-
1
-
-
84971185409
-
The correlation between relatives on the supposition of Mendelian inheritance
-
Fisher R.A. The correlation between relatives on the supposition of Mendelian inheritance. Philos Transact R Soc Edinb 52 (1918) 399-433
-
(1918)
Philos Transact R Soc Edinb
, vol.52
, pp. 399-433
-
-
Fisher, R.A.1
-
4
-
-
0030068024
-
Molecular genetics of human blood pressure variation
-
Lifton R.P. Molecular genetics of human blood pressure variation. Science 272 (1996) 676-680
-
(1996)
Science
, vol.272
, pp. 676-680
-
-
Lifton, R.P.1
-
5
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich D.E., and Lander E.S. On the allelic spectrum of human disease. Trends Genet 17 (2001) 502-510
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
6
-
-
0034969437
-
Are rare variants responsible for susceptibility to complex diseases?
-
Pritchard J.K. Are rare variants responsible for susceptibility to complex diseases?. Am J Hum Genet 69 (2001) 124-137
-
(2001)
Am J Hum Genet
, vol.69
, pp. 124-137
-
-
Pritchard, J.K.1
-
7
-
-
38749145596
-
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms
-
Gorlov I.P., Gorlova O.Y., Sunyaev S.R., Spitz M.R., and Amos C.I. Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet 82 (2008) 100-112
-
(2008)
Am J Hum Genet
, vol.82
, pp. 100-112
-
-
Gorlov, I.P.1
Gorlova, O.Y.2
Sunyaev, S.R.3
Spitz, M.R.4
Amos, C.I.5
-
8
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Provides an overview of issues associated with the CDCV hypotheses as well as calculations that shed light on situations in which it is likely that rare variations are responsible for a phenotype.
-
Bodmer W., and Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40 (2008) 695-701. Provides an overview of issues associated with the CDCV hypotheses as well as calculations that shed light on situations in which it is likely that rare variations are responsible for a phenotype.
-
(2008)
Nat Genet
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
9
-
-
17344364213
-
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
-
Nickerson D.A., Taylor S.L., Weiss K.M., Clark A.G., Hutchinson R.G., Stengård J., Salomaa V., Vartiainen E., Boerwinkle E., and Sing C.F. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 19 (1998) 233-240
-
(1998)
Nat Genet
, vol.19
, pp. 233-240
-
-
Nickerson, D.A.1
Taylor, S.L.2
Weiss, K.M.3
Clark, A.G.4
Hutchinson, R.G.5
Stengård, J.6
Salomaa, V.7
Vartiainen, E.8
Boerwinkle, E.9
Sing, C.F.10
-
10
-
-
1842435261
-
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations
-
Crawford D.C., Carlson C.S., Rieder M.J., Carrington D.P., Yi Q., Smith J.D., Eberle M.A., Kruglyak L., and Nickerson D.A. Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet 74 (2004) 610-622
-
(2004)
Am J Hum Genet
, vol.74
, pp. 610-622
-
-
Crawford, D.C.1
Carlson, C.S.2
Rieder, M.J.3
Carrington, D.P.4
Yi, Q.5
Smith, J.D.6
Eberle, M.A.7
Kruglyak, L.8
Nickerson, D.A.9
-
11
-
-
0036258208
-
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening
-
Bobadilla J.L., Macek Jr. M., Fine J.P., and Farrell P.M. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat 19 (2002) 575-606
-
(2002)
Hum Mutat
, vol.19
, pp. 575-606
-
-
Bobadilla, J.L.1
Macek Jr., M.2
Fine, J.P.3
Farrell, P.M.4
-
12
-
-
0033866487
-
The breast cancer information core: database design, structure, and scope
-
Szabo C., Masiello A., Ryan J.F., and Brody L.C. The breast cancer information core: database design, structure, and scope. Hum Mutat 16 (2000) 123-131
-
(2000)
Hum Mutat
, vol.16
, pp. 123-131
-
-
Szabo, C.1
Masiello, A.2
Ryan, J.F.3
Brody, L.C.4
-
13
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Frazer K.A., Ballinger D.G., Cox D.R., Hinds D.A., Stuve L.L., Gibbs R.A., Belmont J.W., Boudreau A., Hardenbol P., Leal S.M., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449 (2007) 851-861
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Frazer, K.A.1
Ballinger, D.G.2
Cox, D.R.3
Hinds, D.A.4
Stuve, L.L.5
Gibbs, R.A.6
Belmont, J.W.7
Boudreau, A.8
Hardenbol, P.9
Leal, S.M.10
-
14
-
-
43049146524
-
A HapMap harvest of insights into the genetics of common disease
-
An important review of the contemporary progress made in identifying common genetic variations that influence common diseases through genome wide association (GWA) studies. The review also discusses limitations of the GWA study approach.
