Daniel G. MacArthur

96.6k citations

118 papers · 8.5k indexed · 5 hit papers · h-index 47

Impact in

Orthopedics and Sports Medicine top 0.5%
- Sports Performance and Training
Genetics top 0.1%
- Genetics and Physical Performance
- Genomics and Rare Diseases
- Genetic Associations and Epidemiology

Papers in

Genetics 71
- Genomics and Rare Diseases 34
- Genetics and Physical Performance 23
- Genetic Associations and Epidemiology 13
Orthopedics and Sports Medicine 20
- Sports Performance and Training 20

Co-authors: Kathryn N. North Nan Yang Konrad J. Karczewski Monkol Lek Simon Easteal Mark J. Daly Allan G. Hahn Alan H. Beggs
Journals: Neuromuscular Disorders (13 papers)European Journal of Human Genetics (7 papers)Nature Genetics (6 papers)The American Journal of Human Genetics (5 papers)Human Molecular Genetics (5 papers)
Partner nations: United States Australia United Kingdom

In The Last Decade

Daniel G. MacArthur

115 papers receiving 8.3k citations

Hit Papers

5 papers align trajectories log scale

A brief history of human disease genetics 2020 · 349 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2020 Nature
2017 Nature
2016 Nucleic Acids Research
2016 Genetics in Medicine
2003 The American Journal of Human Genetics

