Mark J. Daly

409.1k total citations · 27 hit papers
364 papers, 104.9k citations indexed

About

Mark J. Daly is a scholar working on Genetics, Molecular Biology and Immunology. According to data from OpenAlex, Mark J. Daly has authored 364 papers receiving a total of 104.9k indexed citations (citations by other indexed papers that have themselves been cited), including 219 papers in Genetics, 129 papers in Molecular Biology and 56 papers in Immunology. Recurrent topics in Mark J. Daly's work include Genetic Associations and Epidemiology (107 papers), Genomics and Rare Diseases (62 papers) and Genetic Mapping and Diversity in Plants and Animals (46 papers). Mark J. Daly is often cited by papers focused on Genetic Associations and Epidemiology (107 papers), Genomics and Rare Diseases (62 papers) and Genetic Mapping and Diversity in Plants and Animals (46 papers). Mark J. Daly collaborates with scholars based in United States, Finland and United Kingdom. Mark J. Daly's co-authors include David Altshuler, Benjamin M. Neale, Eric S. Lander, Stacey Gabriel, Paul I. W. de Bakker, Shaun Purcell, Julian Maller, Pak C. Sham, Pamela Sklar and Manuel A. R. Ferreira and has published in prestigious journals such as Nature, Science and Cell.

In The Last Decade

Mark J. Daly

348 papers receiving 103.1k citations

Hit Papers

PLINK: A Tool Set for Whole-Genome Associ... 1987 2026 2000 2013 2007 2010 2011 1987 2002 5.0k 10.0k 15.0k 20.0k
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.

  1. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
    2007 21.9k citations Shaun Purcell, Mark J. Daly et al. profile →
  2. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    2010 17.4k citations David Altshuler, Stacey Gabriel et al. profile →
  3. A framework for variation discovery and genotyping using next-generation DNA sequencing data
    2011 7.3k citations Stacey Gabriel, David Altshuler et al. Nature Genetics profile →
  4. MAPMAKER: An interactive computer package for constructing primary genetic linkage maps of experimental and natural populations
    1987 6.0k citations Eric S. Lander, Mark J. Daly et al. profile →
  5. The Structure of Haplotype Blocks in the Human Genome
    2002 4.5k citations Stacey Gabriel, S. F. Schaffner et al. Science profile →
  6. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
    2015 2.5k citations Mark J. Daly et al. Nature Genetics profile →
  7. Parametric and nonparametric linkage analysis: a unified multipoint approach.
    1996 2.3k citations Mark J. Daly, Eric S. Lander et al. profile →
  8. An atlas of genetic correlations across human diseases and traits
    2015 2.2k citations Mark J. Daly et al. Nature Genetics profile →
  9. Genome-wide association studies for common diseases and complex traits
    2005 1.9k citations Mark J. Daly et al. profile →
  10. A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
    2006 1.8k citations Mark J. Daly et al. profile →
  11. Schizophrenia risk from complex variation of complement component 4
    2016 1.5k citations Mark J. Daly et al. profile →
  12. Efficiency and power in genetic association studies
    2005 1.4k citations Stacey Gabriel, Mark J. Daly et al. Nature Genetics profile →
  13. Clinical use of current polygenic risk scores may exacerbate health disparities
    2019 1.3k citations Alicia R. Martin, Mark J. Daly et al. Nature Genetics profile →
  14. Efficient Control of Population Structure in Model Organism Association Mapping
    2008 1.3k citations Andrew Kirby, Mark J. Daly et al. Genetics profile →
  15. High-resolution haplotype structure in the human genome
    2001 1.2k citations Mark J. Daly, S. F. Schaffner et al. Nature Genetics profile →
  16. Genetic Mapping in Human Disease
    2008 911 citations David Altshuler, Mark J. Daly et al. Science profile →
  17. Genetic architectures of psychiatric disorders: the emerging picture and its implications
    2012 785 citations Mark J. Daly et al. profile →
  18. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
    2017 784 citations Alicia R. Martin, Mark J. Daly et al. profile →
  19. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
    2009 732 citations Mark J. Daly et al. Nature Genetics profile →
  20. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    1994 577 citations Mark J. Daly, Eric S. Lander et al. profile →
  21. Common deletion polymorphisms in the human genome
    2005 527 citations Jeffrey C. Barrett, Mark J. Daly et al. Nature Genetics profile →
  22. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    2008 507 citations Shaun Purcell, Mark J. Daly et al. Nature Genetics profile →
  23. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus
    2006 502 citations Robert Graham, Mark J. Daly et al. Nature Genetics profile →
  24. The ExAC browser: displaying reference data information from over 60 000 exomes
    2016 452 citations David Kavanagh, Mark J. Daly et al. profile →
  25. Testing for an Unusual Distribution of Rare Variants
    2011 432 citations Manuel A. Rivas, David Altshuler et al. PLoS Genetics profile →
  26. Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers
    2020 245 citations Jukka Koskela, Tuomo Kiiskinen et al. profile →
  27. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies
    2019 228 citations Alicia R. Martin, Mark J. Daly et al. profile →

