The mutational constraint spectrum quantified from variation in 141,456 humans
2020· article· en· Nature· Biochemistry, Genetics and Molecular Biology
aff
10 127
citations
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CRISPR Provides Acquired Resistance Against Viruses in Prokaryotes
2007· article· en· Science· Environmental Science
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6 292
citations
CellProfiler: image analysis software for identifying and quantifying cell phenotypes
2006· article· en· Genome biology· Biochemistry, Genetics and Molecular Biology
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5 483
citations
Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach
2014· article· en· Nature Communications· Medicine
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5 145
citations
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
2011· article· de· Neuron· Medicine
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4 971
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Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
2012· review· en· Nature· Biochemistry, Genetics and Molecular Biology
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4 859
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Biological, clinical and population relevance of 95 loci for blood lipids
2010· review· en· Nature· Biochemistry, Genetics and Molecular Biology
affsans résumé
3 685
citations
Toward an Integrated Clinical, Molecular and Serological Classification of Inflammatory Bowel Disease: Report of a Working Party of the 2005 Montreal World Congress of Gastroenterology
2005· article· en· Canadian Journal of Gastroenterology· Biochemistry, Genetics and Molecular Biology
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3 392
citations
3 133
citations
3 117
citations
TREM2 Variants in Alzheimer's Disease
2012· review· en· New England Journal of Medicine· Neuroscience
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3 083
citations
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
2008· review· en· Nature Reviews Genetics· Biochemistry, Genetics and Molecular Biology
affsans résumé
2 960
citations
Detection of large-scale variation in the human genome
2004· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
affsans résumé
2 910
citations
Tumour evolution inferred by single-cell sequencing
2011· article· en· Nature· Biochemistry, Genetics and Molecular Biology
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2 719
citations
Single-Cell Mass Cytometry of Differential Immune and Drug Responses Across a Human Hematopoietic Continuum
2011· article· en· Science· Biochemistry, Genetics and Molecular Biology
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2 359
citations
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
2021· article· en· Nature· Biochemistry, Genetics and Molecular Biology
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2 295
citations
The Genetic Landscape of a Cell
2010· article· en· Science· Biochemistry, Genetics and Molecular Biology
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2 247
citations
22q11.2 deletion syndrome
2015· review· en· Nature Reviews Disease Primers· Biochemistry, Genetics and Molecular Biology
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2 238
citations
Systematic Genetic Analysis with Ordered Arrays of Yeast Deletion Mutants
2001· article· en· Science· Biochemistry, Genetics and Molecular Biology
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2 205
citations
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
2021· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
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2 182
citations
Global Mapping of the Yeast Genetic Interaction Network
2004· article· en· Science· Biochemistry, Genetics and Molecular Biology
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2 130
citations
Defining the role of common variation in the genomic and biological architecture of adult human height
2014· review· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
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2 096
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Hundreds of variants clustered in genomic loci and biological pathways affect human height
2010· article· en· Nature· Biochemistry, Genetics and Molecular Biology
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2 057
citations
Functional impact of global rare copy number variation in autism spectrum disorders
2010· article· en· Nature· Biochemistry, Genetics and Molecular Biology
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2 050
citations
Analysis of shared heritability in common disorders of the brain
2018· article· en· Science· Biochemistry, Genetics and Molecular Biology
aff
2 028
citations