-
1
-
-
2042437650
-
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome
-
Lander ES, Linton LM, Birren B, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature. 2001. 409. 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
3
-
-
60549083544
-
An open access database of genome-wide association results
-
Johnson AD, O'Donnell CJ. An open access database of genome-wide association results. BMC Med Genet 2009;10:6.
-
(2009)
BMC Med Genet
, vol.10
, pp. 6
-
-
Johnson, A.D.1
O'Donnell, C.J.2
-
4
-
-
33745905942
-
The incidentalome: A threat to genomic medicine
-
Kohane IS, Masys DR, Altman RB. The incidentalome: a threat to genomic medicine. J Am Med Assoc 2006;296:212-215.
-
(2006)
J Am Med Assoc
, vol.296
, pp. 212-215
-
-
Kohane, I.S.1
Masys, D.R.2
Altman, R.B.3
-
5
-
-
44949211505
-
Managing incidental findings in human subjects research: Analysis and recommendations
-
Wolf SM, Lawrenz FP, Nelson CA, et al. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics 2008;36:219-248.
-
(2008)
J Law Med Ethics
, vol.36
, pp. 219-248
-
-
Wolf, S.M.1
Lawrenz, F.P.2
Nelson, C.A.3
-
6
-
-
33646254125
-
NHLBI Working Group. Reporting genetic results in research studies: Summary and recommendations of an NHLBI working group
-
Bookman EB, Langehorne AA, Eckfeldt JH, et al; NHLBI Working Group. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A 2006;140:1033-1040.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1033-1040
-
-
Bookman, E.B.1
Langehorne, A.A.2
Eckfeldt, J.H.3
-
7
-
-
3543141747
-
Informed consent and biobanks: A population-based study of attitudes towards tissue donation for genetic research
-
Hoeyer K, Olofsson BO, Mjorndal T, Lynoe N. Informed consent and biobanks: a population-based study of attitudes towards tissue donation for genetic research. Scand J Public Health 2004;32:224-229.
-
(2004)
Scand J Public Health
, vol.32
, pp. 224-229
-
-
Hoeyer, K.1
Olofsson, B.O.2
Mjorndal, T.3
Lynoe, N.4
-
8
-
-
77956341799
-
Donors perceptions of consent to and feedback from biobank research: Time to acknowledge diversity?
-
[Published online ahead of print November 26 2009.]
-
Hoeyer K. Donors perceptions of consent to and feedback from biobank research: time to acknowledge diversity? [Published online ahead of print November 26, 2009.] Public Health Genomics.
-
Public Health Genomics
-
-
Hoeyer, K.1
-
9
-
-
45549101363
-
Keeping pace with the times\the Genetic Information Nondiscrimination Act of 2008
-
Hudson KL, Holohan MK, Collins FS. Keeping pace with the times\the Genetic Information Nondiscrimination Act of 2008. N Engl J Med 2008; 358:2661-2663.
-
(2008)
N Engl J Med
, vol.358
, pp. 2661-2663
-
-
Hudson, K.L.1
Holohan, M.K.2
Collins, F.S.3
-
10
-
-
69549122599
-
Direct to consumer genetic testing: Avoiding a culture war
-
Evans JP, Green RC. Direct to consumer genetic testing: avoiding a culture war. Genet Med 2009;11:568-569.
-
(2009)
Genet Med
, vol.11
, pp. 568-569
-
-
Evans, J.P.1
Green, R.C.2
-
11
-
-
57249114505
-
SNAP: A web-based tool for identification and annotation of proxy SNPs using HapMap
-
Johnson AD, Handsaker RE, Pulit SL, Nizzari MM, O'Donnell CJ, de Bakker PI. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008;24:2938-2939.
-
(2008)
Bioinformatics
, vol.24
, pp. 2938-2939
-
-
Johnson, A.D.1
Handsaker, R.E.2
Pulit, S.L.3
Nizzari, M.M.4
O'Donnell, C.J.5
De Bakker, P.I.6
-
12
-
-
77949889813
-
Single-nucleotide polymorphism bioinformatics: A comprehensive review of resources
-
Johnson AD. Single-nucleotide polymorphism bioinformatics: a comprehensive review of resources. Circ Cardiovasc Genet 2009;2:530-536.
