The mutational constraint spectrum quantified from variation in 141,456 humans
2020· article· en· Nature· Biochemistry, Genetics and Molecular Biology
aff
10,127
citations
Works
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10,000+ workspage 1
CRISPR Provides Acquired Resistance Against Viruses in Prokaryotes
2007· article· en· Science· Environmental Science
aff
6,292
citations
CellProfiler: image analysis software for identifying and quantifying cell phenotypes
2006· article· en· Genome biology· Biochemistry, Genetics and Molecular Biology
fundno aff
5,483
citations
Decoding tumour phenotype by noninvasive imaging using a quantitative radiomics approach
2014· article· en· Nature Communications· Medicine
affno abstract
5,145
citations
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
2011· article· de· Neuron· Medicine
afffundno abstract
4,971
citations
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
2012· review· en· Nature· Biochemistry, Genetics and Molecular Biology
affno abstract
4,859
citations
Biological, clinical and population relevance of 95 loci for blood lipids
2010· review· en· Nature· Biochemistry, Genetics and Molecular Biology
affno abstract
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
affvenueabout
3,392
citations
3,133
citations
3,117
citations
TREM2 Variants in Alzheimer's Disease
2012· review· en· New England Journal of Medicine· Neuroscience
fundno aff
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
affno abstract
2,960
citations
Detection of large-scale variation in the human genome
2004· article· en· Nature Genetics· Biochemistry, Genetics and Molecular Biology
affno abstract
2,910
citations
Tumour evolution inferred by single-cell sequencing
2011· article· en· Nature· Biochemistry, Genetics and Molecular Biology
affno abstract
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
aff
2,359
citations
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
2021· article· en· Nature· Biochemistry, Genetics and Molecular Biology
aff
2,295
citations
The Genetic Landscape of a Cell
2010· article· en· Science· Biochemistry, Genetics and Molecular Biology
afffund
2,247
citations
22q11.2 deletion syndrome
2015· review· en· Nature Reviews Disease Primers· Biochemistry, Genetics and Molecular Biology
afffundno abstract
2,238
citations
Systematic Genetic Analysis with Ordered Arrays of Yeast Deletion Mutants
2001· article· en· Science· Biochemistry, Genetics and Molecular Biology
aff
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
affno abstract
2,182
citations
Global Mapping of the Yeast Genetic Interaction Network
2004· article· en· Science· Biochemistry, Genetics and Molecular Biology
aff
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
affno abstract
2,096
citations
Hundreds of variants clustered in genomic loci and biological pathways affect human height
2010· article· en· Nature· Biochemistry, Genetics and Molecular Biology
affno abstract
2,057
citations
Functional impact of global rare copy number variation in autism spectrum disorders
2010· article· en· Nature· Biochemistry, Genetics and Molecular Biology
afffundno abstract
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