Peers

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

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

20 of 20 papers shown

#	Work
1	Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases Nature Genetics ·Nona Farbehi, Drew Neavin, Anna Cuomo, Lorenz Studer, Daniel G. MacArthur, Joseph E. Powell	2024	6
2	Sequencing and characterizing short tandem repeats in the human genome Nature Reviews Genetics ·Hope A. Tanudisastro, Ira W. Deveson, Harriet Dashnow, Daniel G. MacArthur	2024	44
3	Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes Genome biology ·Nechama Wieder, Elston N. D’Souza, Alexandra C Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia Chothani, Owen J. L. Rackham, Sebastian Schäfer, Julie L. Aspden, Daniel G. MacArthur, R. W. Davies, Nicola Whiffin	2024	12
4	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 ·Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria	2023	7
5	Discordant calls across genotype discovery approaches elucidate variants with systematic errors Genome Research ·Elizabeth G. Atkinson, Mykyta Artomov, Alexander A. Loboda, Heidi L. Rehm, Daniel G. MacArthur, Konrad J. Karczewski, Benjamin M. Neale, Mark J. Daly	2023	3
6	Mitochondrial DNA variation across 56,434 individuals in gnomAD Genome Research ·Kristen M. Laricchia, Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier, David Benjamin, Eric Banks, José Soto, Kiran Garimella, James Emery, Heidi L. Rehm, Daniel G. MacArthur, Grace Tiao, Monkol Lek, Vamsi K. Mootha, Sarah E. Calvo	2022	53
7	Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development European Journal of Human Genetics ·Julie A. Jurgens, Brenda J. Barry, Gabrielle Lemire, Wai‐Man Chan, Mary C. Whitman, Sherin Shaaban, Caroline D. Robson, Sarah MacKinnon, Eleina England, Hugh J. McMillan, Christopher E. Kelly, Brandon M. Pratt, Anne O’Donnell‐Luria, Daniel G. MacArthur, Kym M. Boycott, David G. Hunter, Elizabeth C. Engle	2021	12
8	The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort Clinical Genetics ·Owen M. Siggs, Mona S. Awadalla, Emmanuelle Souzeau, Sandra E. Staffieri, Lisa S. Kearns, Kate J. Laurie, Abraham Kuot, Ayub Qassim, Thomas L. Edwards, Michael Coote, Erica Mancel, Mark J Walland, Joanne Dondey, Anna Galanopoulous, Robert J. Casson, Richard Mills, Daniel G. MacArthur, Jonathan B. Ruddle, Kathryn P. Burdon, Jamie E. Craig	2020	19
9	Genetic regulatory variation in populations informs transcriptome analysis in rare disease Science ·Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, Jonah Einson, Christina Sousa, Paul Hoffman, Sandra Donkervoort, Zhuoxun Jiang, Payam Mohassel, A. Reghan Foley, Heather E. Wheeler, Hae Kyung Im, Carsten G. Bönnemann, Daniel G. MacArthur, Tuuli Lappalainen	2019	64
10	Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly The American Journal of Human Genetics ·Samantha J. Bryen, Himanshu Joshi, Frances J. Evesson, Cyrille Girard, Roula Ghaoui, Leigh B. Waddell, Alison C. Testa, Beryl B. Cummings, Susan Arbuckle, Nicole Graf, Richard Webster, Daniel G. MacArthur, Nigel G. Laing, Mark R. Davis, Reinhard Lührmann, Sandra T. Cooper	2019	20
11	Quantitative analysis of population-scale family trees with millions of relatives Science ·Joanna Kaplanis, Assaf Gordon, Tal Shor, Omer Weissbrod, Dan Geiger, Mary E. Wahl, Michael Gershovits, Barak Markus, Mona A. Sheikh, Melissa Gymrek, Gaurav Bhatia, Daniel G. MacArthur, Alkes L. Price, Yaniv Erlich	2018	131
12	Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration Genetics in Medicine ·Farzad Jamshidi, Emily Place, Sudeep Mehrotra, Daniel Navarro-Gomez, Mathew Maher, Kari Branham, Elise Valkanas, Timothy J. Cherry, Monkol Lek, Daniel G. MacArthur, Eric A. Pierce, Kinga M. Bujakowska	2018	17
13	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples Nature Genetics ·Jack A. Kosmicki, Kaitlin E. Samocha, Daniel P. Howrigan, Stephan Sanders, Kamil Slowikowski, Monkol Lek, Konrad J. Karczewski, David J. Cutler, Bernie Devlin, Kathryn Roeder, Joseph D. Buxbaum, Benjamin M. Neale, Daniel G. MacArthur, Dennis P. Wall, Elise Robinson, Mark J. Daly	2017	183
14	Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis Neuron ·Eric Vallabh Minikel, Daniel G. MacArthur	2016	14
15	High altitude adaptation in Daghestani populations from the Caucasus Human Genetics ·Luca Pagani, Qasim Ayub, Daniel G. MacArthur, Yali Xue, J. Kenneth Baillie, Yuan Chen, Iwanka Kozarewa, Daniel J. Turner, Sergio Tofanelli, Kazima Bulayeva, Kenneth K. Kídd, Giorgio Paoli, Chris Tyler‐Smith	2011	29
16	α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse Bone ·Nan Yang, Aaron Schindeler, Michelle M. McDonald, Jane T. Seto, Peter J. Houweling, Monkol Lek, Marshall W. Hogarth, Alyson Morse, Joanna M. Raftery, Dominic Balasuriya, Daniel G. MacArthur, Yemima Berman, Kate Quinlan, John A. Eisman, Tuan V. Nguyen, Richard L. Prince, Scott G. Wilson, Kathy Q. Zhu, David G. Little, Kathryn N. North	2011	39
17	Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling Human Molecular Genetics ·Jane T. Seto, Monkol Lek, Kate Quinlan, Peter J. Houweling, Xi Zheng, Fleur C. Garton, Daniel G. MacArthur, Joanna M. Raftery, Sean M. Garvey, Michael A. Hauser, Nan Yang, Stewart I. Head, Kathryn N. North	2011	84
18	ACTN3 Exercise and Sport Sciences Reviews ·Daniel G. MacArthur, Kathryn N. North	2007	116
19	A gene for speed: the ACTN3 R577X polymorphism influences muscle performance Neuromuscular Disorders ·Daniel G. MacArthur, Nan Yang, Jane T. Seto, Joanna M. Raftery, Anthony J. Kee, Edna C. Hardeman, Peter W. Gunning, Kathryn N. North	2006	1
20	Genes and Elite Athletes Daniel G. MacArthur, Kathryn N. North	2004	0

About Daniel G. MacArthur

Daniel G. MacArthur is a scholar working on Genetics, Orthopedics and Sports Medicine, Cardiology and Cardiovascular Medicine, Molecular Biology and Genetics, having authored 118 papers that have together received 8.5k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (34 papers), Muscle Physiology and Disorders (25 papers), Genetics and Physical Performance (23 papers), Sports Performance and Training (20 papers), Cardiovascular Effects of Exercise (14 papers), RNA Research and Splicing (13 papers), Genetic Associations and Epidemiology (13 papers) and Cardiomyopathy and Myosin Studies (12 papers). The work is most often cited by research in Orthopedics and Sports Medicine (1.5k citations), Genetics (4.7k citations), Cardiology and Cardiovascular Medicine (1.8k citations), Cell Biology (934 citations) and Molecular Biology (3.9k citations). Daniel G. MacArthur has collaborated with scholars based in United States, Australia and United Kingdom. Frequent co-authors include Kathryn N. North, Nan Yang, Konrad J. Karczewski, Monkol Lek, Simon Easteal, Mark J. Daly, Allan G. Hahn, Alan H. Beggs, Jason P. Gulbin and Kaitlin E. Samocha. Their work appears in journals such as Neuromuscular Disorders, European Journal of Human Genetics, Nature Genetics, The American Journal of Human Genetics and Human Molecular Genetics.

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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