-
1
-
-
20444374342
-
ACCE: A model process for evaluating data on emerging genetic tests
-
Khoury M, Little J, Burke W, eds. Oxford: Oxford University Press
-
Haddow J, Palomaki G. ACCE: A Model Process for Evaluating Data on Emerging Genetic Tests. In Human Genome Epidemiology Khoury M, Little J, Burke W, eds. Oxford: Oxford University Press 2004:217-233.
-
(2004)
Human Genome Epidemiology
, pp. 217-233
-
-
Haddow, J.1
Palomaki, G.2
-
5
-
-
0036241260
-
Misguided efforts and future challenges for research on "diagnostic tests"
-
Feinstein AR. Misguided efforts and future challenges for research on "diagnostic tests". J Epidemiol Community Health 2002;56:330-332.
-
(2002)
J Epidemiol Community Health
, vol.56
, pp. 330-332
-
-
Feinstein, A.R.1
-
6
-
-
0029116527
-
Use of methodological standards in diagnostic test research. Getting better but still not good
-
Reid MC, Lachs MS, Feinstein AR. Use of methodological standards in diagnostic test research. Getting better but still not good. JAMA 1995;274:645-651.
-
(1995)
JAMA
, vol.274
, pp. 645-651
-
-
Reid, M.C.1
Lachs, M.S.2
Feinstein, A.R.3
-
8
-
-
16244397414
-
Evidence based diagnostics
-
Gluud C, Gluud LL. Evidence based diagnostics. BMJ 2005;330:724-726.
-
(2005)
BMJ
, vol.330
, pp. 724-726
-
-
Gluud, C.1
Gluud, L.L.2
-
9
-
-
0035928514
-
Systematic reviews in health care: Systematic reviews of evaluations of diagnostic and screening tests
-
Decks JJ. Systematic reviews in health care: Systematic reviews of evaluations of diagnostic and screening tests. BMJ 2001;323:157-162.
-
(2001)
BMJ
, vol.323
, pp. 157-162
-
-
Decks, J.J.1
-
10
-
-
0037217194
-
Towards complete and accurate reporting of studies of diagnostic accuracy: The STARD initiative
-
Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, Irwig LM, et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Clin. Chem. Lab Med 2003;41:68-73.
-
(2003)
Clin. Chem. Lab. Med.
, vol.41
, pp. 68-73
-
-
Bossuyt, P.M.1
Reitsma, J.B.2
Bruns, D.E.3
Gatsonis, C.A.4
Glasziou, P.P.5
Irwig, L.M.6
-
11
-
-
0037422764
-
The STARD statement for reporting studies of diagnostic accuracy: Explanation and elaboration
-
Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, Irwig LM et al. The STARD statement for reporting studies of diagnostic accuracy: explanation and elaboration. Ann. Intern. Med 2003;138:W1-12.
-
(2003)
Ann. Intern. Med.
, vol.138
-
-
Bossuyt, P.M.1
Reitsma, J.B.2
Bruns, D.E.3
Gatsonis, C.A.4
Glasziou, P.P.5
Irwig, L.M.6
-
12
-
-
0034685429
-
Meta-analysis of observational studies in epidemiology: A proposal for reporting. Meta-analysis of Observational Studies in Epidemiology (MOOSE) group
-
Stroup DF, Berlin JA, Morton SC, Olkin I, Williamson GD, Rennie D et al. Meta-analysis of observational studies in epidemiology: a proposal for reporting. Meta-analysis Of Observational Studies in Epidemiology (MOOSE) group. JAMA 2000;283:2008-2012.
-
(2000)
JAMA
, vol.283
, pp. 2008-2012
-
-
Stroup, D.F.1
Berlin, J.A.2
Morton, S.C.3
Olkin, I.4
Williamson, G.D.5
Rennie, D.6
-
13
-
-
0037267515
-
Hierarchy of evidence: A framework for ranking evidence evaluating healthcare interventions
-
Evans D. Hierarchy of evidence: a framework for ranking evidence evaluating healthcare interventions. J. Clin. Nurs 2003;12:77-84.
-
(2003)
J. Clin. Nurs
, vol.12
, pp. 77-84
-
-
Evans, D.1
-
14
-
-
0035849327
-
Appraising organised screening programmes for testing for genetic susceptibility to cancer
-
Goel V. Appraising organised screening programmes for testing for genetic susceptibility to cancer. BMJ 2001;322:1174-1178.
-
(2001)
BMJ
, vol.322
, pp. 1174-1178
-
-
Goel, V.1
-
15
-
-
0037217194
-
Towards complete and accurate reporting of studies of diagnostic accuracy: The STARD initiative
-
Bossuyt PM, Reitsma JB, Bruns DE, Gatsonis CA, Glasziou PP, Irwig LM et al. Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Clin. Chem. Lab Med 2003;41:68-73.