-
Manolio T.A., Brooks L.D., and Collins F.S. A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118 (2008) 1590-1605. An important review of the contemporary progress made in identifying common genetic variations that influence common diseases through genome wide association (GWA) studies. The review also discusses limitations of the GWA study approach.
-
(2008)
J Clin Invest
, vol.118
, pp. 1590-1605
-
-
Manolio, T.A.1
Brooks, L.D.2
Collins, F.S.3
-
15
-
-
55549147191
-
Personal genomes: the case of the missing heritability
-
Maher B. Personal genomes: the case of the missing heritability. Nature 456 (2008) 18-21
-
(2008)
Nature
, vol.456
, pp. 18-21
-
-
Maher, B.1
-
16
-
-
40749154333
-
DNA sequence-based phenotypic association analysis
-
Schork N.J., Wessel J., and Malo N. DNA sequence-based phenotypic association analysis. Adv Genet 60 (2008) 195-217
-
(2008)
Adv Genet
, vol.60
, pp. 195-217
-
-
Schork, N.J.1
Wessel, J.2
Malo, N.3
-
17
-
-
34248525150
-
Completing the map of human genetic variation
-
Eichler E.E., Nickerson D.A., Altshuler D., Bowcock A.M., Brooks L.D., Carter N.P., Church D.M., Felsenfeld A., Guyer M., Lee C., et al. Completing the map of human genetic variation. Nature 447 (2007) 161-165
-
(2007)
Nature
, vol.447
, pp. 161-165
-
-
Eichler, E.E.1
Nickerson, D.A.2
Altshuler, D.3
Bowcock, A.M.4
Brooks, L.D.5
Carter, N.P.6
Church, D.M.7
Felsenfeld, A.8
Guyer, M.9
Lee, C.10
-
18
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., et al. Strong association of de novo copy number mutations with autism. Science 316 (2007) 445-449
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
-
19
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
The first paper to show that multiple rare copy number variations (CNVs) are more frequent in individuals with Schizophrenia than without, raising questions about the mechanism of action of these CNVs.
-
Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320 (2008) 539-543. The first paper to show that multiple rare copy number variations (CNVs) are more frequent in individuals with Schizophrenia than without, raising questions about the mechanism of action of these CNVs.
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
-
20
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
Cook Jr. E.H., and Scherer S.W. Copy-number variations associated with neuropsychiatric conditions. Nature 455 (2008) 919-923
-
(2008)
Nature
, vol.455
, pp. 919-923
-
-
Cook Jr., E.H.1
Scherer, S.W.2
-
21
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., et al. The diploid genome sequence of an individual human. PLoS Biol 5 (2007) e254
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
-
22
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler D.A., Srinivasan M., Egholm M., Shen Y., Chen L., McGuire A., He W., Chen Y.J., Makhijani V., Roth G.T., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452 (2008) 872-876
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.J.8
Makhijani, V.9
Roth, G.T.10
-
23
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J., Wang W., Li R., Li Y., Tian G., Goodman L., Fan W., Zhang J., Li J., Zhang J., et al. The diploid genome sequence of an Asian individual. Nature 456 (2008) 60-65
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
Li, Y.4
Tian, G.5
Goodman, L.6
Fan, W.7
Zhang, J.8
Li, J.9
Zhang, J.10
-
24
-
-
50849127837
-
Genetic variation in an individual human exome
-
Ng P.C., Levy S., Huang J., Stockwell T.B., Walenz B.P., Li K., Axelrod N., Busam D.A., Strausberg R.L., and Venter J.C. Genetic variation in an individual human exome. PLoS Genet 4 (2008) e1000160
-
(2008)
PLoS Genet
, vol.4
-
-
Ng, P.C.1
Levy, S.2
Huang, J.3
Stockwell, T.B.4
Walenz, B.P.5
Li, K.6
Axelrod, N.7
Busam, D.A.8
Strausberg, R.L.9
Venter, J.C.10
-
25
-
-
67349181178
-
Cancer driver mutations in protein kinase genes
-
[Epub ahead of print]
-
Torkamani A., VerkhivkerF G., and Schork N.J. Cancer driver mutations in protein kinase genes. Cancer Lett (2008) [Epub ahead of print]
-
(2008)
Cancer Lett
-
-
Torkamani, A.1
VerkhivkerF, G.2
Schork, N.J.3
-
26
-
-
36248962105
-
The genomic landscapes of human breast and colorectal cancers
-
One of the first large-scale DNA sequencing studies of tumors to reveal the frequency of multiple variations, many rare, in different genes that are likely to be driving tumorigenesis.
