David Altshuler

211.9k total citations · 25 hit papers
150 papers, 63.8k citations indexed

About

David Altshuler is a scholar working on Genetics, Molecular Biology and Endocrinology, Diabetes and Metabolism. According to data from OpenAlex, David Altshuler has authored 150 papers receiving a total of 63.8k indexed citations (citations by other indexed papers that have themselves been cited), including 92 papers in Genetics, 77 papers in Molecular Biology and 22 papers in Endocrinology, Diabetes and Metabolism. Recurrent topics in David Altshuler's work include Genetic Associations and Epidemiology (67 papers), Genomics and Rare Diseases (22 papers) and Genomic variations and chromosomal abnormalities (19 papers). David Altshuler is often cited by papers focused on Genetic Associations and Epidemiology (67 papers), Genomics and Rare Diseases (22 papers) and Genomic variations and chromosomal abnormalities (19 papers). David Altshuler collaborates with scholars based in United States, Sweden and Canada. David Altshuler's co-authors include Mark J. Daly, Stacey Gabriel, Eric Banks, Kiran Garimella, Mark A. DePristo, Aaron McKenna, Andrew Kernytsky, Andrey Sivachenko, Kristian Cibulskis and Matthew G. Hanna and has published in prestigious journals such as Nature, Science and New England Journal of Medicine.

In The Last Decade

David Altshuler

147 papers receiving 62.8k citations

Hit Papers

The Genome Analysis Toolkit: A MapReduce framework ... 1999 2026 2008 2017 2010 2011 2002 2013 2002 5.0k 10.0k 15.0k
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. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
    2010 17.4k citations Aaron McKenna, Matthew G. Hanna et al. Genome Research profile →
  2. A framework for variation discovery and genotyping using next-generation DNA sequencing data
    2011 7.3k citations Mark A. DePristo, Eric Banks et al. Nature Genetics profile →
  3. The Structure of Haplotype Blocks in the Human Genome
    2002 4.5k citations Stacey Gabriel, S. F. Schaffner et al. Science profile →
  4. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline
    2013 4.3k citations Eric Banks, Kiran Garimella et al. profile →
  5. Detecting recent positive selection in the human genome from haplotype structure
    2002 1.4k citations Pardis C. Sabeti, David Reich et al. profile →
  6. Efficiency and power in genetic association studies
    2005 1.4k citations Roman Yelensky, Itsik Pe’er et al. Nature Genetics profile →
  7. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    2000 1.3k citations David Altshuler, Joel N. Hirschhorn et al. Nature Genetics profile →
  8. Characterization of single-nucleotide polymorphisms in coding regions of human genes
    1999 1.3k citations David Altshuler, Kristin Ardlie et al. Nature Genetics profile →
  9. Association between Microdeletion and Microduplication at 16p11.2 and Autism
    2008 1.1k citations David Altshuler et al. New England Journal of Medicine profile →
  10. Genetic Mapping in Human Disease
    2008 911 citations David Altshuler, Mark J. Daly et al. Science profile →
  11. Positive Natural Selection in the Human Lineage
    2006 802 citations Pardis C. Sabeti, S. F. Schaffner et al. Science profile →
  12. The Lin28/let-7 Axis Regulates Glucose Metabolism
    2011 724 citations Ayellet V. Segrè, David Altshuler et al. profile →
  13. Clinical Risk Factors, DNA Variants, and the Development of Type 2 Diabetes
    2008 649 citations Peter Almgren, Göran Berglund et al. New England Journal of Medicine profile →
  14. TCF7L2 Polymorphisms and Progression to Diabetes in the Diabetes Prevention Program
    2006 627 citations José C. Florez, Kathleen A. Jablonski et al. New England Journal of Medicine profile →
  15. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    2012 620 citations Hyun Min Kang, Stacey Gabriel et al. profile →
  16. Copy number variation: New insights in genome diversity
    2006 592 citations Steven A. McCarroll, David Altshuler et al. Genome Research profile →
  17. Errα and Gabpa/b specify PGC-1α-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle
    2004 572 citations Vamsi K. Mootha, Christoph Handschin et al. Proceedings of the National Academy of Sciences profile →
  18. An SNP map of the human genome generated by reduced representation shotgun sequencing
    2000 547 citations David Altshuler, Eric S. Lander et al. profile →
  19. Assessing the impact of population stratification on genetic association studies
    2004 546 citations David Reich, Gavin J. McDonald et al. Nature Genetics profile →
  20. Common deletion polymorphisms in the human genome
    2005 527 citations Steven A. McCarroll, Pardis C. Sabeti et al. Nature Genetics profile →
  21. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    2008 507 citations Steven A. McCarroll, Shaun Purcell et al. Nature Genetics profile →
  22. 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 →
  23. Testing for an Unusual Distribution of Rare Variants
    2011 432 citations Manuel A. Rivas, David Altshuler et al. PLoS Genetics profile →
  24. Validating therapeutic targets through human genetics
    2013 410 citations Robert M. Plenge, David Altshuler et al. profile →
  25. Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants
    2023 98 citations David J. Friedman, Martin R. Pollak et al. New England Journal of Medicine profile →