-
(2003)
Clin. Chem. Lab. Med.
, vol.41
, pp. 68-73
-
-
Bossuyt, P.M.1
Reitsma, J.B.2
Bruns, D.E.3
Gatsonis, C.A.4
Glasziou, P.P.5
Irwig, L.M.6
-
16
-
-
0034673938
-
The first positive: Computing positive predictive value at the extremes
-
Smith JE, Winkler RL, Fryback DG. The first positive: computing positive predictive value at the extremes. Ann. Intern. Med 2000;132:804-809.
-
(2000)
Ann. Intern. Med.
, vol.132
, pp. 804-809
-
-
Smith, J.E.1
Winkler, R.L.2
Fryback, D.G.3
-
17
-
-
9644289528
-
Genetic Tests and their Evaluation: Can we answer the key questions?
-
Kroese M, Zimmern RL, Sanderson SP. Genetic Tests and their Evaluation: Can we answer the key questions? Genet. Med 2004;6:475-480.
-
(2004)
Genet. Med.
, vol.6
, pp. 475-480
-
-
Kroese, M.1
Zimmern, R.L.2
Sanderson, S.P.3
-
18
-
-
0003452177
-
-
Cystic Fibrosis Genetic Analysis Consortium. Cystic Fibrosis Mutation Database. http://www.genet.sickkids.on.ca/cftr/. Accessed August 18, 2005.
-
Cystic Fibrosis Mutation Database
-
-
-
19
-
-
4644263276
-
Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
-
Palomaki GE, FitzSimmons SC, Haddow JE. Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet. Med 2004;6:405-414.
-
(2004)
Genet. Med.
, vol.6
, pp. 405-414
-
-
Palomaki, G.E.1
Fitzsimmons, S.C.2
Haddow, J.E.3
-
20
-
-
0031044749
-
Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia
-
International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques
-
Humphries SE, Gudnason V, Whittall R, Day IN. Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques. Clin. Chem 1997;43:427-435.
-
(1997)
Clin. Chem
, vol.43
, pp. 427-435
-
-
Humphries, S.E.1
Gudnason, V.2
Whittall, R.3
Day, I.N.4
-
21
-
-
0025164789
-
Evaluating diagnostic tests with imperfect standards
-
Valenstein PN. Evaluating diagnostic tests with imperfect standards. Am. J. Clin. Pathol 1990;93:252-258.
-
(1990)
Am. J. Clin. Pathol.
, vol.93
, pp. 252-258
-
-
Valenstein, P.N.1
-
22
-
-
0033619696
-
Using a combination of reference tests to assess the accuracy of a new diagnostic test
-
Alonzo TA, Pepe MS Using a combination of reference tests to assess the accuracy of a new diagnostic test. Stat. Med 1999;18:2987-3003.
-
(1999)
Stat. Med.
, vol.18
, pp. 2987-3003
-
-
Alonzo, T.A.1
Pepe, M.S.2
-
23
-
-
0023752776
-
Reference test errors bias the evaluation of diagnostic tests for ischemic heart disease
-
Boyko EJ, Alderman BW, Baron AE. Reference test errors bias the evaluation of diagnostic tests for ischemic heart disease. J. Gen. Intern. Med 1988;3:476-481.
-
(1988)
J. Gen. Intern. Med.
, vol.3
, pp. 476-481
-
-
Boyko, E.J.1
Alderman, B.W.2
Baron, A.E.3
-
24
-
-
0037103382
-
Genetic test evaluation: Information needs of clinicians, policy makers, and the public
-
Burke W, Atkins D, Gwinn M, Guttmacher A, Haddow J, Lau J et al. Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am. J. Epidemiol 2002;156:311-318.
-
(2002)
Am. J. Epidemiol.
, vol.156
, pp. 311-318
-
-
Burke, W.1
Atkins, D.2
Gwinn, M.3
Guttmacher, A.4
Haddow, J.5
Lau, J.6
-
25
-
-
0035962372
-
The complexities of predictive genetic testing
-
Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. BMJ 2001;322:1052-1056.
-
(2001)
BMJ
, vol.322
, pp. 1052-1056
-
-
Evans, J.P.1
Skrzynia, C.2
Burke, W.3
-
27
-
-
2542596905
-
Genetic testing in endocrinology: Lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2)
-
Jimenez C, Gagel RF. Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2). Growth Horm. IGF. Res. 2004;14 Suppl A:S150-157.
-
(2004)
Growth Horm. IGF. Res.
