
-
Morton, D.H.1
Morton, C.S.2
Strauss, K.A.3
Robinson, D.L.4
Puffenberger, E.G.5
Hendrickson, C.6
Kelley, R.I.7
-
23
-
-
0028674811
-
Through my window- remarks at the 125th year celebration of Children's Hospital of Boston
-
Morton DH. Through my window- remarks at the 125th year celebration of Children's Hospital of Boston. Pediat-rics. 1994;94(6 pt 1):785-791.
-
(1994)
Pediat-rics.
, vol.94
, Issue.6 PART 1
, pp. 785-791
-
-
Morton, D.H.1
-
24
-
-
0026316639
-
Glutaric aciduria type I: A common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania
-
Morton DH, Bennett MJ, Seargeant LE, Nichter CA, Kelley RI. Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet. 1991;41(1):89-95.
-
(1991)
Am J Med Genet.
, vol.41
, Issue.1
, pp. 89-95
-
-
Morton, D.H.1
Bennett, M.J.2
Seargeant, L.E.3
Nichter, C.A.4
Kelley, R.I.5
-
25
-
-
0036264313
-
Diagnosis and treatment of maple syrup disease: A study of 36 patients
-
DOI 10.1542/peds.109.6.999
-
Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics. 2002;109(6):999-1008. (Pubitemid 34587423)
-
(2002)
Pediatrics
, vol.109
, Issue.6
, pp. 999-1008
-
-
Holmes Morton, D.1
Strauss, K.A.2
Robinson, D.L.3
Puffenberger, E.G.4
Kelley, R.I.5
-
26
-
-
80052548284
-
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-Co A dehydro-genase deficiency: Focus on cerebral amino acid influx
-
Strauss KA, Brumbaugh J, Duffy A, et al. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-Co A dehydro-genase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011;104(1-2):93-106.
-
(2011)
Mol Genet Metab.
, vol.104
, Issue.1-2
, pp. 93-106
-
-
Strauss, K.A.1
Brumbaugh, J.2
Duffy, A.3
-
27
-
-
79956265043
-
Classical maple syrup urine disease and brain development: Prin-ciples of management and formula design
-
Strauss KA, Wardley B, Robinson D, et al. Classical maple syrup urine disease and brain development: prin-ciples of management and formula design [published erratum appears in Mol Genet Metab. 2011;103(2):202].
-
(2011)
Mol Genet Metab.
, vol.103
, Issue.2
, pp. 202
-
-
Strauss, K.A.1
Wardley, B.2
Robinson, D.3
-
28
-
-
77649337792
-
-
Mol Genet Metab. 2010;99(4):333-345.
-
(2010)
Mol Genet Metab
, vol.99
, Issue.4
, pp. 333-345
-
-
-
29
-
-
4143125609
-
Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function
-
DOI 10.1073/pnas.0401194101
-
Puffenberger EG, Hu-Lince D, Parod JM, et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proc Natl Acad Sci U S A. 2004;101(32):11689-11694. (Pubitemid 39095357)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.32
, pp. 11689-11694
-
-
Puffenberger, E.G.1
Hu-Lince, D.2
Parod, J.M.3
Craig, D.W.4
Dobrin, S.E.5
Conway, A.R.6
Donarum, E.A.7
Strauss, K.A.8
Dunckley, T.9
Cardenas, J.F.10
Melmed, K.R.11
Wright, C.A.12
Liang, W.13
Stafford, P.14
Flynn, C.R.15
Morton, D.H.16
Stephan, D.A.17
-
30
-
-
33645415686
-
Recessive symp-tomatic focal epilepsy and mutant contactin-associated protein-like 2
-
Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symp-tomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med. 2006;354(13):1370-1377.
-
(2006)
N Engl J Med.
, vol.354
, Issue.13
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
-
31
-
-
25644438533
-
Genome-wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an old order mennonite population
-
DOI 10.1002/ajmg.a.30961
-
Strauss KA, Puffenberger EG, Craig DW, et al. Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. Am J Med Genet A. 2005;138A(3):262-267. (Pubitemid 41384244)
-
(2005)
American Journal of Medical Genetics
, vol.138 A
, Issue.3
, pp. 262-267
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Craig, D.W.3
Panganiban, C.B.4
Lee, A.M.5
Hu-Lince, D.6
Stephan, D.A.7
Morton, D.H.8
-
32
-
-
49949152171
-
Clinical application of DNA mi-croarrays: Molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency
-
Strauss KA, Puffenberger EG, Bunin N, et al. Clinical application of DNA mi-croarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency. Clin Immunol. 2008;128(1):31-38.
-
(2008)
Clin Immunol.
, vol.128
, Issue.1
, pp. 31-38
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Bunin, N.3
-
34
-
-
34248587051
-
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency
-
DOI 10.1016/j.ymgme.2007.02.012, PII S1096719207000777
-
Strauss KA, Morton DH, Puffen-berger EG, et al. Prevention of brain disease from severe 5,10-methylenetet-rahydrofolate reductase deficiency. Mol Genet Metab. 2007;91(2):165-175. (Pubitemid 46765173)
-
(2007)
Molecular Genetics and Metabolism
, vol.91
, Issue.2
, pp. 165-175
-
-
Strauss, K.A.1
Morton, D.H.2
Puffenberger, E.G.3
Hendrickson, C.4
Robinson, D.L.5
Wagner, C.6
Stabler, S.P.7
Allen, R.H.8
Chwatko, G.9
Jakubowski, H.10
Niculescu, M.D.11
Mudd, S.H.12
-
36
-
-
82955235679
-
Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
-
Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011;77(17):1629-1635.