-
Wood L.D., Parsons D.W., Jones S., Lin J., Sjöblom T., Leary R.J., Shen D., Boca S.M., Barber T., Ptak J., et al. The genomic landscapes of human breast and colorectal cancers. Science 318 (2007) 1108-1113. One of the first large-scale DNA sequencing studies of tumors to reveal the frequency of multiple variations, many rare, in different genes that are likely to be driving tumorigenesis.
-
(2007)
Science
, vol.318
, pp. 1108-1113
-
-
Wood, L.D.1
Parsons, D.W.2
Jones, S.3
Lin, J.4
Sjöblom, T.5
Leary, R.J.6
Shen, D.7
Boca, S.M.8
Barber, T.9
Ptak, J.10
-
27
-
-
54549108740
-
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
-
Cancer Genome Atlas Research Network. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature 455 (2008) 1061-1068
-
(2008)
Nature
, vol.455
, pp. 1061-1068
-
-
Cancer Genome Atlas Research Network1
-
28
-
-
54549094903
-
Somatic mutations affect key pathways in lung adenocarcinoma
-
Ding L., Getz G., Wheeler D.A., Mardis E.R., McLellan M.D., Cibulskis K., Sougnez C., Greulich H., Muzny D.M., Morgan M.B., et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455 (2008) 1069-1075
-
(2008)
Nature
, vol.455
, pp. 1069-1075
-
-
Ding, L.1
Getz, G.2
Wheeler, D.A.3
Mardis, E.R.4
McLellan, M.D.5
Cibulskis, K.6
Sougnez, C.7
Greulich, H.8
Muzny, D.M.9
Morgan, M.B.10
-
29
-
-
52149123619
-
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
-
Jones S., Zhang X., Parsons D.W., Lin J.C., Leary R.J., Angenendt P., Mankoo P., Carter H., Kamiyama H., Jimeno A., et al. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321 (2008) 1801-1806
-
(2008)
Science
, vol.321
, pp. 1801-1806
-
-
Jones, S.1
Zhang, X.2
Parsons, D.W.3
Lin, J.C.4
Leary, R.J.5
Angenendt, P.6
Mankoo, P.7
Carter, H.8
Kamiyama, H.9
Jimeno, A.10
-
30
-
-
34548677928
-
Comment on The consensus coding sequences of human breast and colorectal cancers
-
Getz G., Höfling H., Mesirov J.P., Golub T.R., Meyerson M., Tibshirani R., and Lander E.S. Comment on The consensus coding sequences of human breast and colorectal cancers. Science 317 (2007) 1500
-
(2007)
Science
, vol.317
, pp. 1500
-
-
Getz, G.1
Höfling, H.2
Mesirov, J.P.3
Golub, T.R.4
Meyerson, M.5
Tibshirani, R.6
Lander, E.S.7
-
31
-
-
34548668869
-
Comment on The consensus coding sequences of human breast and colorectal cancers
-
author reply 1500
-
Forrest W.F., and Cavet G. Comment on The consensus coding sequences of human breast and colorectal cancers. Science 317 (2007) 1500 author reply 1500
-
(2007)
Science
, vol.317
, pp. 1500
-
-
Forrest, W.F.1
Cavet, G.2
-
32
-
-
34548668869
-
Comment on The consensus coding sequences of human breast and colorectal cancers
-
Rubin A.F., and Green P. Comment on The consensus coding sequences of human breast and colorectal cancers. Science 317 (2007) 1500
-
(2007)
Science
, vol.317
, pp. 1500
-
-
Rubin, A.F.1
Green, P.2
