-
1
-
-
84899513456
-
Fast principal component analysis of large-scale genome-wide data
-
Abraham, G., Inouye, M., Fast principal component analysis of large-scale genome-wide data. PLoS ONE, 9, 2014, e93766.
-
(2014)
PLoS ONE
, vol.9
, pp. e93766
-
-
Abraham, G.1
Inouye, M.2
-
2
-
-
20244372858
-
Hemochromatosis and iron-overload screening in a racially diverse population
-
Adams, P.C., Reboussin, D.M., Barton, J.C., McLaren, C.E., Eckfeldt, J.H., McLaren, G.D., Dawkins, F.W., Acton, R.T., Harris, E.L., Gordeuk, V.R., et al., Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators. Hemochromatosis and iron-overload screening in a racially diverse population. N. Engl. J. Med. 352 (2005), 1769–1778.
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 1769-1778
-
-
Adams, P.C.1
Reboussin, D.M.2
Barton, J.C.3
McLaren, C.E.4
Eckfeldt, J.H.5
McLaren, G.D.6
Dawkins, F.W.7
Acton, R.T.8
Harris, E.L.9
Gordeuk, V.R.10
-
3
-
-
14844345323
-
Haptoglobin genotype- and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo
-
Asleh, R., Guetta, J., Kalet-Litman, S., Miller-Lotan, R., Levy, A.P., Haptoglobin genotype- and diabetes-dependent differences in iron-mediated oxidative stress in vitro and in vivo. Circ. Res. 96 (2005), 435–441.
-
(2005)
Circ. Res.
, vol.96
, pp. 435-441
-
-
Asleh, R.1
Guetta, J.2
Kalet-Litman, S.3
Miller-Lotan, R.4
Levy, A.P.5
-
4
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium et al., 2015 1000 Genomes Project Consortium, Auton, A., Brooks, L.D., Durbin, R.M., Garrison, E.P., Kang, H.M., Korbel, J.O., Marchini, J.L., McCarthy, S., McVean, G.A., Abecasis, G.R., A global reference for human genetic variation. Nature 526 (2015), 68–74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
Korbel, J.O.6
Marchini, J.L.7
McCarthy, S.8
McVean, G.A.9
Abecasis, G.R.10
-
5
-
-
84886298325
-
Assaying hematopoiesis using zebrafish
-
Boatman, S., Barrett, F., Satishchandran, S., Jing, L., Shestopalov, I., Zon, L.I., Assaying hematopoiesis using zebrafish. Blood Cells Mol. Dis. 51 (2013), 271–276.
-
(2013)
Blood Cells Mol. Dis.
, vol.51
, pp. 271-276
-
-
Boatman, S.1
Barrett, F.2
Satishchandran, S.3
Jing, L.4
Shestopalov, I.5
Zon, L.I.6
-
6
-
-
84936755918
-
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
-
Bowden, J., Davey Smith, G., Burgess, S., Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression. Int. J. Epidemiol. 44 (2015), 512–525.
-
(2015)
Int. J. Epidemiol.
, vol.44
, pp. 512-525
-
-
Bowden, J.1
Davey Smith, G.2
Burgess, S.3
-
7
-
-
84936758183
-
Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects
-
Burgess, S., Thompson, S.G., Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects. Am. J. Epidemiol. 181 (2015), 251–260.
-
(2015)
Am. J. Epidemiol.
, vol.181
, pp. 251-260
-
-
Burgess, S.1
Thompson, S.G.2
-
8
-
-
84924073380
-
Crosstalk between red blood cells and the immune system and its impact on atherosclerosis
-
Buttari, B., Profumo, E., Riganò, R., Crosstalk between red blood cells and the immune system and its impact on atherosclerosis. BioMed Res. Int., 2015, 2015, 616834.
-
(2015)
BioMed Res. Int.
, vol.2015
, pp. 616834
-
-
Buttari, B.1
Profumo, E.2
Riganò, R.3
-
9
-
-
85043625477
-
Searching for the chromatin determinants of human hematopoiesis
-
Carrillo de Santa Pau, E., Juan, D., Pancaldi, V., Were, F., Martin-Subero, I., Rico, D., Valencia, A., Searching for the chromatin determinants of human hematopoiesis. bioRxiv., 2016, 10.1101/082917.
-
(2016)
bioRxiv.
-
-
Carrillo de Santa Pau, E.1
Juan, D.2
Pancaldi, V.3
Were, F.4
Martin-Subero, I.5
Rico, D.6
Valencia, A.7
-
10
-
-
23044463627
-
TACI is mutant in common variable immunodeficiency and IgA deficiency
-
Castigli, E., Wilson, S.A., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L., Geha, R.S., TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat. Genet. 37 (2005), 829–834.
-
(2005)
Nat. Genet.
, vol.37
, pp. 829-834
-
-
Castigli, E.1
Wilson, S.A.2
Garibyan, L.3
Rachid, R.4
Bonilla, F.5
Schneider, L.6
Geha, R.S.7
-
11
-
-
84989865856
-
Exome genotyping identifies pleiotropic variants associated with red blood cell traits
-
Chami, N., Chen, M.-H., Slater, A.J., Eicher, J.D., Evangelou, E., Tajuddin, S.M., Love-Gregory, L., Kacprowski, T., Schick, U.M., Nomura, A., et al. Exome genotyping identifies pleiotropic variants associated with red blood cell traits. Am. J. Hum. Genet. 99 (2016), 8–21.
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 8-21
-
-
Chami, N.1
Chen, M.-H.2
Slater, A.J.3
Eicher, J.D.4
Evangelou, E.5
Tajuddin, S.M.6
Love-Gregory, L.7
Kacprowski, T.8
Schick, U.M.9
Nomura, A.10
-
12
-
-
84930213392
-
Second-generation PLINK: rising to the challenge of larger and richer datasets
-
Chang, C.C., Chow, C.C., Tellier, L.C., Vattikuti, S., Purcell, S.M., Lee, J.J., Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience, 4, 2015, 7.
-
(2015)
Gigascience
, vol.4
, pp. 7
-
-
Chang, C.C.1
Chow, C.C.2
Tellier, L.C.3
Vattikuti, S.4
Purcell, S.M.5
Lee, J.J.6
-
13
-
-
84978055882
-
Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits
-
CHARGE Consortium Hematology Working Group. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nat. Genet. 48 (2016), 867–876.
-
(2016)
Nat. Genet.
, vol.48
, pp. 867-876
-
-
-
14
-
-
84995752772
-
Genetic drivers of epigenetic and transcriptional variation in human immune cells
-
Chen, L., Ge, B., Casale, F.P., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yang, Y., Kundu, K., Ecker, S., et al. Genetic drivers of epigenetic and transcriptional variation in human immune cells. Cell, 167, 2016, 10.1371/journal.pbio.0000051.
