-
1
-
-
84862909349
-
Five years of GWAS discovery
-
Visscher PM, Brown MA, McCarthy MI, Yang J. Five years of GWAS discovery. Am J Human Genet. 2012;90(1):7-24.
-
(2012)
Am J Human Genet
, vol.90
, Issue.1
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
2
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337(6090):64-9.
-
(2012)
Science
, vol.337
, Issue.6090
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
-
3
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 People
-
Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, et al. An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People. Science. 2012.
-
(2012)
Science
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
Kessner, D.4
St Jean, P.5
Verzilli, C.6
-
4
-
-
78650037203
-
Deep resequencing reveals excess rare recent variants consistent with explosive population growth
-
Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, et al. Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun. 2010;1(131.
-
(2010)
Nat Commun
, vol.1
, Issue.131
-
-
Coventry, A.1
Bull-Otterson, L.M.2
Liu, X.3
Clark, A.G.4
Maxwell, T.J.5
Crosby, J.6
-
5
-
-
84862683078
-
The centers for mendelian genomics: A new large-scale initiative to identify the genes underlying rare mendelian conditions
-
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, et al. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet Part A. 2012;158A(7):1523-5.
-
(2012)
Am J Med Genet Part A
, vol.158 A
, Issue.7
, pp. 1523-1525
-
-
Bamshad, M.J.1
Shendure, J.A.2
Valle, D.3
Hamosh, A.4
Lupski, J.R.5
Gibbs, R.A.6
-
6
-
-
84905739414
-
Medical genomics: Gather and use genetic data in health care
-
Ginsburg G. Medical genomics: Gather and use genetic data in health care. Nature. 2014;508(7497):451-3.
-
(2014)
Nature
, vol.508
, Issue.7497
, pp. 451-453
-
-
Ginsburg, G.1
-
7
-
-
84901056617
-
Genomics and personalized medicine
-
Mooser V. Genomics and personalized medicine. Praxis. 2014;103(10):567-71.
-
(2014)
Praxis
, vol.103
, Issue.10
, pp. 567-571
-
-
Mooser, V.1
-
8
-
-
84890107642
-
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
-
Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013;31(12):1102-10.
-
(2013)
Nat Biotechnol
, vol.31
, Issue.12
, pp. 1102-1110
-
-
Denny, J.C.1
Bastarache, L.2
Ritchie, M.D.3
Carroll, R.J.4
Zink, R.5
Mosley, J.D.6
-
9
-
-
33845903833
-
Drugs for bad bugs: Confronting the challenges of antibacterial discovery
-
Payne DJ, Gwynn MN, Holmes DJ, Pompliano DL. Drugs for bad bugs: confronting the challenges of antibacterial discovery. Nat Rev Drug Discov. 2007;6(1):29-40.
-
(2007)
Nat Rev Drug Discov
, vol.6
, Issue.1
, pp. 29-40
-
-
Payne, D.J.1
Gwynn, M.N.2
Holmes, D.J.3
Pompliano, D.L.4
-
10
-
-
84866737569
-
Personalized medicine using DNA biomarkers: A review
-
Ziegler A, Koch A, Krockenberger K, Grosshennig A. Personalized medicine using DNA biomarkers: a review. Hum Genet. 2012;131(10):1627-38.
-
(2012)
Hum Genet
, vol.131
, Issue.10
, pp. 1627-1638
-
-
Ziegler, A.1
Koch, A.2
Krockenberger, K.3
Grosshennig, A.4
-
11
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet. 2005;37(2):161-5.
-
(2005)
Nat Genet
, vol.37
, Issue.2
, pp. 161-165
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
Graham, R.4
Garcia, C.K.5
Hobbs, H.H.6
-
12
-
-
42649139571
-
Genome-wide association analysis identifies 20 loci that influence adult height
-
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, et al. Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet. 2008;40(5):575-83.
-
(2008)
Nat Genet
, vol.40
, Issue.5
, pp. 575-583
-
-
Weedon, M.N.1
Lango, H.2
Lindgren, C.M.3
Wallace, C.4
Evans, D.M.5
Mangino, M.6
-
13
-
-
84871326497
-
Effect of a monoclonal antibody to PCSK9 on low-density lipoprotein cholesterol levels in statin-intolerant patients: The GAUSS ran-domized trial
-
Sullivan D, Olsson AG, Scott R, Kim JB, Xue A, Gebski V, et al. Effect of a Monoclonal Antibody to PCSK9 on Low-Density Lipoprotein Cholesterol Levels in Statin-Intolerant Patients: The GAUSS Ran-domized Trial. JAMA: the journal of the American Medical Association. 2012:1-10.
-
(2012)
JAMA: The journal of the American Medical Association
, pp. 1-10
-
-
Sullivan, D.1
Olsson, A.G.2
Scott, R.3
Kim, J.B.4
Xue, A.5
Gebski, V.6
-
14
-
-
84865429505
-
A personal view on systems medicine and the emergence of proactive P4 medicine: Predictive, preventive, personalized and participatory
-
Hood L, Flores M. A personal view on systems medicine and the emergence of proactive P4 medicine: predictive, preventive, personalized and participatory. New biotechnology. 2012;29(6):613-24.
-
(2012)
New Biotechnology
, vol.29
, Issue.6
, pp. 613-624
-
-
Hood, L.1
Flores, M.2
-
15
-
-
41849144111
-
The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine
-
Elliott P, Peakman TC, Biobank UK. The UK Biobank sample handling and storage protocol for the collection, processing and archiving of human blood and urine. Int J Epidemiol. 2008;37(2):234-44.