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Mark J. Daly United States 103 52.0k 39.8k 14.5k 8.5k 8.1k 364 104.9k
Gonçalo R. Abecasis United States 85 36.0k 0.7× 41.4k 1.0× 13.2k 0.9× 6.4k 0.8× 7.5k 0.9× 198 88.1k
Richard Durbin United Kingdom 78 42.8k 0.8× 74.7k 1.9× 26.9k 1.9× 6.2k 0.7× 12.1k 1.5× 169 133.8k
David Altshuler United States 80 30.5k 0.6× 29.7k 0.7× 7.1k 0.5× 4.3k 0.5× 7.1k 0.9× 150 63.8k
Heng Li China 59 35.9k 0.7× 68.3k 1.7× 27.2k 1.9× 6.1k 0.7× 12.0k 1.5× 289 122.6k
Peer Bork Germany 151 15.3k 0.3× 97.1k 2.4× 18.8k 1.3× 10.0k 1.2× 9.5k 1.2× 524 145.9k
Wolfgang Huber Germany 72 12.6k 0.2× 67.0k 1.7× 17.8k 1.2× 12.8k 1.5× 14.6k 1.8× 249 109.8k
Rudolf Jaenisch United States 179 33.2k 0.6× 107.3k 2.7× 5.3k 0.4× 10.4k 1.2× 14.1k 1.7× 590 136.9k
Prescott L. Deininger United States 67 20.0k 0.4× 62.5k 1.6× 22.6k 1.6× 6.6k 0.8× 3.3k 0.4× 197 98.6k
Pierre Chambon France 183 45.3k 0.9× 80.6k 2.0× 3.3k 0.2× 15.8k 1.9× 7.7k 1.0× 702 117.0k
Simon Anders Germany 31 9.6k 0.2× 51.5k 1.3× 15.8k 1.1× 10.7k 1.3× 11.8k 1.5× 59 87.9k

Countries citing papers authored by Mark J. Daly

Since Specialization
Citations

This map shows the geographic impact of Mark J. Daly'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 Mark J. Daly with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mark J. Daly more than expected).

Fields of papers citing papers by Mark J. Daly

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mark J. Daly. 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 Mark J. Daly. The network helps show where Mark J. Daly may publish in the future.