-
(2016)
Cell
, vol.167
-
-
Chen, L.1
Ge, B.2
Casale, F.P.3
Vasquez, L.4
Kwan, T.5
Garrido-Martín, D.6
Watt, S.7
Yang, Y.8
Kundu, K.9
Ecker, S.10
-
15
-
-
84871952176
-
Improved whole-chromosome phasing for disease and population genetic studies
-
Delaneau, O., Zagury, J.-F., Marchini, J., Improved whole-chromosome phasing for disease and population genetic studies. Nat. Methods 10 (2013), 5–6.
-
(2013)
Nat. Methods
, vol.10
, pp. 5-6
-
-
Delaneau, O.1
Zagury, J.-F.2
Marchini, J.3
-
16
-
-
84899540087
-
Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT)
-
Durbin, R., Efficient haplotype matching and storage using the positional Burrows-Wheeler transform (PBWT). Bioinformatics 30 (2014), 1266–1272.
-
(2014)
Bioinformatics
, vol.30
, pp. 1266-1272
-
-
Durbin, R.1
-
17
-
-
84989952555
-
Platelet-related variants identified by exomechip meta-analysis in 157,293 individuals
-
Eicher, J.D., Chami, N., Kacprowski, T., Nomura, A., Chen, M.-H., Yanek, L.R., Tajuddin, S.M., Schick, U.M., Slater, A.J., Pankratz, N., et al. Global Lipids Genetics Consortium CARDIoGRAM Exome Consortium, Myocardial Infarction Genetics Consortium. Platelet-related variants identified by exomechip meta-analysis in 157,293 individuals. Am. J. Hum. Genet. 99 (2016), 40–55.
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 40-55
-
-
Eicher, J.D.1
Chami, N.2
Kacprowski, T.3
Nomura, A.4
Chen, M.-H.5
Yanek, L.R.6
Tajuddin, S.M.7
Schick, U.M.8
Slater, A.J.9
Pankratz, N.10
-
18
-
-
84904313678
-
Red cell distribution width, haemoglobin A1c and incidence of diabetes mellitus
-
Engström, G., Smith, J.G., Persson, M., Nilsson, P.M., Melander, O., Hedblad, B., Red cell distribution width, haemoglobin A1c and incidence of diabetes mellitus. J. Intern. Med. 276 (2014), 174–183.
-
(2014)
J. Intern. Med.
, vol.276
, pp. 174-183
-
-
Engström, G.1
Smith, J.G.2
Persson, M.3
Nilsson, P.M.4
Melander, O.5
Hedblad, B.6
-
19
-
-
84857707318
-
ChromHMM: automating chromatin-state discovery and characterization
-
Ernst, J., Kellis, M., ChromHMM: automating chromatin-state discovery and characterization. Nat. Methods 9 (2012), 215–216.
-
(2012)
Nat. Methods
, vol.9
, pp. 215-216
-
-
Ernst, J.1
Kellis, M.2
-
20
-
-
0034708829
-
Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1
-
Faure, S., Meyer, L., Costagliola, D., Vaneensberghe, C., Genin, E., Autran, B., Delfraissy, J.F., McDermott, D.H., Murphy, P.M., Debré, P., et al. Rapid progression to AIDS in HIV+ individuals with a structural variant of the chemokine receptor CX3CR1. Science 287 (2000), 2274–2277.
-
(2000)
Science
, vol.287
, pp. 2274-2277
-
-
Faure, S.1
Meyer, L.2
Costagliola, D.3
Vaneensberghe, C.4
Genin, E.5
Autran, B.6
Delfraissy, J.F.7
McDermott, D.H.8
Murphy, P.M.9
Debré, P.10
-
21
-
-
84876828211
-
Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases
-
Ferreira, R.C., Freitag, D.F., Cutler, A.J., Howson, J.M.M., Rainbow, D.B., Smyth, D.J., Kaptoge, S., Clarke, P., Boreham, C., Coulson, R.M., et al. Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases. PLoS Genet., 9, 2013, e1003444.
-
(2013)
PLoS Genet.
, vol.9
, pp. e1003444
-
-
Ferreira, R.C.1
Freitag, D.F.2
Cutler, A.J.3
Howson, J.M.M.4
Rainbow, D.B.5
Smyth, D.J.6
Kaptoge, S.7
Clarke, P.8
Boreham, C.9
Coulson, R.M.10
-
22
-
-
85000443086
-
Partitioning heritability by functional annotation using genome-wide association summary statistics
-
Finucane, H.K., Bulik-Sullivan, B., Gusev, A., Trynka, G., Reshef, Y., Loh, P.-R., Anttila, V., Xu, H., Zang, C., Farh, K., et al. ReproGen Consortium Schizophrenia Working Group of the Psychiatric Genomics Consortium, RACI Consortium. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47 (2015), 1228–1235.
-
(2015)
Nat. Genet.
, vol.47
, pp. 1228-1235
-
-
Finucane, H.K.1
Bulik-Sullivan, B.2
Gusev, A.3
Trynka, G.4
Reshef, Y.5
Loh, P.-R.6
Anttila, V.7
Xu, H.8
Zang, C.9
Farh, K.10
-
23
-
-
84861355868
-
Hepcidin and iron homeostasis
-
Ganz, T., Nemeth, E., Hepcidin and iron homeostasis. Biochim. Biophys. Acta 1823 (2012), 1434–1443.
-
(2012)
Biochim. Biophys. Acta
, vol.1823
, pp. 1434-1443
-
-
Ganz, T.1
Nemeth, E.2
-
24
-
-
83055161438
-
New gene functions in megakaryopoiesis and platelet formation
-
Gieger, C., Radhakrishnan, A., Cvejic, A., Tang, W., Porcu, E., Pistis, G., Serbanovic-Canic, J., Elling, U., Goodall, A.H., Labrune, Y., et al. New gene functions in megakaryopoiesis and platelet formation. Nature 480 (2011), 201–208.
-
(2011)
Nature
, vol.480
, pp. 201-208
-
-
Gieger, C.1
Radhakrishnan, A.2
Cvejic, A.3
Tang, W.4
Porcu, E.5
Pistis, G.6
Serbanovic-Canic, J.7
Elling, U.8
Goodall, A.H.9
Labrune, Y.10
-
25
-
-
78149438990
-
Differential white blood cell count and type 2 diabetes: systematic review and meta-analysis of cross-sectional and prospective studies
-
Gkrania-Klotsas, E., Ye, Z., Cooper, A.J., Sharp, S.J., Luben, R., Biggs, M.L., Chen, L.-K., Gokulakrishnan, K., Hanefeld, M., Ingelsson, E., et al. Differential white blood cell count and type 2 diabetes: systematic review and meta-analysis of cross-sectional and prospective studies. PLoS ONE, 5, 2010, e13405.