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 530-536
-
-
Johnson, A.D.1
-
13
-
-
0000035247
-
An approach to longitudinal studies in a community: The Framingham Study
-
Dawber TR, Kannel WB, Lyell LP. An approach to longitudinal studies in a community: the Framingham Study. Ann N Y Acad Sci 1963;107:539-556.
-
(1963)
Ann N y Acad Sci
, vol.107
, pp. 539-556
-
-
Dawber, T.R.1
Kannel, W.B.2
Lyell, L.P.3
-
14
-
-
0018612858
-
An investigation of coronary heart disease in families. The Framingham offspring study
-
Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP. An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol 1979;110:281-290.
-
(1979)
Am J Epidemiol
, vol.110
, pp. 281-290
-
-
Kannel, W.B.1
Feinleib, M.2
McNamara, P.M.3
Garrison, R.J.4
Castelli, W.P.5
-
15
-
-
34247579476
-
The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: Design, recruitment, and initial examination
-
Splansky GL, Corey D, Yang Q, et al. The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: design, recruitment, and initial examination. Am J Epidemiol 2007;165:1328-1335.
-
(2007)
Am J Epidemiol
, vol.165
, pp. 1328-1335
-
-
Splansky, G.L.1
Corey, D.2
Yang, Q.3
-
16
-
-
37549064336
-
MACH 1.0: Rapid haplotype reconstruction and missing genotype inference
-
Li Y, Abecasis G. MACH 1.0: rapid haplotype reconstruction and missing genotype inference. Am J Hum Genet 2006;S79:2290.
-
(2006)
Am J Hum Genet
, vol.S79
, pp. 2290
-
-
Li, Y.1
Abecasis, G.2
-
17
-
-
36248994812
-
Cystathionine betasynthase and MTHFR deficiencies in adults
-
Cohen AF, Sedel F, Papo T. Cystathionine betasynthase and MTHFR deficiencies in adults. Rev Neurol (Paris) 2007;163:904-910.
-
(2007)
Rev Neurol (Paris)
, vol.163
, pp. 904-910
-
-
Cohen, A.F.1
Sedel, F.2
Papo, T.3
-
18
-
-
0037082463
-
A single mutation 202GA in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself
-
Hirono A, Kawate K, Honda A, Fujii H, Miwa S. A single mutation 202GA in the human glucose-6-phosphate dehydrogenase gene (G6PD) can cause acute hemolysis by itself. Blood 2002;99:1498.
-
(2002)
Blood
, vol.99
, pp. 1498
-
-
Hirono, A.1
Kawate, K.2
Honda, A.3
Fujii, H.4
Miwa, S.5
-
19
-
-
0026879729
-
Both mutations in G6PD A-are necessary to produce the G6PD deficient phenotype
-
Town M, Bautista JM, Mason PJ, Luzzatto L. Both mutations in G6PD A-are necessary to produce the G6PD deficient phenotype. Hum Mol Genet 1992;1:171-174.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 171-174
-
-
Town, M.1
Bautista, J.M.2
Mason, P.J.3
Luzzatto, L.4
-
20
-
-
18244429610
-
Mutation and haplotype studies in familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
-
Askentijevich I, Torosyan Y, Samuels J, et al. Mutation and haplotype studies in familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999;64:949-962.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 949-962
-
-
Askentijevich, I.1
Torosyan, Y.2
Samuels, J.3
-
21
-
-
0033362158
-
MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype\genetic and therapeutic implications
-
Cazeneuve C, Sarkisian T, Pecheux C, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype\genetic and therapeutic implications. Am J Hum Genet 1999; 65:88-97.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 88-97
-
-
Cazeneuve, C.1
Sarkisian, T.2
Pecheux, C.3
-
22
-
-
0034879132
-
The spectrum of familial Mediterranean fever (FMF) mutations
-
Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001;9:473-483.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 473-483
-
-
Touitou, I.1
-
23
-
-
52049116743
-
Familial Mediterranean Fever in Armenian population
-
Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A. Familial Mediterranean Fever in Armenian population. Georgian Med News 2008;156:105-111.