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
David Altshuler United States 80 30.5k 29.7k 7.1k 7.1k 4.5k 150 63.8k
Gonçalo R. Abecasis United States 85 36.0k 1.2× 41.4k 1.4× 7.5k 1.1× 13.2k 1.9× 2.9k 0.6× 198 88.1k
Andrew P. Feinberg United States 92 15.5k 0.5× 45.0k 1.5× 6.8k 1.0× 5.0k 0.7× 2.7k 0.6× 235 62.2k
Mark J. Daly United States 103 52.0k 1.7× 39.8k 1.3× 8.1k 1.1× 14.5k 2.0× 5.8k 1.3× 364 104.9k
Pak C. Sham Hong Kong 97 24.3k 0.8× 16.4k 0.6× 3.1k 0.4× 3.2k 0.5× 3.1k 0.7× 695 62.0k
Stacey Gabriel United States 54 20.1k 0.7× 27.2k 0.9× 10.5k 1.5× 6.2k 0.9× 3.0k 0.7× 100 57.8k
Steve Horvath United States 106 11.1k 0.4× 44.2k 1.5× 8.3k 1.2× 5.1k 0.7× 2.4k 0.5× 447 70.9k
M Snyder United States 141 11.0k 0.4× 58.7k 2.0× 9.0k 1.3× 9.5k 1.3× 2.1k 0.5× 913 82.4k
Francis S. Collins United States 114 13.2k 0.4× 30.8k 1.0× 4.6k 0.6× 2.3k 0.3× 3.4k 0.8× 423 60.9k
Jun Wang China 107 9.5k 0.3× 34.0k 1.1× 7.9k 1.1× 11.7k 1.6× 3.1k 0.7× 1.9k 66.2k
Stylianos E. Antonarakis Switzerland 102 13.3k 0.4× 21.9k 0.7× 3.4k 0.5× 2.7k 0.4× 2.2k 0.5× 602 40.8k

Countries citing papers authored by David Altshuler

Since Specialization
Citations

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

Fields of papers citing papers by David Altshuler

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by David Altshuler. 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 David Altshuler. The network helps show where David Altshuler may publish in the future.