-
(2010)
PLoS ONE
, vol.5
, pp. e13405
-
-
Gkrania-Klotsas, E.1
Ye, Z.2
Cooper, A.J.3
Sharp, S.J.4
Luben, R.5
Biggs, M.L.6
Chen, L.-K.7
Gokulakrishnan, K.8
Hanefeld, M.9
Ingelsson, E.10
-
26
-
-
84960117336
-
Phenotype similarity regression for identifying the genetic determinants of rare diseases
-
Greene, D. NIHR BioResource, Richardson, S., Turro, E., Phenotype similarity regression for identifying the genetic determinants of rare diseases. Am. J. Hum. Genet. 98 (2016), 490–499.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 490-499
-
-
Greene, D.1
Richardson, S.2
Turro, E.3
-
27
-
-
84929001104
-
Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
-
GTEx Consortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348 (2015), 648–660.
-
(2015)
Science
, vol.348
, pp. 648-660
-
-
-
28
-
-
67249117049
-
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
-
Hindorff, L.A., Sethupathy, P., Junkins, H.A., Ramos, E.M., Mehta, J.P., Collins, F.S., Manolio, T.A., Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106 (2009), 9362–9367.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
Sethupathy, P.2
Junkins, H.A.3
Ramos, E.M.4
Mehta, J.P.5
Collins, F.S.6
Manolio, T.A.7
-
29
-
-
84863845193
-
Genotype imputation with thousands of genomes
-
Howie, B., Marchini, J., Stephens, M., Genotype imputation with thousands of genomes. G3 (Bethesda) 1 (2011), 457–470.
-
(2011)
G3 (Bethesda)
, vol.1
, pp. 457-470
-
-
Howie, B.1
Marchini, J.2
Stephens, M.3
-
30
-
-
84895832107
-
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment
-
Hughes, J.R., Roberts, N., McGowan, S., Hay, D., Giannoulatou, E., Lynch, M., De Gobbi, M., Taylor, S., Gibbons, R., Higgs, D.R., Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment. Nat. Genet. 46 (2014), 205–212.
-
(2014)
Nat. Genet.
, vol.46
, pp. 205-212
-
-
Hughes, J.R.1
Roberts, N.2
McGowan, S.3
Hay, D.4
Giannoulatou, E.5
Lynch, M.6
De Gobbi, M.7
Taylor, S.8
Gibbons, R.9
Higgs, D.R.10
-
31
-
-
84922333576
-
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
-
Hussain, M.S., Battaglia, A., Szczepanski, S., Kaygusuz, E., Toliat, M.R., Sakakibara, S., Altmüller, J., Thiele, H., Nürnberg, G., Moosa, S., et al. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. Am. J. Hum. Genet. 95 (2014), 622–632.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 622-632
-
-
Hussain, M.S.1
Battaglia, A.2
Szczepanski, S.3
Kaygusuz, E.4
Toliat, M.R.5
Sakakibara, S.6
Altmüller, J.7
Thiele, H.8
Nürnberg, G.9
Moosa, S.10
-
32
-
-
84884572414
-
Haptoglobin 2 allele associates with unstable carotid plaque and major cardiovascular events
-
Ijäs, P., Saksi, J., Soinne, L., Tuimala, J., Jauhiainen, M., Jula, A., Kähönen, M., Kesäniemi, Y.A., Kovanen, P.T., Kaste, M., Lindsberg, P.J., Haptoglobin 2 allele associates with unstable carotid plaque and major cardiovascular events. Atherosclerosis 230 (2013), 228–234.
-
(2013)
Atherosclerosis
, vol.230
, pp. 228-234
-
-
Ijäs, P.1
Saksi, J.2
Soinne, L.3
Tuimala, J.4
Jauhiainen, M.5
Jula, A.6
Kähönen, M.7
Kesäniemi, Y.A.8
Kovanen, P.T.9
Kaste, M.10
Lindsberg, P.J.11
-
33
-
-
77956331627
-
Integrating common and rare genetic variation in diverse human populations
-
International HapMap 3 Consortium, Altshuler, D.M., Gibbs, R.A., Peltonen, L., Altshuler, D.M., Gibbs, R.A., Peltonen, L., Dermitzakis, E., Schaffner, S.F., Yu, F., et al. Integrating common and rare genetic variation in diverse human populations. Nature 467 (2010), 52–58.
-
(2010)
Nature
, vol.467
, pp. 52-58
-
-
Altshuler, D.M.1
Gibbs, R.A.2
Peltonen, L.3
Altshuler, D.M.4
Gibbs, R.A.5
Peltonen, L.6
Dermitzakis, E.7
Schaffner, S.F.8
Yu, F.9
-
34
-
-
85021194867
-
GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction
-
Iotchkova, V., Ritchie, G.R.S., Geihs, M., Morganella, S., Min, J.L., Walter, K., Timpson, N.J. UK10K Consortium, Dunham, I., Birney, E., Nicole Soranzo, GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction. bioRxiv., 2016, 10.1101/085738.
-
(2016)
bioRxiv.
-
-
-
35
-
-
84988713790
-
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps
-
Iotchkova, V., Huang, J., Morris, J.A., Jain, D., Barbieri, C., Walter, K., Min, J.L., Chen, L., Astle, W., Cocca, M., et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nat. Genet. 48 (2016), 1303–1312.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1303-1312
-
-
Iotchkova, V.1
Huang, J.2
Morris, J.A.3
Jain, D.4
Barbieri, C.5
Walter, K.6
Min, J.L.7
Chen, L.8
Astle, W.9
Cocca, M.10
-
36
-
-
84876485422
-
Platelets: bridging hemostasis, inflammation, and immunity
-
Jenne, C.N., Urrutia, R., Kubes, P., Platelets: bridging hemostasis, inflammation, and immunity. Int. J. Lab. Hematol. 35 (2013), 254–261.
-
(2013)
Int. J. Lab. Hematol.
, vol.35
, pp. 254-261
-
-
Jenne, C.N.1
Urrutia, R.2
Kubes, P.3
-
37
-
-
70350212737
-
The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow
-
Jensen, F.B., The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow. J. Exp. Biol. 212 (2009), 3387–3393.
-
(2009)
J. Exp. Biol.
, vol.212
, pp. 3387-3393
-
-
Jensen, F.B.1
-
38
-
-
84868490540
-
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data
-
Jun, G., Flickinger, M., Hetrick, K.N., Romm, J.M., Doheny, K.F., Abecasis, G.R., Boehnke, M., Kang, H.M., Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. Am. J. Hum. Genet. 91 (2012), 839–848.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 839-848
-
-
Jun, G.1
Flickinger, M.2
Hetrick, K.N.3
Romm, J.M.4
Doheny, K.F.5
Abecasis, G.R.6
Boehnke, M.7
Kang, H.M.8
-
39
-
-
0025996616
-
Single-nucleotide substitution in pyruvate kinase deficiency
-
Kanno, H., Miwa, S., Single-nucleotide substitution in pyruvate kinase deficiency. Blood 78 (1991), 1891–1892.
-
(1991)
Blood
, vol.78
, pp. 1891-1892
-
-
Kanno, H.1
Miwa, S.2
-
40
-
-
0035843134
-
Identification of the haemoglobin scavenger receptor
-
Kristiansen, M., Graversen, J.H., Jacobsen, C., Sonne, O., Hoffman, H.J., Law, S.K., Moestrup, S.K., Identification of the haemoglobin scavenger receptor. Nature 409 (2001), 198–201.