-
(2008)
Georgian Med News
, vol.156
, pp. 105-111
-
-
Sarkisian, T.1
Ajrapetian, H.2
Beglarian, A.3
Shahsuvarian, G.4
Egiazarian, A.5
-
24
-
-
17844404255
-
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia
-
Robins T, Barbaro M, Lajic S, Wedell A. Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. J Clin Endocrinol Metab 2005;90:2148-2153.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2148-2153
-
-
Robins, T.1
Barbaro, M.2
Lajic, S.3
Wedell, A.4
-
27
-
-
33645729527
-
Risk of recurrent venous thromboembolism in patients with common thrombophilia: A systematic review
-
Ho WK, Hankey GJ, Quinlan DJ, Eikelboorn JW. Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med 2006;166:729-736.
-
(2006)
Arch Intern Med
, vol.166
, pp. 729-736
-
-
Ho, W.K.1
Hankey, G.J.2
Quinlan, D.J.3
Eikelboorn, J.W.4
-
28
-
-
0036881044
-
Clinical utility of factor v leiden (R506Q) testing for the diagnosis and management of thromboem-bolic disorders
-
Press RD, Bauer KA, Kujovich JL, Heit JA. Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboem-bolic disorders. Arch Pathol Lab Med 2002;126:1304-1318.
-
(2002)
Arch Pathol Lab Med
, vol.126
, pp. 1304-1318
-
-
Press, R.D.1
Bauer, K.A.2
Kujovich, J.L.3
Heit, J.A.4
-
29
-
-
0037431013
-
PREVENT Investigators. Long-term, low-intensity warfarin therapy for the prevention of recurrent venous thromboembolism
-
Ridker PM, Goldhaber SZ, Danielson E, et al; PREVENT Investigators. Long-term, low-intensity warfarin therapy for the prevention of recurrent venous thromboembolism. N Engl J Med 2003;348:1425-1434.
-
(2003)
N Engl J Med
, vol.348
, pp. 1425-1434
-
-
Ridker, P.M.1
Goldhaber, S.Z.2
Danielson, E.3
-
30
-
-
20244372858
-
Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochroma-tosis and iron-overload screening in a racially diverse population
-
Adams PC, Reboussin DM, Barton JC, et al; Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochroma-tosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-1778.
-
(2005)
N Engl J Med
, vol.352
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
-
31
-
-
0029913626
-
Long-term survival in patients with hereditary hemochromatosis
-
Niederau C, Fischer R, Purschel A, Stremmel W, Häussinger D, Strohm-eyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110:1107-1119.
-
(1996)
Gastroenterology
, vol.110
, pp. 1107-1119
-
-
Niederau, C.1
Fischer, R.2
Purschel, A.3
Stremmel, W.4
Häussinger, D.5
Strohm-Eyer, G.6
-
32
-
-
33845468948
-
Best practice guidelines for the molecular genetic diagnosis of Type i (HFE-related) hereditary hemochromatosis
-
King C, Barton DE. Best practice guidelines for the molecular genetic diagnosis of Type I (HFE-related) hereditary hemochromatosis. BMC Med Genet 2006;7:81.
-
(2006)
BMC Med Genet
, vol.7
, pp. 81
-
-
King, C.1
Barton, D.E.2
-
33
-
-
44949095629
-
Understanding incidental findings in the context of genetics and genomics
-
Cho MK. Understanding incidental findings in the context of genetics and genomics. J Law Med Ethics 2008;36:280-285.
-
(2008)
J Law Med Ethics
, vol.36
, pp. 280-285
-
-
Cho, M.K.1
-
34
-
-
44949084674
-
Genomic research and incidental findings
-
Van Ness B. Genomic research and incidental findings. J Law Med Ethics 2008;36:292-297.
-
(2008)
J Law Med Ethics
, vol.36
, pp. 292-297
-
-
Van Ness, B.1
-
35
-
-
41149120561
-
A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions
-
Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet 2008;82:593-599.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 593-599
-
-
Janssens, A.C.1
Gwinn, M.2
Bradley, L.A.3
Oostra, B.A.4
Van Duijn, C.M.5
Khoury, M.J.6
-
36
-
-
0037326103
-
Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study
-
Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003;88:622-626.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 622-626
-
-
Bojesen, A.1
Juul, S.2
Gravholt, C.H.3
-
37
-
-
43049146524
-
A HapMap harvest of insights into the genetics of common disease
-
Manolio TA, Brooks LD, Collins FS. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 2008;118:1590-1605.
-
(2008)
J Clin Invest
, vol.118
, pp. 1590-1605
-
-
Manolio, T.A.1
Brooks, L.D.2
Collins, F.S.3
|