Daniel G. MacArthur

114.1k citations
259 papers · 62.7k · 31 hit papers · h-index 91

Impact in

  • Genetics top 0.01%
    • Genomics and Rare Diseases
    • Genetic Associations and Epidemiology
    • Genomic variations and chromosomal abnormalities
    • Genetics and Neurodevelopmental Disorders
    • RNA modifications and cancer
    • RNA Research and Splicing
    • Genomics and Phylogenetic Studies

Papers in

    • Genomics and Rare Diseases 80
    • Genetic Associations and Epidemiology 51
    • Genomic variations and chromosomal abnormalities 31
    • Genetics and Physical Performance 22
    • Muscle Physiology and Disorders 36
    • RNA modifications and cancer 23
    • RNA Research and Splicing 22

Daniel G. MacArthur

251 papers receiving 61.6k citations

Daniel G. MacArthur's Hit Papers

Genome Sequencing for Diagnosing Rare Diseases 2024 · 101 citations
1010+3+6Years since publication2.0k4.0k6.0k

Peers

Daniel G. MacArthur
Comparison fields: 5 of 213
  • Genetics 26.9k
  • Molecular Biology 28.7k
  • Cancer Research 5.6k
  • Aging 459
  • Genetics 1.9k
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Daniel G. MacArthur relative to Joel N. Hirschhorn United States Joel N. Hirschhorn's profile →
Citations per field
00.5×1.5×
Joel N. Hirschhorn · 1×
Citations per year

Countries citing papers authored by Daniel G. MacArthur

Since Specialization
Citations

This map shows the geographic impact of Daniel G. MacArthur's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Daniel G. MacArthur with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Daniel G. MacArthur more than expected).

Fields of papers citing papers by Daniel G. MacArthur

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Daniel G. MacArthur. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Daniel G. MacArthur. The network helps show where Daniel G. MacArthur may publish in the future.

Co-authors

The 25 scholars most cited alongside Daniel G. MacArthur, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Daniel G. MacArthur Line = papers co-authored together Daniel G. MacArthur links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 259 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Analysis of protein-coding genetic variation in 60,706 humans
Hit paper breakdown →
20167751
2
The mutational constraint spectrum quantified from variation in 141,456 humans
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20206616
3
A map of human genome variation from population-scale sequencing
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20106317
4
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
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20153872
5
The GTEx Consortium atlas of genetic regulatory effects across human tissues
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20203066
6
Genetic effects on gene expression across human tissues
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20172831
7
Origins and functional impact of copy number variation in the human genome
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20091520
8
Transcriptome and genome sequencing uncovers functional variation in humans
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20131399
9
Guidelines for investigating causality of sequence variants in human disease
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2014964
10
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
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2012923
11
High-throughput discovery of novel developmental phenotypes
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2016899
12
Landscape of X chromosome inactivation across human tissues
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2017771
13
The UK10K project identifies rare variants in health and disease
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2015760
14
A genomic mutational constraint map using variation in 76,156 human genomes
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2023736
15
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
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2018717
16
A framework for the interpretation of de novo mutation in human disease
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2014704
17
ACTN3 Genotype Is Associated with Human Elite Athletic Performance
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2003683
18
Mapping the human genetic architecture of COVID-19
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2021641
19
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
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2016594
20
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
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2017588

About Daniel G. MacArthur

Daniel G. MacArthur is a scholar working on Genetics, Molecular Biology, Cardiology and Cardiovascular Medicine, Orthopedics and Sports Medicine and Cancer Research, having authored 259 papers that have together received 62.7k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (80 papers), Genetic Associations and Epidemiology (51 papers), Muscle Physiology and Disorders (36 papers), Genomic variations and chromosomal abnormalities (31 papers), RNA modifications and cancer (23 papers), Genetics and Physical Performance (22 papers), RNA Research and Splicing (22 papers) and Sports Performance and Training (17 papers). The work is most often cited by research in Genetics (26.9k citations), Molecular Biology (28.7k citations), Cancer Research (5.6k citations), Aging (459 citations) and Genetics (1.9k citations). Daniel G. MacArthur has collaborated with scholars based in United States, United Kingdom and Australia. Frequent co-authors include Kathryn N. North, Konrad J. Karczewski, Nan Yang, Monkol Lek, Mark Daly, Simon Easteal, Kaitlin E. Samocha, Beryl B. Cummings, Chris Tyler‐Smith and Alan H. Beggs. Their work appears in journals such as Nature, Nature Communications, The American Journal of Human Genetics, Neuromuscular Disorders and Science.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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