-
(2011)
Neurology.
, vol.77
, Issue.17
, pp. 1629-1635
-
-
Michelson, D.J.1
Shevell, M.I.2
Sherr, E.H.3
Moeschler, J.B.4
Gropman, A.L.5
Ashwal, S.6
-
37
-
-
84862853944
-
Rethinking health and human rights: Time for a paradigm shift
-
In: Saussy H, ed Berkeley: Univer-sity of California Press
-
Farmer P. Rethinking health and human rights: time for a paradigm shift. In: Saussy H, ed. Partner to the Poor: A Paul Farmer Reader. Berkeley: Univer-sity of California Press; 2010:435-470.
-
(2010)
Partner to the Poor: A Paul Farmer Reader
, pp. 435-470
-
-
Farmer, P.1
-
38
-
-
41049099189
-
Global issues in medicine
-
In: Fauci AS, Kasper DL, Longo DL, et al, eds New York, NY: Mc Graw-Hill
-
Kim JY, Farmer P. Global issues in medicine. In: Fauci AS, Kasper DL, Longo DL, et al, eds. Harrison's Principles of Internal Medicine. 17th ed. New York, NY: Mc Graw-Hill; 2008:6-15.
-
(2008)
Harrison's Principles of Internal Medicine. 17th Ed
, pp. 6-15
-
-
Kim, J.Y.1
Farmer, P.2
-
39
-
-
79952187018
-
A grand challenge: Providing benefits of clinical genetics to those in need
-
Hawkins AK, Hayden MR. A grand challenge: providing benefits of clinical genetics to those in need. Genet Med. 2011;13(3):197-200.
-
(2011)
Genet Med.
, vol.13
, Issue.3
, pp. 197-200
-
-
Hawkins, A.K.1
Hayden, M.R.2
-
40
-
-
0021759628
-
Landmark article march 19, 1927: The care of the patient by Francis W Peabody
-
Peabody FW. Landmark article March 19, 1927: The care of the patient By Francis W. Peabody. JAMA 1984;252(6):813-818.
-
(1984)
JAMA
, vol.252
, Issue.6
, pp. 813-818
-
-
Peabody, F.W.1
-
41
-
-
77950538136
-
Only connect: Personal genomics and the future of American medicine
-
Angrist M. Only connect: personal genomics and the future of American medicine. Mol Diagn Ther. 2010;14(2):67-72.
-
(2010)
Mol Diagn Ther.
, vol.14
, Issue.2
, pp. 67-72
-
-
Angrist, M.1
-
42
-
-
70350351582
-
Detecting new neurodegenerative disease genes: Does phenotype accu-racy limit the horizon?
-
Samuels DC, Burn DJ, Chinnery PF. Detecting new neurodegenerative disease genes: does phenotype accu-racy limit the horizon? Trends Genet. 2009;25(11):486-488.
-
(2009)
Trends Genet.
, vol.25
, Issue.11
, pp. 486-488
-
-
Samuels, D.C.1
Burn, D.J.2
Chinnery, P.F.3
-
43
-
-
77956257911
-
The emergence of translational epidemiology: From scientific discovery to population health impact
-
Khoury MJ, Gwinn M, Ioannidis JP. The emergence of translational epidemiology: from scientific discovery to population health impact Am J Epidemiol. 2010;172(5):517-524.
-
(2010)
Am J Epidemiol.
, vol.172
, Issue.5
, pp. 517-524
-
-
Khoury, M.J.1
Gwinn, M.2
Ioannidis, J.P.3
-
44
-
-
0035806721
-
Community-based approaches to HIV treatment in resource-poor settings
-
DOI 10.1016/S0140-6736(01)05550-7
-
Farmer P, Léandre F, Mukherjee JS, et al. Community-based approaches to HIV treatment in resource-poor settings. Lancet. 2001;358(9279):404-409. (Pubitemid 32739107)
-
(2001)
Lancet
, vol.358
, Issue.9279
, pp. 404-409
-
-
Farmer, P.1
Leandre, F.2
Mukherjee, J.S.3
Claude, M.S.4
Nevil, P.5
Smith-Fawzi, M.C.6
Koenig, S.P.7
Castro, A.8
Becerra, M.C.9
Sachs, J.10
Attaran, A.11
Kim, J.Y.12
-
45
-
-
0026395243
-
Tuberculosis poverty and "compliance": Lessons from rural Haiti
-
Farmer P, Robin S, Ramilus SL, Kim JY. Tuberculosis, poverty, and "compliance": lessons from rural Haiti. Semin Respir Infect. 1991;6(4):254-260.
-
(1991)
Semin Respir Infect.
, vol.6
, Issue.4
, pp. 254-260
-
-
Farmer, P.1
Robin, S.2
Ramilus, S.L.3
Kim, J.Y.4
|