Gene Ontology: tool for the unification of biology
21 auth.
Michael Ashburner,
C. Ball,
J. Blake,
D. Botstein,
Heather L. Butler,
J. Cherry,
A. P. Davis,
K. Dolinski,
S. Dwight,
J. Eppig,
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M. Harris,
D. Hill,
L. Issel-Tarver,
A. Kasarskis,
S. Lewis,
J. Matese,
J. Richardson,
Martin,
Ringwald,
G. Rubin,
G. Sherlock
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15 |
2000 |
15
2000
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
18 auth.
M. DePristo,
E. Banks,
R. Poplin,
K. Garimella,
J. Maguire,
C. Hartl,
A. Philippakis,
G. Del Angel,
M. Rivas,
M. Hanna,
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A. McKenna,
T. Fennell,
A. Kernytsky,
A. Sivachenko,
K. Cibulskis,
S. Gabriel,
D. Altshuler,
M. Daly
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13 |
2011 |
13
2011
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Principal components analysis corrects for stratification in genome-wide association studies
A. Price,
N. Patterson,
R. Plenge,
M. Weinblatt,
N. Shadick,
D. Reich
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13 |
2006 |
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2006
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PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
21 auth.
V. Mootha,
C. Lindgren,
K. Eriksson,
A. Subramanian,
S. Sihag,
J. Lehár,
P. Puigserver,
E. Carlsson,
M. Ridderstråle,
E. Laurila,
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N. Houstis,
M. Daly,
N. Patterson,
J. Mesirov,
T. Golub,
P. Tamayo,
B. Spiegelman,
E. Lander,
J. Hirschhorn,
D. Altshuler,
L. Groop
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12 |
2003 |
12
2003
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The Genotype-Tissue Expression (GTEx) project
127 auth.
J. Lonsdale,
Jeffrey A. Thomas,
Mike Salvatore,
R. Phillips,
E. Lo,
Saboor Shad,
R. Hasz,
Gary Walters,
Fernando García,
Nancy Young,
B. Foster,
Michael Moser,
E. Karasik,
Bryan M. Gillard,
Kimberley D. Ramsey,
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Susan Sullivan,
J. Bridge,
Harold Magazine,
John Syron,
Johnelle Fleming,
L. Siminoff,
H. Traino,
M. Mosavel,
Laura K. Barker,
S. Jewell,
D. Rohrer,
D. Maxim,
Dana Filkins,
P. Harbach,
Eddie Cortadillo,
Bree D. Berghuis,
L. Turner,
E. Hudson,
Kristin Feenstra,
L. Sobin,
J. Robb,
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G. Korzeniewski,
C. Shive,
D. Tabor,
L. Qi,
K. Groch,
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Stephen A. Buia,
Angela M. Zimmerman,
Anna Smith,
R. Burges,
Karna L. Robinson,
Kimberly M. Valentino,
Debra Bradbury,
M. Cosentino,
Norma A. Diaz-Mayoral,
M. Kennedy,
T. Engel,
Penelope Williams,
Kenyon Erickson,
K. Ardlie,
W. Winckler,
G. Getz,
D. DeLuca,
D. MacArthur,
Manolis Kellis,
Alexander Thomson,
Taylor R. Young,
Ellen T. Gelfand,
M. Donovan,
Y. Meng,
George B. Grant,
D. Mash,
Yvonne Marcus,
Margaret J. Basile,
Jun Liu,
Jun Zhu,
Zhidong Tu,
N. Cox,
D. Nicolae,
E. Gamazon,
H. Im,
A. Konkashbaev,
J. Pritchard,
Matthew Stevens,
T. Flutre,
Xiaoquan Wen,
E. Dermitzakis,
T. Lappalainen,
R. Guigó,
Jean Monlong,
M. Sammeth,
D. Koller,
A. Battle,
S. Mostafavi,
M. McCarthy,
Manual Rivas,
J. Maller,
I. Rusyn,
A. Nobel,
F. Wright,
A. Shabalin,
M. Feolo,
N. Sharopova,
Anne Sturcke,
J. Paschal,
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Joy T. Boyer,
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M. Guyer,
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C. Compton,
J. Vaught,
Sherilyn J. Sawyer,
N. Lockhart,
J. Demchok,
H. Moore
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12 |
2013 |
12
2013
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The Cancer Genome Atlas Pan-Cancer analysis project
9 auth.
