Daniel G. MacArthur

96.6k total citations · 5 hit papers
118 papers, 8.5k citations indexed

About

Daniel G. MacArthur is a scholar working on Genetics, Molecular Biology and Cardiology and Cardiovascular Medicine. According to data from OpenAlex, Daniel G. MacArthur has authored 118 papers receiving a total of 8.5k indexed citations (citations by other indexed papers that have themselves been cited), including 71 papers in Genetics, 68 papers in Molecular Biology and 25 papers in Cardiology and Cardiovascular Medicine. Recurrent topics in Daniel G. MacArthur's work include Genomics and Rare Diseases (34 papers), Muscle Physiology and Disorders (25 papers) and Genetics and Physical Performance (23 papers). Daniel G. MacArthur is often cited by papers focused on Genomics and Rare Diseases (34 papers), Muscle Physiology and Disorders (25 papers) and Genetics and Physical Performance (23 papers). Daniel G. MacArthur collaborates with scholars based in United States, Australia and United Kingdom. Daniel G. MacArthur's co-authors include Kathryn N. North, Nan Yang, Konrad J. Karczewski, Simon Easteal, Monkol Lek, Mark J. Daly, Alan H. Beggs, Jason P. Gulbin, Allan G. Hahn and Chris Tyler‐Smith and has published in prestigious journals such as Nature, Science and Proceedings of the National Academy of Sciences.

In The Last Decade

Daniel G. MacArthur

115 papers receiving 8.3k citations

Hit Papers

5 papers align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Landscape of X chromosome inactivation across human tissues

2017 665 citations Laura D. Gauthier, Beryl B. Cummings et al. profile →
ACTN3 Genotype Is Associated with Human Elite Athletic Performance

2003 640 citations Nan Yang, Daniel G. MacArthur et al. The American Journal of Human Genetics profile →
The ExAC browser: displaying reference data information from over 60 000 exomes

2016 452 citations Konrad J. Karczewski, Kaitlin E. Samocha et al. profile →
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

2016 451 citations Eric Vallabh Minikel, Daniel G. MacArthur et al. profile →
A brief history of human disease genetics

2020 349 citations Daniel G. MacArthur, Kathryn N. North et al. profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Daniel G. MacArthur United States	47	4.7k	3.9k	1.8k	1.5k	934	118	8.5k
R E Ferrell United States	51	3.2k 0.7×	2.8k 0.7×	547 0.3×	651 0.4×	388 0.4×	193	8.8k
Daníel F. Guðbjartsson Iceland	41	3.9k 0.8×	3.2k 0.8×	465 0.3×	401 0.3×	195 0.2×	81	8.1k
Holly K. Tabor United States	30	2.8k 0.6×	2.4k 0.6×	242 0.1×	525 0.4×	146 0.2×	62	6.0k
Jeffrey R. Gulcher Iceland	47	2.7k 0.6×	2.9k 0.7×	253 0.1×	252 0.2×	376 0.4×	81	7.5k
Marcel M. A. M. Mannens Netherlands	46	1.4k 0.3×	4.8k 1.2×	3.5k 1.9×	181 0.1×	329 0.4×	129	7.5k
Michael A. Simpson United Kingdom	44	1.2k 0.2×	2.7k 0.7×	486 0.3×	135 0.1×	677 0.7×	161	6.3k
Leena Peltonen Finland	51	2.9k 0.6×	3.3k 0.9×	693 0.4×	95 0.1×	870 0.9×	146	9.6k
Victor A. McKusick United States	58	5.6k 1.2×	4.3k 1.1×	2.1k 1.1×	130 0.1×	1.1k 1.2×	248	14.2k
Peter Nürnberg Germany	71	4.9k 1.0×	9.0k 2.3×	1.0k 0.5×	76 0.1×	2.0k 2.2×	407	17.7k
William J. Kimberling United States	54	3.5k 0.8×	6.3k 1.6×	349 0.2×	107 0.1×	730 0.8×	186	11.6k

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-authorship network of co-authors of Daniel G. MacArthur

