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The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al. · Nature
Open access177 authors |
27 May 2020 |
10,422 |
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Genetic studies of body mass index yield new insights for obesity biology
The LifeLines Cohort Study et al. · Nature
Open access487 authors |
10 Feb 2015 |
4,954 |
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Discovery and refinement of loci associated with lipid levels
Cristen J. Willer et al. · Nature Genetics
Open access259 authors |
6 Oct 2013 |
3,319 |
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Synaptic, transcriptional and chromatin genes disrupted in autism
The DDD Study et al. · Nature
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29 Oct 2014 |
2,993 |
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Integrative approaches for large-scale transcriptome-wide association studies
Alexander Gusev et al. · Nature Genetics
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8 Feb 2016 |
2,834 |
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
Majid Nikpay et al. · Nature Genetics
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7 Sep 2015 |
2,733 |
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Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Urmo Võsa et al. · Nature Genetics
Open access114 authors |
Sep 2021 |
2,339 |
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Temporal development of the gut microbiome in early childhood from the TEDDY study
Christopher J. Stewart et al. · Nature
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Oct 2018 |
2,147 |
| 9 |
Defining the role of common variation in the genomic and biological architecture of adult human height
Andrew R. Wood et al. · Nature Genetics
446 authors |
5 Oct 2014 |
2,114 |
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Analysis of shared heritability in common disorders of the brain
Verneri Anttila et al. · Science
Open access577 authors |
21 Jun 2018 |
2,056 |
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New genetic loci link adipose and insulin biology to body fat distribution
Dmitry Shungin et al. · Nature
Open access410 authors |
10 Feb 2015 |
1,726 |
| 12 |
Large-scale association analysis identifies new risk loci for coronary artery disease
Panos Deloukas et al. · Nature Genetics
Open access183 authors |
2 Dec 2012 |
1,681 |
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Screening and prostate cancer mortality: results of the European Randomised Study of Screening for Prostate Cancer (ERSPC) at 13 years of follow-up
Fritz H. Schröder et al. · The Lancet
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6 Aug 2014 |
1,590 |
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
the Million Veteran Program et al. · Nature Genetics
Open access281 authors |
17 Sep 2018 |
1,523 |
| 15 |
Genome-wide association study identifies 74 loci associated with educational attainment
Aysu Okbay et al. · Nature
Open access256 authors |
10 May 2016 |
1,500 |
| 16 |
The evolutionary history of lethal metastatic prostate cancer
ICGC Prostate UK Group et al. · Nature
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31 Mar 2015 |
1,466 |
| 17 |
A genomic mutational constraint map using variation in 76,156 human genomes
Siwei Chen et al. · Nature
Open access238 authors |
6 Dec 2023 |
1,453 |
| 18 |
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Karol Estrada et al. · Nature Genetics
Open access180 authors |
15 Apr 2012 |
1,223 |
| 19 |
A structural variation reference for medical and population genetics
Ryan L. Collins et al. · Nature
Open access208 authors |
27 May 2020 |
1,205 |
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Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries
Mary Furlan Feitosa et al. · PLoS ONE
Open access273 authors |
18 Jun 2018 |
1,174 |
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses
LifeLines Cohort Study et al. · Nature Genetics
Open access188 authors |
18 Apr 2016 |
1,144 |
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Embedding Transition-Metal Atoms in Graphene: Structure, Bonding, and Magnetism
Arkady V. Krasheninnikov, Pekka Lehtinen, Adam Stuart Foster et al. · Physical Review Letters
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26 Mar 2009 |
1,143 |
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The power of genetic diversity in genome-wide association studies of lipids
Sarah E. Graham et al. · Nature
Open access527 authors |
9 Dec 2021 |
1,099 |
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Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts
Karani Santhanakrishnan Vimaleswaran et al. · PLoS Medicine
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5 Feb 2013 |
1,069 |
| 25 |
Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes
Angli Xue et al. · Nature Communications
Open access |
23 Jul 2018 |
1,036 |
| 26 |
A catalog of genetic loci associated with kidney function from analyses of a million individuals
Lifelines Cohort Study et al. · Nature Genetics
Open access329 authors |
31 May 2019 |
946 |
| 27 |
A saturated map of common genetic variants associated with human height
Loïc Yengo et al. · Nature
Open access632 authors |
12 Oct 2022 |
934 |
| 28 |
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
Cornelius A. Rietveld et al. · Science
Open access204 authors |
31 May 2013 |
919 |
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Common variants associated with plasma triglycerides and risk for coronary artery disease
Ron Do et al. · Nature Genetics
Open access263 authors |
6 Oct 2013 |
912 |
| 30 |
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
LifeLines Cohort Study et al. · Nature Genetics
Open access226 authors |
21 Dec 2012 |
893 |
| 31 |
Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA
Johannes Kettunen et al. · Nature Communications
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23 Mar 2016 |
842 |
| 32 |
Multi-ethnic genome-wide association study for atrial fibrillation
Carolina Roselli et al. · Nature Genetics
Open access218 authors |
8 Jun 2018 |
836 |
| 33 |
Association analyses based on false discovery rate implicate new loci for coronary artery disease
Christopher P. Nelson et al. · Nature Genetics
Open access |
17 Jul 2017 |
803 |
| 34 |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
Gail Davies et al. · Nature Communications
Open access222 authors |
22 May 2018 |
779 |
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The Polygenic and Monogenic Basis of Blood Traits and Diseases
Dragana Vuckovic et al. · Cell
Open access112 authors |
Sep 2020 |
758 |
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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Ming‐Huei Chen et al. · Cell
Open access110 authors |
Sep 2020 |
752 |
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Padhraig Gormley et al. · Nature Genetics
ReviewOpen access107 authors |
20 Jun 2016 |
722 |
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A 16-yr Follow-up of the European Randomized study of Screening for Prostate Cancer
Jonas Hugosson et al. · European Urology
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26 Feb 2019 |
716 |
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Tuning the Cytokine Responses: An Update on Interleukin (IL)-4 and IL-13 Receptor Complexes
Ilkka Junttila · Frontiers in Immunology
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7 Jun 2018 |
715 |
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Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
Aysu Okbay et al. · Nature Genetics
Open access300 authors |
31 Mar 2022 |
714 |
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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
Thomas W. Winkler et al. · PLoS Genetics
Open access439 authors |
Oct 2015 |
699 |
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The MLL recombinome of acute leukemias in 2017
Claus Meyer et al. · Leukemia
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13 Jul 2017 |
698 |
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Sonja I. Berndt et al. · Nature Genetics
Open access322 authors |
7 Apr 2013 |
688 |
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Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors
Ari Ahola‐Olli et al. · The American Journal of Human Genetics
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15 Dec 2016 |
678 |
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RAD51B in Familial Breast Cancer
Liisa M. Pelttari et al. · PLoS ONE
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5 May 2016 |
670 |
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Jack M. Fu et al. · Nature Genetics
Open access117 authors |
18 Aug 2022 |
665 |
| 47 |
Rare and low-frequency coding variants alter human adult height
Eirini Marouli et al. · Nature
Open access373 authors |
31 Jan 2017 |
665 |
| 48 |
Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
Nicole M. Warrington et al. · Nature Genetics
Open access208 authors |
May 2019 |
664 |
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Childhood Cardiovascular Risk Factors and Adult Cardiovascular Events
David R. Jacobs, Jessica Graus Woo, Alan R. Sinaiko et al. · New England Journal of Medicine
Open access |
4 Apr 2022 |
659 |
| 50 |
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
Nick R. G. Shrine et al. · Nature Genetics
Open access110 authors |
25 Feb 2019 |
615 |