-
(2001)
Nature
, vol.409
, pp. 198-201
-
-
Kristiansen, M.1
Graversen, J.H.2
Jacobsen, C.3
Sonne, O.4
Hoffman, H.J.5
Law, S.K.6
Moestrup, S.K.7
-
41
-
-
66549121768
-
LAD-1/variant syndrome is caused by mutations in FERMT3
-
Kuijpers, T.W., van de Vijver, E., Weterman, M.A.J., de Boer, M., Tool, A.T.J., van den Berg, T.K., Moser, M., Jakobs, M.E., Seeger, K., Sanal, O., et al. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood 113 (2009), 4740–4746.
-
(2009)
Blood
, vol.113
, pp. 4740-4746
-
-
Kuijpers, T.W.1
van de Vijver, E.2
Weterman, M.A.J.3
de Boer, M.4
Tool, A.T.J.5
van den Berg, T.K.6
Moser, M.7
Jakobs, M.E.8
Seeger, K.9
Sanal, O.10
-
42
-
-
84923362619
-
Integrative analysis of 111 reference human epigenomes
-
Roadmap Epigenomics Consortium, Kundaje, A., Meuleman, W., Ernst, J., Bilenky, M., Yen, A., Heravi-Moussavi, A., Kheradpour, P., Zhang, Z., Wang, J., Ziller, M.J., et al. Integrative analysis of 111 reference human epigenomes. Nature 518 (2015), 317–330.
-
(2015)
Nature
, vol.518
, pp. 317-330
-
-
Kundaje, A.1
Meuleman, W.2
Ernst, J.3
Bilenky, M.4
Yen, A.5
Heravi-Moussavi, A.6
Kheradpour, P.7
Zhang, Z.8
Wang, J.9
Ziller, M.J.10
-
43
-
-
84976904305
-
ClinVar: public archive of interpretations of clinically relevant variants
-
Landrum, M.J., Lee, J.M., Benson, M., Brown, G., Chao, C., Chitipiralla, S., Gu, B., Hart, J., Hoffman, D., Hoover, J., et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 44:D1 (2016), D862–D868.
-
(2016)
Nucleic Acids Res.
, vol.44
, Issue.D1
, pp. D862-D868
-
-
Landrum, M.J.1
Lee, J.M.2
Benson, M.3
Brown, G.4
Chao, C.5
Chitipiralla, S.6
Gu, B.7
Hart, J.8
Hoffman, D.9
Hoover, J.10
-
44
-
-
84974569548
-
Inherited platelet disorders: toward DNA-based diagnosis
-
Lentaigne, C., Freson, K., Laffan, M.A., Turro, E., Ouwehand, W.H., BRIDGE-BPD Consortium and the ThromboGenomics Consortium. Inherited platelet disorders: toward DNA-based diagnosis. Blood 127 (2016), 2814–2823.
-
(2016)
Blood
, vol.127
, pp. 2814-2823
-
-
Lentaigne, C.1
Freson, K.2
Laffan, M.A.3
Turro, E.4
Ouwehand, W.H.5
-
45
-
-
84902511942
-
GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database
-
Leslie, R., O'Donnell, C.J., Johnson, A.D., GRASP: analysis of genotype-phenotype results from 1390 genome-wide association studies and corresponding open access database. Bioinformatics 30 (2014), i185–i194.
-
(2014)
Bioinformatics
, vol.30
, pp. i185-i194
-
-
Leslie, R.1
O'Donnell, C.J.2
Johnson, A.D.3
-
46
-
-
0037021557
-
Haptoglobin phenotype is an independent risk factor for cardiovascular disease in individuals with diabetes: The Strong Heart Study
-
Levy, A.P., Hochberg, I., Jablonski, K., Resnick, H.E., Lee, E.T., Best, L., Howard, B.V., Strong Heart Study. Haptoglobin phenotype is an independent risk factor for cardiovascular disease in individuals with diabetes: The Strong Heart Study. J. Am. Coll. Cardiol. 40 (2002), 1984–1990.
-
(2002)
J. Am. Coll. Cardiol.
, vol.40
, pp. 1984-1990
-
-
Levy, A.P.1
Hochberg, I.2
Jablonski, K.3
Resnick, H.E.4
Lee, E.T.5
Best, L.6
Howard, B.V.7
-
47
-
-
65349092897
-
Loss of pleckstrin defines a novel pathway for PKC-mediated exocytosis
-
Lian, L., Wang, Y., Flick, M., Choi, J., Scott, E.W., Degen, J., Lemmon, M.A., Abrams, C.S., Loss of pleckstrin defines a novel pathway for PKC-mediated exocytosis. Blood 113 (2009), 3577–3584.
-
(2009)
Blood
, vol.113
, pp. 3577-3584
-
-
Lian, L.1
Wang, Y.2
Flick, M.3
Choi, J.4
Scott, E.W.5
Degen, J.6
Lemmon, M.A.7
Abrams, C.S.8
-
48
-
-
84900476010
-
Analytical validation of whole exome and whole genome sequencing for clinical applications
-
Linderman, M.D., Brandt, T., Edelmann, L., Jabado, O., Kasai, Y., Kornreich, R., Mahajan, M., Shah, H., Kasarskis, A., Schadt, E.E., Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med. Genomics, 7, 2014, 20.
-
(2014)
BMC Med. Genomics
, vol.7
, pp. 20
-
-
Linderman, M.D.1
Brandt, T.2
Edelmann, L.3
Jabado, O.4
Kasai, Y.5
Kornreich, R.6
Mahajan, M.7
Shah, H.8
Kasarskis, A.9
Schadt, E.E.10
-
49
-
-
84924060689
-
Efficient Bayesian mixed-model analysis increases association power in large cohorts
-
Loh, P.-R., Tucker, G., Bulik-Sullivan, B.K., Vilhjálmsson, B.J., Finucane, H.K., Salem, R.M., Chasman, D.I., Ridker, P.M., Neale, B.M., Berger, B., et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat. Genet. 47 (2015), 284–290.
-
(2015)
Nat. Genet.
, vol.47
, pp. 284-290
-
-
Loh, P.-R.1
Tucker, G.2
Bulik-Sullivan, B.K.3
Vilhjálmsson, B.J.4
Finucane, H.K.5
Salem, R.M.6
Chasman, D.I.7
Ridker, P.M.8
Neale, B.M.9
Berger, B.10
-
50
-
-
84989838868
-
Reference-based phasing using the Haplotype Reference Consortium panel
-
Loh, P.-R., Danecek, P., Palamara, P.F., Fuchsberger, C., A Reshef, Y., K Finucane, H., Schoenherr, S., Forer, L., McCarthy, S., Abecasis, G.R., et al. Reference-based phasing using the Haplotype Reference Consortium panel. Nat. Genet. 48 (2016), 1443–1448.
-
(2016)
Nat. Genet.