J. Weinstein,
E. Collisson,
G. Mills,
K. Shaw,
B. Ozenberger,
K. Ellrott,
...
I. Shmulevich,
C. Sander,
Joshua M. Stuart
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12 |
2013 |
12
2013
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Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals
R. Jaenisch,
A. Bird
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12 |
2003 |
12
2003
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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
11 auth.
P. Frosst,
H. J. Blom,
R. Milos,
P. Goyette,
C. Sheppard,
R. G. Matthews,
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G. Boers,
M. den Heijer,
L. Kluijtmans,
L. P. van den Heuve,
R. Rozen
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12 |
1995 |
12
1995
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A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher,
D. Witten,
Preti Jain,
B. O’Roak,
G. Cooper,
J. Shendure
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12 |
2014 |
12
2014
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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
E. Lander,
L. Kruglyak
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12 |
1995 |
12
1995
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Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
M. Verbanck,
Chia-Yen Chen,
B. Neale,
R. Do
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12 |
2018 |
12
2018
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Generalized lacZ expression with the ROSA26 Cre reporter strain
Philippe Soriano
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12 |
1999 |
12
1999
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
R. Amir,
I. V. D. Veyver,
Mimi Wan,
Charles Q. Tran,
U. Francke,
H. Zoghbi
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12 |
1999 |
12
1999
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Combinatorial microRNA target predictions
11 auth.
A. Krek,
Dominic Grün,
Matthew N. Poy,
Rachel Z. Wolf,
Lauren Rosenberg,
E. J. Epstein,
...
P. MacMenamin,
I. Piedade,
K. Gunsalus,
M. Stoffel,
N. Rajewsky
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12 |
2005 |
12
2005
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LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
9 auth.
B. Bulik-Sullivan,
Po-Ru Loh,
H. Finucane,
S. Ripke,
Jian Yang,
N. Patterson,
...
M. Daly,
A. Price,
B. Neale
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12 |
2014 |
12
2014
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Common SNPs explain a large proportion of the heritability for human height
12 auth.
Jian Yang,
Beben Benyamin,
Brian P. McEvoy,
S. Gordon,
A. Henders,
D. Nyholt,
...
P. Madden,
A. Heath,
N. Martin,
G. Montgomery,
M. Goddard,
P. Visscher
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12 |
2010 |
12
2010
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Minimum information about a microarray experiment (MIAME)—toward standards for microarray data
24 auth.
A. Brazma,
P. Hingamp,
John Quackenbush,
G. Sherlock,
P. Spellman,
C. Stoeckert,
John D Aach,
W. Ansorge,
C. Ball,
H. Causton,
...
T. Gaasterland,
Patrick Glenisson,
F. Holstege,
Irene F. Kim,
V. Markowitz,
J. Matese,
H. Parkinson,
A. Robinson,
Ugis Sarkans,
S. Schulze-Kremer,
Jason E. Stewart,
Ronald C. Taylor,
J. Vilo,
M. Vingron
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12 |
2001 |
12
2001
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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease
182 auth.