This figure shows the co-authorship network connecting the top 25 collaborators of Daniel G. MacArthur. A scholar is included among the top collaborators of Daniel G. MacArthur based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Daniel G. MacArthur. Daniel G. MacArthur is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Farbehi, Nona, Drew Neavin, Anna Cuomo, et al.. (2024). Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases. Nature Genetics. 56(5). 758–766. 6 indexed citations

Deveson, Ira W., et al.. (2024). Sequencing and characterizing short tandem repeats in the human genome. Nature Reviews Genetics. 25(7). 460–475. 44 indexed citations

Singer‐Berk, Moriel, Sanna Gudmundsson, Samantha Baxter, et al.. (2023). Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. The American Journal of Human Genetics. 110(9). 1496–1508. 7 indexed citations

Atkinson, Elizabeth G., Mykyta Artomov, Alexander A. Loboda, et al.. (2023). Discordant calls across genotype discovery approaches elucidate variants with systematic errors. Genome Research. 33(6). 999–1005. 3 indexed citations

Cuomo, Anna, Aparna Nathan, Soumya Raychaudhuri, Daniel G. MacArthur, & Joseph E. Powell. (2023). Single-cell genomics meets human genetics. Nature Reviews Genetics. 24(8). 535–549. 48 indexed citations

Laricchia, Kristen M., Nicole J. Lake, Nicholas A. Watts, et al.. (2022). Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Research. 32(3). 569–582. 53 indexed citations

Jurgens, Julie A., Brenda J. Barry, Gabrielle Lemire, et al.. (2021). Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European Journal of Human Genetics. 29(5). 816–826. 12 indexed citations

Siggs, Owen M., Mona S. Awadalla, Emmanuelle Souzeau, et al.. (2020). The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Clinical Genetics. 97(5). 764–769. 19 indexed citations

Mohammadi, Pejman, Stephane E. Castel, Beryl B. Cummings, et al.. (2019). Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science. 366(6463). 351–356. 64 indexed citations

10.

Kaplanis, Joanna, Assaf Gordon, Tal Shor, et al.. (2018). Quantitative analysis of population-scale family trees with millions of relatives. Science. 360(6385). 171–175. 131 indexed citations

11.

Zhang, Sidi, Kaitlin E. Samocha, Manuel A. Rivas, et al.. (2018). Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides. Genome Research. 28(7). 968–974. 29 indexed citations

12.

Minikel, Eric Vallabh & Daniel G. MacArthur. (2016). Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis. Neuron. 92(2). 336–338. 14 indexed citations

13.

MacArthur, Daniel G. & Monkol Lek. (2012). The uncertain road towards genomic medicine. Trends in Genetics. 28(7). 303–305. 8 indexed citations

14.

MacArthur, Daniel G.. (2012). Challenges in clinical genomics. Genome Medicine. 4(5). 43–43. 4 indexed citations

15.

Seto, Jane T., Monkol Lek, Kate Quinlan, et al.. (2011). Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics. 20(15). 2914–2927. 84 indexed citations

16.

Balasubramanian, Suganthi, Lukas Habegger, Adam Frankish, et al.. (2011). Gene inactivation and its implications for annotation in the era of personal genomics. Genes & Development. 25(1). 1–10. 22 indexed citations

17.

Albers, Cornelis A., Gerton Lunter, Daniel G. MacArthur, et al.. (2010). Dindel: Accurate indel calls from short-read data. Genome Research. 21(6). 961–973. 280 indexed citations

18.

MacArthur, Daniel G., Nan Yang, Jane T. Seto, et al.. (2006). A gene for speed: the ACTN3 R577X polymorphism influences muscle performance. Neuromuscular Disorders. 16. 1 indexed citations

19.

Moran, Colin N., Nan Yang, Mark E.S. Bailey, et al.. (2006). Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics. 15(1). 88–93. 156 indexed citations

20.

MacArthur, Daniel G. & Kathryn N. North. (2004). Genes and Elite Athletes. 71(7). 9.

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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