, vol.14
, Issue.SUPPL. A
-
-
Jimenez, C.1
Gagel, R.F.2
-
28
-
-
4644361735
-
Cystic fibrosis population carrier screening: 2004 Revision of American College of Medical Genetics mutation panel
-
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med 2004;6:387-391.
-
(2004)
Genet. Med.
, vol.6
, pp. 387-391
-
-
Watson, M.S.1
Cutting, G.R.2
Desnick, R.J.3
Driscoll, D.A.4
Klinger, K.5
Mennuti, M.6
-
29
-
-
0037541585
-
A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia
-
Marks D, Thorogood M, Neil HA, Humphries SE. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14.
-
(2003)
Atherosclerosis
, vol.168
, pp. 1-14
-
-
Marks, D.1
Thorogood, M.2
Neil, H.A.3
Humphries, S.E.4
-
30
-
-
0032890205
-
Mortality in treated heterozygous familial hypercholesterolaemia: Implications for clinical management
-
Scientific Steering Committee on behalf of the Simon Broome Register Group
-
Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 1999;142:105-112.
-
(1999)
Atherosclerosis
, vol.142
, pp. 105-112
-
-
-
31
-
-
0030935105
-
Genetic testing for familial hypercholesterolaemia: Practical and ethical issues
-
Humphries SE, Galton D, Nicholls P. Genetic testing for familial hypercholesterolaemia: practical and ethical issues. QJM 1997;90:169-181.
-
(1997)
QJM
, vol.90
, pp. 169-181
-
-
Humphries, S.E.1
Galton, D.2
Nicholls, P.3
-
32
-
-
9444275411
-
Ensuring the appropriate use of genetic tests
-
Burke W, Zimmern RL. Ensuring the appropriate use of genetic tests. Nat. Rev. Genet 2004;5:955-959.
-
(2004)
Nat. Rev. Genet.
, vol.5
, pp. 955-959
-
-
Burke, W.1
Zimmern, R.L.2
-
33
-
-
0035693005
-
Application of population screening principles to genetic screening for adult-onset conditions
-
Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet. Test 2001;5:201-211.
-
(2001)
Genet. Test
, vol.5
, pp. 201-211
-
-
Burke, W.1
Coughlin, S.S.2
Lee, N.C.3
Weed, D.L.4
Khoury, M.J.5
-
34
-
-
1342324892
-
Genetic information and testing in insurance and employment: Technical, social and ethical issues
-
Godard B, Raeburn S, Pembrey M, Bobrow M, Farndon P, Ayme S. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur. J. Hum. Genet. 2003;11 Suppl2:S123-142.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, Issue.SUPPL. 2
-
-
Godard, B.1
Raeburn, S.2
Pembrey, M.3
Bobrow, M.4
Farndon, P.5
Ayme, S.6
-
35
-
-
1342324899
-
Population genetic screening programmes: Principles, techniques, practices, and policies
-
Godard B, ten Kate L, Evers-Kiebooms G, Ayme S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur. J. Hum. Genet. 2003;11 Suppl 2:549-87.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, Issue.SUPPL. 2
, pp. 549-587
-
-
Godard, B.1
Ten Kate, L.2
Evers-Kiebooms, G.3
Ayme, S.4
-
36
-
-
0033577476
-
Can children and young people consent to be tested for adult onset genetic disorders?
-
Dickenson DL. Can children and young people consent to be tested for adult onset genetic disorders? BMJ 1999;318:1063-1065.
-
(1999)
BMJ
, vol.318
, pp. 1063-1065
-
-
Dickenson, D.L.1
-
38
-
-
0037164335
-
Working towards ethical management of genetic testing
-
Parker M, Lucassen A. Working towards ethical management of genetic testing. Lancet 2002;360:1685-1688.
-
(2002)
Lancet
, vol.360
, pp. 1685-1688
-
-
Parker, M.1
Lucassen, A.2
-
39
-
-
0032923257
-
Genetic testing: A conceptual exploration
-
Zimmern RL. Genetic testing: a conceptual exploration. J. Med. Ethics 1999;25:151-156.
-
(1999)
J. Med. Ethics
, vol.25
, pp. 151-156
-
-
Zimmern, R.L.1
-
40
-
-
0034770853
-
Categorizing genetic tests to identify their ethical, legal, and social implications
-
Burke W, Pinsky LE, Press NA. Categorizing genetic tests to identify their ethical, legal, and social implications. Am. J. Med. Genet 2001;106:233-240.
-
(2001)
Am. J. Med. Genet
, vol.106
, pp. 233-240
-
-
Burke, W.1
Pinsky, L.E.2
Press, N.A.3
|