-
33
-
-
34249997024
-
Replicating genotype-phenotype associations
-
Chanock S.J., Manolio T., Boehnke M., Boerwinkle E., Hunter D.J., Thomas G., Hirschhorn J.N., Abecasis G., Altshuler D., Bailey-Wilson J.E., et al. Replicating genotype-phenotype associations. Nature 447 (2007) 655-660
-
(2007)
Nature
, vol.447
, pp. 655-660
-
-
Chanock, S.J.1
Manolio, T.2
Boehnke, M.3
Boerwinkle, E.4
Hunter, D.J.5
Thomas, G.6
Hirschhorn, J.N.7
Abecasis, G.8
Altshuler, D.9
Bailey-Wilson, J.E.10
-
34
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
-
Li B., and Leal S.M. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 83 (2008) 311-321
-
(2008)
Am J Hum Genet
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.M.2
-
35
-
-
48249096806
-
Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies
-
Hoggart C.J., Whittaker J.C., De Iorio M., and Balding D.J. Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies. PLoS Genet 4 (2008) 1000130
-
(2008)
PLoS Genet
, vol.4
, pp. 1000130
-
-
Hoggart, C.J.1
Whittaker, J.C.2
De Iorio, M.3
Balding, D.J.4
-
36
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome
-
Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R., Lu Y., Canessa C., Iwasaki T., Rossier B., and Lifton R.P. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet 11 (1995) 76-82
-
(1995)
Nat Genet
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.5
Lu, Y.6
Canessa, C.7
Iwasaki, T.8
Rossier, B.9
Lifton, R.P.10
-
37
-
-
68649094833
-
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
-
[Epub ahead of print] PMID: 19264985
-
Nejentsev S., Walker N., Riches D., Egholm M., and Todd J.A. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2000) [Epub ahead of print] PMID: 19264985
-
(2000)
Science
-
-
Nejentsev, S.1
Walker, N.2
Riches, D.3
Egholm, M.4
Todd, J.A.5
-
38
-
-
45849118692
-
The prevalence of folate-remedial MTHFR enzyme variants in humans
-
Marini N.J., Gin J., Ziegle J., Keho K.H., Ginzinger D., Gilbert D.A., and Rine J. The prevalence of folate-remedial MTHFR enzyme variants in humans. Proc Natl Acad Sci U S A 105 (2008) 8055-8060
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 8055-8060
-
-
Marini, N.J.1
Gin, J.2
Ziegle, J.3
Keho, K.H.4
Ginzinger, D.5
Gilbert, D.A.6
Rine, J.7
-
39
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
A comprehensive study that identified multiple rare coding variations in particular genes that are collectively increased in frequency among individuals with higher than average blood pressures.
-
Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., and Lifton R.P. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40 (2008) 592-599. A comprehensive study that identified multiple rare coding variations in particular genes that are collectively increased in frequency among individuals with higher than average blood pressures.