, vol.48
, pp. 1443-1448
-
-
Loh, P.-R.1
Danecek, P.2
Palamara, P.F.3
Fuchsberger, C.4
A Reshef, Y.5
K Finucane, H.6
Schoenherr, S.7
Forer, L.8
McCarthy, S.9
Abecasis, G.R.10
-
51
-
-
56249083919
-
Inhibition of PCSK9 as a novel strategy for the treatment of hypercholesterolemia
-
Lopez, D., Inhibition of PCSK9 as a novel strategy for the treatment of hypercholesterolemia. Drug News Perspect. 21 (2008), 323–330.
-
(2008)
Drug News Perspect.
, vol.21
, pp. 323-330
-
-
Lopez, D.1
-
52
-
-
84973338712
-
The Ensembl Variant Effect Predictor
-
McLaren, W., Gil, L., Hunt, S.E., Riat, H.S., Ritchie, G.R.S., Thormann, A., Flicek, P., Cunningham, F., The Ensembl Variant Effect Predictor. Genome Biol., 17, 2016, 122.
-
(2016)
Genome Biol.
, vol.17
, pp. 122
-
-
McLaren, W.1
Gil, L.2
Hunt, S.E.3
Riat, H.S.4
Ritchie, G.R.S.5
Thormann, A.6
Flicek, P.7
Cunningham, F.8
-
53
-
-
84876951375
-
Meta-analysis of lymphocytes in schizophrenia: clinical status and antipsychotic effects
-
Miller, B.J., Gassama, B., Sebastian, D., Buckley, P., Mellor, A., Meta-analysis of lymphocytes in schizophrenia: clinical status and antipsychotic effects. Biol. Psychiatry 73 (2013), 993–999.
-
(2013)
Biol. Psychiatry
, vol.73
, pp. 993-999
-
-
Miller, B.J.1
Gassama, B.2
Sebastian, D.3
Buckley, P.4
Mellor, A.5
-
54
-
-
84955582450
-
Quantifying prion disease penetrance using large population control cohorts
-
Minikel, E.V., Vallabh, S.M., Lek, M., Estrada, K., Samocha, K.E., Sathirapongsasuti, J.F., McLean, C.Y., Tung, J.Y., Yu, L.P.C., Gambetti, P., et al., Exome Aggregation Consortium (ExAC). Quantifying prion disease penetrance using large population control cohorts. Sci. Transl. Med., 8, 2016, 322ra9.
-
(2016)
Sci. Transl. Med.
, vol.8
, pp. 322ra9
-
-
Minikel, E.V.1
Vallabh, S.M.2
Lek, M.3
Estrada, K.4
Samocha, K.E.5
Sathirapongsasuti, J.F.6
McLean, C.Y.7
Tung, J.Y.8
Yu, L.P.C.9
Gambetti, P.10
-
55
-
-
84886253792
-
Cytoskeleton in action: lissencephaly, a neuronal migration disorder
-
Moon, H.M., Wynshaw-Boris, A., Cytoskeleton in action: lissencephaly, a neuronal migration disorder. Wiley Interdiscip. Rev. Dev. Biol. 2 (2013), 229–245.
-
(2013)
Wiley Interdiscip. Rev. Dev. Biol.
, vol.2
, pp. 229-245
-
-
Moon, H.M.1
Wynshaw-Boris, A.2
-
56
-
-
84908142915
-
The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial
-
Moore, C., Sambrook, J., Walker, M., Tolkien, Z., Kaptoge, S., Allen, D., Mehenny, S., Mant, J., Di Angelantonio, E., Thompson, S.G., et al. The INTERVAL trial to determine whether intervals between blood donations can be safely and acceptably decreased to optimise blood supply: study protocol for a randomised controlled trial. Trials, 15, 2014, 363.
-
(2014)
Trials
, vol.15
, pp. 363
-
-
Moore, C.1
Sambrook, J.2
Walker, M.3
Tolkien, Z.4
Kaptoge, S.5
Allen, D.6
Mehenny, S.7
Mant, J.8
Di Angelantonio, E.9
Thompson, S.G.10
-
57
-
-
44249093233
-
Cell-free hemoglobin-based blood substitutes and risk of myocardial infarction and death: a meta-analysis
-
Natanson, C., Kern, S.J., Lurie, P., Banks, S.M., Wolfe, S.M., Cell-free hemoglobin-based blood substitutes and risk of myocardial infarction and death: a meta-analysis. JAMA 299 (2008), 2304–2312.
-
(2008)
JAMA
, vol.299
, pp. 2304-2312
-
-
Natanson, C.1
Kern, S.J.2
Lurie, P.3
Banks, S.M.4
Wolfe, S.M.5
-
58
-
-
84955164174
-
Distinct routes of lineage development reshape the human blood hierarchy across ontogeny
-
Notta, F., Zandi, S., Takayama, N., Dobson, S., Gan, O.I., Wilson, G., Kaufmann, K.B., McLeod, J., Laurenti, E., Dunant, C.F., et al. Distinct routes of lineage development reshape the human blood hierarchy across ontogeny. Science, 351, 2016, aab2116.
-
(2016)
Science
, vol.351
, pp. aab2116
-
-
Notta, F.1
Zandi, S.2
Takayama, N.3
Dobson, S.4
Gan, O.I.5
Wilson, G.6
Kaufmann, K.B.7
McLeod, J.8
Laurenti, E.9
Dunant, C.F.10
-
59
-
-
84976319226
-
Haplotype estimation for biobank-scale data sets
-
O'Connell, J., Sharp, K., Shrine, N., Wain, L., Hall, I., Tobin, M., Zagury, J.-F., Delaneau, O., Marchini, J., Haplotype estimation for biobank-scale data sets. Nat. Genet. 48 (2016), 817–820.
-
(2016)
Nat. Genet.
, vol.48
, pp. 817-820
-
-
O'Connell, J.1
Sharp, K.2
Shrine, N.3
Wain, L.4
Hall, I.5
Tobin, M.6
Zagury, J.-F.7
Delaneau, O.8
Marchini, J.9
-
60
-
-
84950290139
-
Transcriptional heterogeneity and lineage commitment in myeloid progenitors
-
Paul, F., Arkin, Y., Giladi, A., Jaitin, D.A., Kenigsberg, E., Keren-Shaul, H., Winter, D., Lara-Astiaso, D., Gury, M., Weiner, A., et al. Transcriptional heterogeneity and lineage commitment in myeloid progenitors. Cell 163 (2015), 1663–1677.
-
(2015)
Cell
, vol.163
, pp. 1663-1677
-
-
Paul, F.1
Arkin, Y.2
Giladi, A.3
Jaitin, D.A.4
Kenigsberg, E.5
Keren-Shaul, H.6
Winter, D.7
Lara-Astiaso, D.8
Gury, M.9
Weiner, A.10
-
61
-
-
84881315517
-
Validating therapeutic targets through human genetics
-
Plenge, R.M., Scolnick, E.M., Altshuler, D., Validating therapeutic targets through human genetics. Nat. Rev. Drug Discov. 12 (2013), 581–594.