-
(2008)
Int J Epidemiol
, vol.37
, Issue.2
, pp. 234-244
-
-
Elliott, P.1
Peakman, T.C.2
Biobank, U.K.3
-
16
-
-
42449133365
-
The CoLaus study: A population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome
-
Firmann M, Mayor V, Vidal PM, Bochud M, Pecoud A, Hayoz D, et al. The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome. BMC Cardiovasc Disord. 2008;8:6.
-
(2008)
BMC Cardiovasc Disord
, vol.8
, pp. 6
-
-
Firmann, M.1
Mayor, V.2
Vidal, P.M.3
Bochud, M.4
Pecoud, A.5
Hayoz, D.6
-
17
-
-
84986907541
-
Sequencing the human genome and society
-
Maillard PY. Sequencing the human genome and society. Praxis. 2014;103(10):551-3.
-
(2014)
Praxis
, vol.103
, Issue.10
, pp. 551-553
-
-
Maillard, P.Y.1
-
18
-
-
84901016550
-
Ethical and social issues associated with genomic medicine
-
Barazzetti G, Kaufmann A, and Benaroyo L. Ethical and social issues associated with genomic medicine. Praxis. 2014;103(10):573-7.
-
(2014)
Praxis
, vol.103
, Issue.10
, pp. 573-577
-
-
Barazzetti, G.1
Kaufmann, A.2
Benaroyo, L.3
-
19
-
-
84901007775
-
Patient privacy in the genomic era
-
Raisaro JL, Ayday E, Hubaux JP. Patient privacy in the genomic era. Praxis. 2014;103(10):579-86.
-
(2014)
Praxis
, vol.103
, Issue.10
, pp. 579-586
-
-
Raisaro, J.L.1
Ayday, E.2
Hubaux, J.P.3
-
20
-
-
77955505564
-
Biological, clinical and population relevance of 95 loci for blood lipids
-
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010;466(7307):707-13.
-
(2010)
Nature
, vol.466
, Issue.7307
, pp. 707-713
-
-
Teslovich, T.M.1
Musunuru, K.2
Smith, A.V.3
Edmondson, A.C.4
Stylianou, I.M.5
Koseki, M.6
-
21
-
-
84902590132
-
Variation at genes influencing facial morphology are not associated with developmental imprecision in human faces
-
Windhager S, Schaschl H, Schaefer K, Mitteroecker P, Huber S, Wallner B, Fieder M. Variation at genes influencing facial morphology are not associated with developmental imprecision in human faces. PLoS One. 2014;9(6):e99009.
-
(2014)
PLoS One
, vol.9
, Issue.6
, pp. e99009
-
-
Windhager, S.1
Schaschl, H.2
Schaefer, K.3
Mitteroecker, P.4
Huber, S.5
Wallner, B.6
Fieder, M.7
-
22
-
-
84903727023
-
Blood I. Loss-of-function mutations in APOC3, triglycerides, and coronary disease
-
The TG, Hdl Working Group of the Exome Sequencing Project NHL, Blood I. Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease. N Engl J Med. 2014;371(1):22-31.
-
(2014)
N Engl J Med.
, vol.371
, Issue.1
, pp. 22-31
-
-
-
23
-
-
84903743893
-
Loss-of-function mutations in APOC3 and risk of ischemic vascular disease
-
Jorgensen AB, Frikke-Schmidt R, Nordestgaard BG, Tybjaerg-Hansen A. Loss-of-Function Mutations in APOC3 and Risk of Ischemic Vascular Disease. N Engl J Med. 2014;371(1):32-41.
-
(2014)
N Engl J Med
, vol.371
, Issue.1
, pp. 32-41
-
-
Jorgensen, A.B.1
Frikke-Schmidt, R.2
Nordestgaard, B.G.3
Tybjaerg-Hansen, A.4
-
24
-
-
0019394333
-
Effect of an inhibitor of 3-hydroxy-3-methyglutaryl coenzyme A reductase on serum lipoproteins and ubiquinone-10-levels in patients with familial hypercholesterolemia
-
Mabuchi H, Haba T, Tatami R, Miyamoto S, Sakai Y, Wakasugi T, et al. Effect of an inhibitor of 3-hydroxy-3-methyglutaryl coenzyme A reductase on serum lipoproteins and ubiquinone-10-levels in patients with familial hypercholesterolemia. N Engl J Med. 1981;305(9):478-82.
-
(1981)
N Engl J Med
, vol.305
, Issue.9
, pp. 478-482
-
-
Mabuchi, H.1
Haba, T.2
Tatami, R.3
Miyamoto, S.4
Sakai, Y.5
Wakasugi, T.6
-
25
-
-
84875963918
-
The benefits of using genetic information to design prevention trials
-
Hu Y, Li L, Ehm MG, Bing N, Song K, Nelson MR, Talmud PJ, et al. The benefits of using genetic information to design prevention trials. Am J Hum Genet. 2013;92(4):547-57.
-
(2013)
Am J Hum Genet
, vol.92
, Issue.4
, pp. 547-557
-
-
Hu, Y.1
Li, L.2
Ehm, M.G.3
Bing, N.4
Song, K.5
Nelson, M.R.6
Talmud, P.J.7
-
26
-
-
84896995635
-
Two decades after BRCA: Setting paradigms in personalized cancer care and prevention
-
Couch FJ, Nathanson KL, Offit K. Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science. 2014;343(6178):1466-70.
-
(2014)
Science
, vol.343
, Issue.6178
, pp. 1466-1470
-
-
Couch, F.J.1
Nathanson, K.L.2
Offit, K.3
|