Co-authorship network of co-authors of David Altshuler

This figure shows the co-authorship network connecting the top 25 collaborators of David Altshuler. A scholar is included among the top collaborators of David Altshuler 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 David Altshuler. David Altshuler 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.
Castellani, Carlo, Fredrick Van Goor, Benedetta Fabrizzi, et al.. (2026). Elexacaftor/tezacaftor/ivacaftor for cystic fibrosis and rare CFTR variants: in vitro translation to a phase 3, double-blind, randomized, placebo-controlled trial, and real-world study. American Journal of Respiratory and Critical Care Medicine. 212(2). 327–337.
2.
Altshuler, David, et al.. (2022). Anterior petrosal (Kawase) approach to petroclival meningioma: 2-dimensional operative video. Neurosurgical Focus Video. 6(2). V13–V13. 1 indexed citations
3.
Artomov, Mykyta, Joseph Vijai, Grace Tiao, et al.. (2019). Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes. European Journal of Human Genetics. 27(5). 824–828. 4 indexed citations
4.
Billings, Liana K., Kathleen A. Jablonski, Jarred B. McAteer, et al.. (2017). Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention. The Journal of Clinical Endocrinology & Metabolism. 102(8). 2678–2689. 13 indexed citations
5.
Ito, Kaoru, Alexander G. Bick, Jason Flannick, et al.. (2013). Increased Burden of Cardiovascular Disease in Carriers of APOL1 Genetic Variants. Circulation Research. 114(5). 845–850. 110 indexed citations
6.
Lucas, Gavin, Carla Lluís-Ganella, Isaac Subirana, et al.. (2012). Hypothesis-Based Analysis of Gene-Gene Interactions and Risk of Myocardial Infarction. PLoS ONE. 7(8). e41730–e41730. 14 indexed citations
7.
Cheng, Ching‐Yu, David Reich, Christopher A. Haiman, et al.. (2012). Correction: African Ancestry and Its Correlation to Type 2 Diabetes in African Americans: A Genetic Admixture Analysis in Three U.S. Population Cohorts. PLoS ONE. 7(9). 2 indexed citations
8.
Hivert, Marie‐France, Kathleen A. Jablonski, Leigh Perreault, et al.. (2011). Updated Genetic Score Based on 34 Confirmed Type 2 Diabetes Loci Is Associated With Diabetes Incidence and Regression to Normoglycemia in the Diabetes Prevention Program. Diabetes. 60(4). 1340–1348. 129 indexed citations
9.
Segrè, Ayellet V., et al.. (2010). Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits. PLoS Genetics. 6(8). e1001058–e1001058. 253 indexed citations
10.
Kenny, Eimear E., Alexander Gusev, Jennifer K. Lowe, et al.. (2010). Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population. Human Molecular Genetics. 20(4). 827–839. 19 indexed citations
11.
McKenna, Aaron, Matthew G. Hanna, Eric Banks, et al.. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research. 20(9). 1297–1303. 17384 indexed citations breakdown →
12.
Kathiresan, Sekar, Olle Melander, Dragi Anevski, et al.. (2008). Polymorphisms Associated with Cholesterol and Risk of Cardiovascular Events. New England Journal of Medicine. 358(12). 1240–1249. 494 indexed citations
13.
Choy, Edwin, Roman Yelensky, Robert M. Plenge, et al.. (2008). Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines. PLoS Genetics. 4(11). e1000287–e1000287. 164 indexed citations
14.
Winckler, Wendy, Michael N. Weedon, Robert Graham, et al.. (2007). Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes. Diabetes. 56(3). 685–693. 130 indexed citations
15.
Lyon, Helen N., José C. Florez, Richa Saxena, et al.. (2006). Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity. Diabetes. 55(11). 3180–3184. 65 indexed citations
16.
Winckler, Wendy, Simon Myers, Daniel J. Richter, et al.. (2005). Comparison of Fine-Scale Recombination Rates in Humans and Chimpanzees. Science. 308(5718). 107–111. 280 indexed citations
17.
Altshuler, David. (2005). MEF2A sequence variants and coronary artery disease: a change of heart?. Journal of Clinical Investigation. 115(4). 831–833. 5 indexed citations
18.
Sabeti, Pardis C., Emily C. Walsh, S. F. Schaffner, et al.. (2005). The Case for Selection at CCR5-Δ32. PLoS ONE. 3. 1963–1969. 11 indexed citations
19.
Mootha, Vamsi K., Christoph Handschin, Xiaohui Xie, et al.. (2004). Errα and Gabpa/b specify PGC-1α-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proceedings of the National Academy of Sciences. 101(17). 6570–6575. 572 indexed citations breakdown →
20.
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

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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