-
(2013)
Nat. Rev. Drug Discov.
, vol.12
, pp. 581-594
-
-
Plenge, R.M.1
Scolnick, E.M.2
Altshuler, D.3
-
62
-
-
84994157724
-
Whole-exome sequencing identifies loci associated with blood cell traits and reveals a role for alternative GFI1B splice variants in human hematopoiesis
-
Polfus, L.M., Khajuria, R.K., Schick, U.M., Pankratz, N., Pazoki, R., Brody, J.A., Chen, M.-H., Auer, P.L., Floyd, J.S., Huang, J., et al. Whole-exome sequencing identifies loci associated with blood cell traits and reveals a role for alternative GFI1B splice variants in human hematopoiesis. Am. J. Hum. Genet. 99 (2016), 481–488.
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 481-488
-
-
Polfus, L.M.1
Khajuria, R.K.2
Schick, U.M.3
Pankratz, N.4
Pazoki, R.5
Brody, J.A.6
Chen, M.-H.7
Auer, P.L.8
Floyd, J.S.9
Huang, J.10
-
63
-
-
84964927929
-
A language and environment for statistical computing
-
R Foundation for Statistical Computing Vienna, Austria
-
R Core Team. A language and environment for statistical computing. 2014, R Foundation for Statistical Computing, Vienna, Austria.
-
(2014)
-
-
-
64
-
-
0030732425
-
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency
-
Romano, M., Dri, P., Da Dalt, L., Patriarca, P., Baralle, F.E., Biochemical and molecular characterization of hereditary myeloperoxidase deficiency. Blood 90 (1997), 4126–4134.
-
(1997)
Blood
, vol.90
, pp. 4126-4134
-
-
Romano, M.1
Dri, P.2
Da Dalt, L.3
Patriarca, P.4
Baralle, F.E.5
-
65
-
-
84919391100
-
Hypereosinophilia and seroconversion of rheumatoid arthritis
-
Rosenstein, R.K., Panush, R.S., Kramer, N., Rosenstein, E.D., Hypereosinophilia and seroconversion of rheumatoid arthritis. Clin. Rheumatol. 33 (2014), 1685–1688.
-
(2014)
Clin. Rheumatol.
, vol.33
, pp. 1685-1688
-
-
Rosenstein, R.K.1
Panush, R.S.2
Kramer, N.3
Rosenstein, E.D.4
-
66
-
-
84901423053
-
ICON: the early diagnosis of congenital immunodeficiencies
-
Routes, J., Abinun, M., Al-Herz, W., Bustamante, J., Condino-Neto, A., De La Morena, M.T., Etzioni, A., Gambineri, E., Haddad, E., Kobrynski, L., et al. ICON: the early diagnosis of congenital immunodeficiencies. J. Clin. Immunol. 34 (2014), 398–424.
-
(2014)
J. Clin. Immunol.
, vol.34
, pp. 398-424
-
-
Routes, J.1
Abinun, M.2
Al-Herz, W.3
Bustamante, J.4
Condino-Neto, A.5
De La Morena, M.T.6
Etzioni, A.7
Gambineri, E.8
Haddad, E.9
Kobrynski, L.10
-
67
-
-
84978634344
-
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
-
Roy, N.B.A., Wilson, E.A., Henderson, S., Wray, K., Babbs, C., Okoli, S., Atoyebi, W., Mixon, A., Cahill, M.R., Carey, P., et al. A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br. J. Haematol. 175 (2016), 318–330.
-
(2016)
Br. J. Haematol.
, vol.175
, pp. 318-330
-
-
Roy, N.B.A.1
Wilson, E.A.2
Henderson, S.3
Wray, K.4
Babbs, C.5
Okoli, S.6
Atoyebi, W.7
Mixon, A.8
Cahill, M.R.9
Carey, P.10
-
68
-
-
84905111492
-
Mean platelet volume and coronary artery disease: a systematic review and meta-analysis
-
Sansanayudh, N., Anothaisintawee, T., Muntham, D., McEvoy, M., Attia, J., Thakkinstian, A., Mean platelet volume and coronary artery disease: a systematic review and meta-analysis. Int. J. Cardiol. 175 (2014), 433–440.
-
(2014)
Int. J. Cardiol.
, vol.175
, pp. 433-440
-
-
Sansanayudh, N.1
Anothaisintawee, T.2
Muntham, D.3
McEvoy, M.4
Attia, J.5
Thakkinstian, A.6
-
69
-
-
80051684615
-
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
-
Sawcer, S., Hellenthal, G., Pirinen, M., Spencer, C.C., Patsopoulos, N.A., Moutsianas, L., Dilthey, A., Su, Z., Freeman, C., Hunt, S.E., et al. International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 476 (2011), 214–219.
-
(2011)
Nature
, vol.476
, pp. 214-219
-
-
Sawcer, S.1
Hellenthal, G.2
Pirinen, M.3
Spencer, C.C.4
Patsopoulos, N.A.5
Moutsianas, L.6
Dilthey, A.7
Su, Z.8
Freeman, C.9
Hunt, S.E.10
-
70
-
-
84958110766
-
Impact of red blood cells count on the relationship between high density lipoproteins and the prevalence and extent of coronary artery disease: a single centre study [corrected]
-
Schaffer, A., Verdoia, M., Cassetti, E., Barbieri, L., Perrone-Filardi, P., Marino, P., De Luca, G., Impact of red blood cells count on the relationship between high density lipoproteins and the prevalence and extent of coronary artery disease: a single centre study [corrected]. J. Thromb. Thrombolysis 40 (2015), 61–68.
-
(2015)
J. Thromb. Thrombolysis
, vol.40
, pp. 61-68
-
-
Schaffer, A.1
Verdoia, M.2
Cassetti, E.3
Barbieri, L.4
Perrone-Filardi, P.5
Marino, P.6
De Luca, G.7
-
71
-
-
84957838060
-
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans
-
Schick, U.M., Jain, D., Hodonsky, C.J., Morrison, J.V., Davis, J.P., Brown, L., Sofer, T., Conomos, M.P., Schurmann, C., McHugh, C.P., et al. Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. Am. J. Hum. Genet. 98 (2016), 229–242.
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 229-242
-
-
Schick, U.M.1
Jain, D.2
Hodonsky, C.J.3
Morrison, J.V.4
Davis, J.P.5
Brown, L.6
Sofer, T.7
Conomos, M.P.8
Schurmann, C.9
McHugh, C.P.10
-
72
-
-
84930389246
-
Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults
-
Schneider, M., Chandler, K., Tischkowitz, M., Meyer, S., Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults. Clin. Genet. 88 (2015), 13–24.
-
(2015)
Clin. Genet.