Co-authorship network of co-authors of Mark J. Daly

This figure shows the co-authorship network connecting the top 25 collaborators of Mark J. Daly. A scholar is included among the top collaborators of Mark J. Daly 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 Mark J. Daly. Mark J. Daly is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Skotte, Line, Juha Karjalainen, Erik Abner, et al.. (2022). Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci. Nature Communications. 13(1). 3200–3200. 12 indexed citations
2.
Huebner, Cynthia D., et al.. (2021). Chromosome Level Genome Assembly and Annotation of Highly Invasive Japanese Stiltgrass ( Microstegium vimineum ). Genome Biology and Evolution. 13(11). 5 indexed citations
3.
Tanigawa, Yosuke, Michael Wainberg, Juha Karjalainen, et al.. (2020). Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genetics. 16(5). e1008682–e1008682. 26 indexed citations
4.
Nudel, Ron, Michael E. Benros, Morten Dybdahl Krebs, et al.. (2019). Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders. European Journal of Human Genetics. 27(9). 1445–1455. 36 indexed citations
5.
Nudel, Ron, Yunpeng Wang, Vivek Appadurai, et al.. (2019). A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population. Translational Psychiatry. 9(1). 283–283. 47 indexed citations
6.
Kerminen, Sini, Alicia R. Martin, Jukka Koskela, et al.. (2019). Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland. STM:n Hallinnonalan avoin julkaisuarkisto (Julkari). 1 indexed citations
7.
Weghorn, Donate, Daniel J. Balick, Christopher A. Cassa, et al.. (2019). Applicability of the Mutation–Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Molecular Biology and Evolution. 36(8). 1701–1710. 15 indexed citations
8.
Collij, Valerie, Floris Imhann, Arnau Vich Vila, et al.. (2019). SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects. PLoS ONE. 14(1). e0211328–e0211328. 11 indexed citations
9.
Niestroj, Lisa‐Marie, Michael Nothnagel, Patrick May, et al.. (2018). Guideline‐based and bioinformatic reassessment of lesion‐associated gene and variant pathogenicity in focal human epilepsies. Epilepsia. 59(11). 2145–2152. 6 indexed citations
10.
Kavanagh, David, Elizabeth C. Schramm, Michael Triebwasser, et al.. (2015). Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels. Human Molecular Genetics. 24(13). 3861–70. 96 indexed citations
11.
Haas, Joel T., Harland S. Winter, Elaine T. Lim, et al.. (2012). DGAT1 mutation is linked to a congenital diarrheal disorder. Journal of Clinical Investigation. 122(12). 4680–4684. 115 indexed citations
12.
Seddon, Johanna M., Robyn Reynolds, Yi Yu, Mark J. Daly, & Bernard Rosner. (2011). Prediction Risk Modeling for Progression to Advanced Age-Related Macular Degeneration Using Baseline Demographic, Environmental, Genetic and Ocular Variables. Investigative Ophthalmology & Visual Science. 52(14). 5235–5235. 2 indexed citations
13.
Surakka, Ida, Kati Kristiansson, Michael Inouye, et al.. (2010). Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging. STM:n Hallinnonalan avoin julkaisuarkisto (Julkari). 14 indexed citations
14.
Shao, Haifeng, Lindsay C. Burrage, David S. Sinasac, et al.. (2008). Genetic architecture of complex traits: Large phenotypic effects and pervasive epistasis. Proceedings of the National Academy of Sciences. 105(50). 19910–19914. 198 indexed citations
15.
Kim, Kitai, Paul H. Lerou, Akiko Yabuuchi, et al.. (2006). Histocompatible Embryonic Stem Cells by Parthenogenesis. Science. 315(5811). 482–486. 152 indexed citations
16.
Daly, Mark J.. (2006). Tamoxifen in Ductal Carcinoma In Situ. Seminars in Oncology. 33(6). 647–649. 16 indexed citations
17.
Petryshen, Tracey L., Andrew Kirby, Ronald P. Hammer, et al.. (2005). Two Quantitative Trait Loci for Prepulse Inhibition of Startle Identified on Mouse Chromosome 16 Using Chromosome Substitution Strains. Genetics. 171(4). 1895–1904. 30 indexed citations
18.
Reich, David, S. F. Schaffner, Mark J. Daly, et al.. (2002). Human genome sequence variation and the influence of gene history, mutation and recombination. Nature Genetics. 32(1). 135–142. 226 indexed citations
19.
Puca, Annibale Alessandro, Mark J. Daly, Stephanie Brewster, et al.. (2001). A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proceedings of the National Academy of Sciences. 98(18). 10505–10508. 237 indexed citations
20.
Miklas, Phillip N., Richard Delorme, Valerie Stone, et al.. (2000). Bacterial, Fungal, and Viral Disease Resistance Loci Mapped in a Recombinant Inbred Common Bean Population (`Dorado'/XAN 176). Journal of the American Society for Horticultural Science. 125(4). 476–481. 90 indexed citations

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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