J. Lambert,
C. Ibrahim-Verbaas,
D. Harold,
A. Naj,
R. Sims,
C. Bellenguez,
G. Jun,
A. Destefano,
J. Bis,
G. Beecham,
B. Grenier‐Boley,
G. Russo,
T. Thornton-Wells,
N. Jones,
A. Smith,
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V. Chouraki,
C. Thomas,
M. Ikram,
D. Zélénika,
B. Vardarajan,
Y. Kamatani,
Chiao-Feng Lin,
A. Gerrish,
H. Schmidt,
B. Kunkle,
M. Dunstan,
A. Ruiz,
M. Bihoreau,
S. Choi,
C. Reitz,
F. Pasquier,
P. Hollingworth,
A. Ramírez,
O. Hanon,
A. Fitzpatrick,
J. Buxbaum,
D. Campion,
P. Crane,
C. Baldwin,
T. Becker,
V. Gudnason,
C. Cruchaga,
D. Craig,
N. Amin,
C. Berr,
O. Lopez,
P. D. Jager,
V. Deramecourt,
J. Johnston,
D. Evans,
S. Lovestone,
L. Letenneur,
F. Morón,
D. Rubinsztein,
G. Eiriksdottir,
K. Sleegers,
A. Goate,
N. Fievet,
M. Huentelman,
M. Gill,
K. Brown,
M. Kamboh,
L. Keller,
P. Barberger‐Gateau,
B. McGuinness,
E. Larson,
R. Green,
A. Myers,
C. Dufouil,
S. Todd,
D. Wallon,
S. Love,
E. Rogaeva,
J. Gallacher,
P. George-Hyslop,
J. Clarimón,
A. Lleó,
A. Bayer,
D. Tsuang,
Lei Yu,
M. Tsolaki,
P. Bossù,
G. Spalletta,
P. Proitsi,
J. Collinge,
S. Sorbi,
F. Sánchez‐garcía,
Nick C Fox,
J. Hardy,
M. Naranjo,
P. Bosco,
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D. Galimberti,
M. Mancuso,
F. Matthews,
S. Moebus,
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M. Zompo,
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M. Bullido,
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J. Gilbert,
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L. Lannfelt,
H. Hakonarson,
S. Pichler,
M. Carrasquillo,
M. Ingelsson,
D. Beekly,
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E. Coto,
K. Hamilton-Nelson,
W. Gu,
C. Razquín,
P. Pastor,
I. Mateo,
M. Owen,
K. Faber,
P. Jonsson,
O. Combarros,
M. O’Donovan,
L. Cantwell,
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D. Blacker,
S. Mead,
T. Mosley,
D. Bennett,
T. Harris,
L. Fratiglioni,
C. Holmes,
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P. Passmore,
T. Montine,
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J. Rotter,
A. Brice,
K. Morgan,
T. Foroud,
W. Kukull,
D. Hannequin,
J. Powell,
M. Nalls,
K. Ritchie,
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J. Kauwe,
E. Boerwinkle,
M. Riemenschneider,
M. Boada,
M. Hiltunen,
E. Martin,
R. Schmidt,
D. Rujescu,
Li-San Wang,
J. Dartigues,
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L. Jones,
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P. Holmans,
M. Lathrop,
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Julie Williams,
G. Schellenberg,
P. Amouyel
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11 |
2013 |
11
2013
|
A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
33 auth.
J. Feder,
A. Gnirke,
W. Thomas,
Z. Tsuchihashi,
D. Ruddy,
A. Basava,
F. Dormishian,
R. Domingo,
M. C. Ellis,
A. Fullan,
L. Hinton,
Norman Jones,
B. Kimmel,
G. S. Kronmal,
Peter M. San Francisco Lauer,
...
V. Lee,
D. Loeb,
F. Mapa,
E. McClelland,
N. Meyer,
G. Mintier,
N. Moeller,
T. Moore,
E. Morikang,
C. Prass,
L. Quintana,
S. Starnes,
R. Schatzman,
K. Brunke,
D. Drayna,
N. Risch,
B. Bacon,
R. Wolff
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11 |
1996 |
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1996
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Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells
H. Niwa,
J. Miyazaki,
Austin G Smith
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11 |
2000 |
11
2000
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A unified mixed-model method for association mapping that accounts for multiple levels of relatedness
12 auth.
Jianming Yu,
G. Pressoir,
W. Briggs,
I. V. Bi,
M. Yamasaki,
J. Doebley,
...
M. McMullen,
B. Gaut,
D. Nielsen,
J. Holland,
S. Kresovich,
E. Buckler
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11 |
2006 |
11
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