, vol.88
, pp. 13-24
-
-
Schneider, M.1
Chandler, K.2
Tischkowitz, M.3
Meyer, S.4
-
73
-
-
84958074030
-
Schizophrenia risk from complex variation of complement component 4
-
Sekar, A., Bialas, A.R., de Rivera, H., Davis, A., Hammond, T.R., Kamitaki, N., Tooley, K., Presumey, J., Baum, M., Van Doren, V., et al., Schizophrenia Working Group of the Psychiatric Genomics Consortium. Schizophrenia risk from complex variation of complement component 4. Nature 530 (2016), 177–183.
-
(2016)
Nature
, vol.530
, pp. 177-183
-
-
Sekar, A.1
Bialas, A.R.2
de Rivera, H.3
Davis, A.4
Hammond, T.R.5
Kamitaki, N.6
Tooley, K.7
Presumey, J.8
Baum, M.9
Van Doren, V.10
-
74
-
-
0035173378
-
dbSNP: the NCBI database of genetic variation
-
Sherry, S.T., Ward, M.H., Kholodov, M., Baker, J., Phan, L., Smigielski, E.M., Sirotkin, K., dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 29 (2001), 308–311.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
75
-
-
0036144099
-
Red blood cell hemolysis during processing
-
Sowemimo-Coker, S.O., Red blood cell hemolysis during processing. Transfus. Med. Rev. 16 (2002), 46–60.
-
(2002)
Transfus. Med. Rev.
, vol.16
, pp. 46-60
-
-
Sowemimo-Coker, S.O.1
-
76
-
-
84995469357
-
PhenoScanner: a database of human genotype-phenotype associations
-
Staley, J.R., Blackshaw, J., Kamat, M.A., Ellis, S., Surendran, P., Sun, B.B., Paul, D.S., Freitag, D., Burgess, S., Danesh, J., et al. PhenoScanner: a database of human genotype-phenotype associations. Bioinformatics 32 (2016), 3207–3209.
-
(2016)
Bioinformatics
, vol.32
, pp. 3207-3209
-
-
Staley, J.R.1
Blackshaw, J.2
Kamat, M.A.3
Ellis, S.4
Surendran, P.5
Sun, B.B.6
Paul, D.S.7
Freitag, D.8
Burgess, S.9
Danesh, J.10
-
77
-
-
84891837451
-
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
-
Stenson, P.D., Mort, M., Ball, E.V., Shaw, K., Phillips, A., Cooper, D.N., The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 133 (2014), 1–9.
-
(2014)
Hum. Genet.
, vol.133
, pp. 1-9
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
Shaw, K.4
Phillips, A.5
Cooper, D.N.6
-
78
-
-
84926430250
-
UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age
-
Sudlow, C., Gallacher, J., Allen, N., Beral, V., Burton, P., Danesh, J., Downey, P., Elliott, P., Green, J., Landray, M., et al. UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age. PLoS Med., 12, 2015, e1001779.
-
(2015)
PLoS Med.
, vol.12
, pp. e1001779
-
-
Sudlow, C.1
Gallacher, J.2
Allen, N.3
Beral, V.4
Burton, P.5
Danesh, J.6
Downey, P.7
Elliott, P.8
Green, J.9
Landray, M.10
-
79
-
-
84989906739
-
Large-scale exome-wide association analysis identifies loci for white blood cell traits and pleiotropy with immune-mediated diseases
-
Tajuddin, S.M., Schick, U.M., Eicher, J.D., Chami, N., Giri, A., Brody, J.A., Hill, W.D., Kacprowski, T., Li, J., Lyytikäinen, L.-P., et al. Large-scale exome-wide association analysis identifies loci for white blood cell traits and pleiotropy with immune-mediated diseases. Am. J. Hum. Genet. 99 (2016), 22–39.
-
(2016)
Am. J. Hum. Genet.
, vol.99
, pp. 22-39
-
-
Tajuddin, S.M.1
Schick, U.M.2
Eicher, J.D.3
Chami, N.4
Giri, A.5
Brody, J.A.6
Hill, W.D.7
Kacprowski, T.8
Li, J.9
Lyytikäinen, L.-P.10
-
80
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
Tennessen, J.A., Bigham, A.W., O'Connor, T.D., Fu, W., Kenny, E.E., Gravel, S., McGee, S., Do, R., Liu, X., Jun, G., et al. Broad GO Seattle GO, NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337 (2012), 64–69.
-
(2012)
Science
, vol.337
, 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
McGee, S.7
Do, R.8
Liu, X.9
Jun, G.10
-
81
-
-
84943182742
-
The UK10K project identifies rare variants in health and disease
-
UK10K Consortium, Walter, K., Min, J.L., Huang, J., Crooks, L., Memari, Y., McCarthy, S., Perry, J.R., Xu, C., Futema, M., et al. The UK10K project identifies rare variants in health and disease. Nature 526 (2015), 82–90.
-
(2015)
Nature
, vol.526
, pp. 82-90
-
-
Walter, K.1
Min, J.L.2
Huang, J.3
Crooks, L.4
Memari, Y.5
McCarthy, S.6
Perry, J.R.7
Xu, C.8
Futema, M.9
-
82
-
-
84971578930
-
Systematic functional dissection of common genetic variation affecting red blood cell traits
-
Ulirsch, J.C., Nandakumar, S.K., Wang, L., Giani, F.C., Zhang, X., Rogov, P., Melnikov, A., McDonel, P., Do, R., Mikkelsen, T.S., Sankaran, V.G., Systematic functional dissection of common genetic variation affecting red blood cell traits. Cell 165 (2016), 1530–1545.
-
(2016)
Cell
, vol.165
, pp. 1530-1545
-
-
Ulirsch, J.C.1
Nandakumar, S.K.2
Wang, L.3
Giani, F.C.4
Zhang, X.5
Rogov, P.6
Melnikov, A.7
McDonel, P.8
Do, R.9
Mikkelsen, T.S.10
Sankaran, V.G.11
-
83
-
-
84922051536
-
“Aged sample” software on automated routine hematology analyzer enables differentiation between pathological and non-pathological WBC flagging in aging samples
-
Ulset, R.A., Petrasch, E., Saker, J., Linssen, J., Kimura, K., Uchihashi, K., Philipsen, P., Eide, A., “Aged sample” software on automated routine hematology analyzer enables differentiation between pathological and non-pathological WBC flagging in aging samples. Clin. Lab. 60 (2014), 1961–1968.
-
(2014)
Clin. Lab.
, vol.60
, pp. 1961-1968
-
-
Ulset, R.A.1
Petrasch, E.2
Saker, J.3
Linssen, J.4
Kimura, K.5
Uchihashi, K.6
Philipsen, P.7
Eide, A.8
-
84
-
-
84871464519
-
Seventy-five genetic loci influencing the human red blood cell
-
van der Harst, P., Zhang, W., Mateo Leach, I., Rendon, A., Verweij, N., Sehmi, J., Paul, D.S., Elling, U., Allayee, H., Li, X., et al. Seventy-five genetic loci influencing the human red blood cell. Nature 492 (2012), 369–375.