-
(2008)
Nat Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
40
-
-
39049097331
-
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas
-
Azzopardi D., Dallosso A.R., Eliason K., Hendrickson B.C., Jones N., Rawstorne E., Colley J., Moskvina V., Frye C., Sampson J.R., et al. Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res 68 (2008) 358-363
-
(2008)
Cancer Res
, vol.68
, pp. 358-363
-
-
Azzopardi, D.1
Dallosso, A.R.2
Eliason, K.3
Hendrickson, B.C.4
Jones, N.5
Rawstorne, E.6
Colley, J.7
Moskvina, V.8
Frye, C.9
Sampson, J.R.10
-
41
-
-
38949132672
-
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis
-
Masson E., Chen J.M., Scotet V., Le Maréchal C., and Férec C. Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. Hum Genet 123 (2008) 83-91
-
(2008)
Hum Genet
, vol.123
, pp. 83-91
-
-
Masson, E.1
Chen, J.M.2
Scotet, V.3
Le Maréchal, C.4
Férec, C.5
-
42
-
-
42949132877
-
Full-exon resequencing reveals toll-like receptor variants contribute to human susceptibility to tuberculosis disease
-
Ma X., Liu Y., Gowen B.B., Graviss E.A., Clark A.G., and Musser J.M. Full-exon resequencing reveals toll-like receptor variants contribute to human susceptibility to tuberculosis disease. PLoS ONE 2 (2007) 1318
-
(2007)
PLoS ONE
, vol.2
, pp. 1318
-
-
Ma, X.1
Liu, Y.2
Gowen, B.B.3
Graviss, E.A.4
Clark, A.G.5
Musser, J.M.6
-
43
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv N., Kavaslar N., Schackwitz W., Ustaszewska A., Martin J., Hebert S., Doelle H., Ersoy B., Kryukov G., Schmidt S., et al. Medical sequencing at the extremes of human body mass. Am J Hum Genet 80 (2007) 779-791
-
(2007)
Am J Hum Genet
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
Kavaslar, N.2
Schackwitz, W.3
Ustaszewska, A.4
Martin, J.5
Hebert, S.6
Doelle, H.7
Ersoy, B.8
Kryukov, G.9
Schmidt, S.10
-
44
-
-
34047177395
-
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
-
Romeo S., Pennacchio L.A., Fu Y., Boerwinkle E., Tybjaerg-Hansen A., Hobbs H.H., and Cohen J.C. Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL. Nat Genet 39 (2007) 513-516
-
(2007)
Nat Genet
, vol.39
, pp. 513-516
-
-
Romeo, S.1
Pennacchio, L.A.2
Fu, Y.3
Boerwinkle, E.4
Tybjaerg-Hansen, A.5
Hobbs, H.H.6
Cohen, J.C.7
-
45
-
-
33344464808
-
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol
-
Kotowski I.K., Pertsemlidis A., Luke A., Cooper R.S., Vega G.L., Cohen J.C., and Hobbs H.H. A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol. Am J Hum Genet 78 (2006) 410-422
-
(2006)
Am J Hum Genet
, vol.78
, pp. 410-422
-
-
Kotowski, I.K.1
Pertsemlidis, A.2
Luke, A.3
Cooper, R.S.4
Vega, G.L.5
Cohen, J.C.6
Hobbs, H.H.7
-
46
-
-
32444441330
-
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
-
Cohen J.C., Pertsemlidis A., Fahmi S., Esmail S., Vega G.L., Grundy S.M., and Hobbs H.H. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A 103 (2006) 1810-1815
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 1810-1815
-
-
Cohen, J.C.1
Pertsemlidis, A.2
Fahmi, S.3
Esmail, S.4
Vega, G.L.5
Grundy, S.M.6
Hobbs, H.H.7
-
47
-
-
33645103550
-
Sequence variations PCSK9, low LDL, and protection against coronary heart disease
-
Cohen J.C., Boerwinkle E., Mosley Jr. T.H., and Hobbs H.H. Sequence variations PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 354 (2006) 1264-1272
-
(2006)
N Engl J Med
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley Jr., T.H.3
Hobbs, H.H.4
-
48
-
-
13944265645
-
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
-
[Erratum in: Nat Genet 2005, 37:328]
-
Cohen J., Pertsemlidis A., Kotowski I.K., Graham R., Garcia C.K., and Hobbs H.H. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat Genet 37 (2005) 161-165 [Erratum in: Nat Genet 2005, 37:328]
-
(2005)
Nat Genet
, vol.37
, pp. 161-165
-
-
Cohen, J.1
Pertsemlidis, A.2
Kotowski, I.K.3
Graham, R.4
Garcia, C.K.5
Hobbs, H.H.6
-
49
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen J.C., Kiss R.S., Pertsemlidis A., Marcel Y.L., McPherson R., and Hobbs H.H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 869-872
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
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