-
(2012)
Nature
, vol.492
, pp. 369-375
-
-
van der Harst, P.1
Zhang, W.2
Mateo Leach, I.3
Rendon, A.4
Verweij, N.5
Sehmi, J.6
Paul, D.S.7
Elling, U.8
Allayee, H.9
Li, X.10
-
85
-
-
84927613295
-
Macrophages: development and tissue specialization
-
Varol, C., Mildner, A., Jung, S., Macrophages: development and tissue specialization. Annu. Rev. Immunol. 33 (2015), 643–675.
-
(2015)
Annu. Rev. Immunol.
, vol.33
, pp. 643-675
-
-
Varol, C.1
Mildner, A.2
Jung, S.3
-
86
-
-
84974605577
-
From GWAS to function: lessons from blood cells
-
Vasquez, L.J., Mann, A.L., Chen, L., Soranzo, N., From GWAS to function: lessons from blood cells. ISBT Sci. Ser. 11:Suppl, Suppl 1 (2016), 211–219.
-
(2016)
ISBT Sci. Ser.
, vol.11
, pp. 211-219
-
-
Vasquez, L.J.1
Mann, A.L.2
Chen, L.3
Soranzo, N.4
-
87
-
-
84864845456
-
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
-
Voight, B.F., Peloso, G.M., Orho-Melander, M., Frikke-Schmidt, R., Barbalic, M., Jensen, M.K., Hindy, G., Hólm, H., Ding, E.L., Johnson, T., et al. Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet 380 (2012), 572–580.
-
(2012)
Lancet
, vol.380
, pp. 572-580
-
-
Voight, B.F.1
Peloso, G.M.2
Orho-Melander, M.3
Frikke-Schmidt, R.4
Barbalic, M.5
Jensen, M.K.6
Hindy, G.7
Hólm, H.8
Ding, E.L.9
Johnson, T.10
-
88
-
-
84943428582
-
Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank
-
Wain, L.V., Shrine, N., Miller, S., Jackson, V.E., Ntalla, I., Soler Artigas, M., Billington, C.K., Kheirallah, A.K., Allen, R., Cook, J.P., et al. UK Brain Expression Consortium (UKBEC), OxGSK Consortium. Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. Lancet Respir. Med. 3 (2015), 769–781.
-
(2015)
Lancet Respir. Med.
, vol.3
, pp. 769-781
-
-
Wain, L.V.1
Shrine, N.2
Miller, S.3
Jackson, V.E.4
Ntalla, I.5
Soler Artigas, M.6
Billington, C.K.7
Kheirallah, A.K.8
Allen, R.9
Cook, J.P.10
-
89
-
-
84891790401
-
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
-
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., Parkinson, H., The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 42 (2014), D1001–D1006.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D1001-D1006
-
-
Welter, D.1
MacArthur, J.2
Morales, J.3
Burdett, T.4
Hall, P.5
Junkins, H.6
Klemm, A.7
Flicek, P.8
Manolio, T.9
Hindorff, L.10
Parkinson, H.11
-
90
-
-
84928789885
-
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
-
Westbury, S.K., Turro, E., Greene, D., Lentaigne, C., Kelly, A.M., Bariana, T.K., Simeoni, I., Pillois, X., Attwood, A., Austin, S., et al., BRIDGE-BPD Consortium. Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders. Genome Med., 7, 2015, 36.
-
(2015)
Genome Med.
, vol.7
, pp. 36
-
-
Westbury, S.K.1
Turro, E.2
Greene, D.3
Lentaigne, C.4
Kelly, A.M.5
Bariana, T.K.6
Simeoni, I.7
Pillois, X.8
Attwood, A.9
Austin, S.10
-
91
-
-
3242876561
-
Associations between differential leucocyte count and incident coronary heart disease: 1764 incident cases from seven prospective studies of 30,374 individuals
-
Wheeler, J.G., Mussolino, M.E., Gillum, R.F., Danesh, J., Associations between differential leucocyte count and incident coronary heart disease: 1764 incident cases from seven prospective studies of 30,374 individuals. Eur. Heart J. 25 (2004), 1287–1292.
-
(2004)
Eur. Heart J.
, vol.25
, pp. 1287-1292
-
-
Wheeler, J.G.1
Mussolino, M.E.2
Gillum, R.F.3
Danesh, J.4
-
92
-
-
77955894071
-
METAL: fast and efficient meta-analysis of genomewide association scans
-
Willer, C.J., Li, Y., Abecasis, G.R., METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26 (2010), 2190–2191.
-
(2010)
Bioinformatics
, vol.26
, pp. 2190-2191
-
-
Willer, C.J.1
Li, Y.2
Abecasis, G.R.3
-
93
-
-
78650862532
-
Fast stable restricted maximum likelihood and marginal likelihood estimation of semiparametric generalized linear models
-
Wood, S.N., Fast stable restricted maximum likelihood and marginal likelihood estimation of semiparametric generalized linear models. J. R. Stat. Soc. Series B Stat. Methodol. 73 (2011), 3–36.
-
(2011)
J. R. Stat. Soc. Series B Stat. Methodol.
, vol.73
, pp. 3-36
-
-
Wood, S.N.1
-
94
-
-
84899084791
-
Estimating genome-wide significance for whole-genome sequencing studies
-
Xu, C., Tachmazidou, I., Walter, K., Ciampi, A., Zeggini, E., Greenwood, C.M., UK10K Consortium. Estimating genome-wide significance for whole-genome sequencing studies. Genet. Epidemiol. 38 (2014), 281–290.
-
(2014)
Genet. Epidemiol.
, vol.38
, pp. 281-290
-
-
Xu, C.1
Tachmazidou, I.2
Walter, K.3
Ciampi, A.4
Zeggini, E.5
Greenwood, C.M.6
-
95
-
-
84961927084
-
Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets
-
Zhu, Z., Zhang, F., Hu, H., Bakshi, A., Robinson, M.R., Powell, J.E., Montgomery, G.W., Goddard, M.E., Wray, N.R., Visscher, P.M., Yang, J., Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nat. Genet. 48 (2016), 481–487.
-
(2016)
Nat. Genet.
, vol.48
, pp. 481-487
-
-
Zhu, Z.1
Zhang, F.2
Hu, H.3
Bakshi, A.4
Robinson, M.R.5
Powell, J.E.6
Montgomery, G.W.7
Goddard, M.E.8
Wray, N.R.9
Visscher, P.M.10
Yang, J.11
-
96
-
-
42449113422
-
Very young children with uncomplicated falciparum malaria have higher risk of hypoglycaemia: a study from Suriname
-
Zijlmans, W.C.W.R., van Kempen, A.A.M.W., Ackermans, M.T., de Metz, J., Kager, P.A., Sauerwein, H.P., Very young children with uncomplicated falciparum malaria have higher risk of hypoglycaemia: a study from Suriname. Trop. Med. Int. Health 13 (2008), 626–634.
-
(2008)
Trop. Med. Int. Health
, vol.13
, pp. 626-634
-
-
Zijlmans, W.C.W.R.1
van Kempen, A.A.M.W.2
Ackermans, M.T.3
de Metz, J.4
Kager, P.A.5
Sauerwein, H.P.6
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