Evan E. Eichler

208.3k total citations · 20 hit papers
363 papers, 41.8k citations indexed

About

Evan E. Eichler is a scholar working on Genetics, Molecular Biology and Plant Science. According to data from OpenAlex, Evan E. Eichler has authored 363 papers receiving a total of 41.8k indexed citations (citations by other indexed papers that have themselves been cited), including 274 papers in Genetics, 240 papers in Molecular Biology and 164 papers in Plant Science. Recurrent topics in Evan E. Eichler's work include Genomic variations and chromosomal abnormalities (196 papers), Chromosomal and Genetic Variations (164 papers) and Genomics and Phylogenetic Studies (98 papers). Evan E. Eichler is often cited by papers focused on Genomic variations and chromosomal abnormalities (196 papers), Chromosomal and Genetic Variations (164 papers) and Genomics and Phylogenetic Studies (98 papers). Evan E. Eichler collaborates with scholars based in United States, Italy and Germany. Evan E. Eichler's co-authors include Can Alkan, Jeffrey A. Bailey, Bradley P. Coe, Santhosh Girirajan, Deborah A. Nickerson, John Huddleston, Ze Cheng, Jay Shendure, Carl Baker and Maika Malig and has published in prestigious journals such as Nature, Science and New England Journal of Medicine.

In The Last Decade

Evan E. Eichler

354 papers receiving 41.0k citations

Hit Papers

Nonhybrid, finished micro... 2002 2026 2010 2018 2013 2009 2010 2011 2002 1000 2.0k 3.0k
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. Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
    2013 3.1k citations Chen-Shan Chin, John Huddleston et al. profile →
  2. Targeted capture and massively parallel sequencing of 12 human exomes
    2009 1.3k citations Evan E. Eichler, Jay Shendure et al. profile →
  3. Missing heritability and strategies for finding the underlying causes of complex disease
    2010 1.1k citations Evan E. Eichler et al. profile →
  4. Genome structural variation discovery and genotyping
    2011 1.0k citations Evan E. Eichler et al. profile →
  5. Recent Segmental Duplications in the Human Genome
    2002 958 citations Evan E. Eichler et al. Science profile →
  6. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    2011 806 citations Laura Vives, Carl Baker et al. profile →
  7. Fine-scale structural variation of the human genome
    2005 742 citations Evan E. Eichler et al. profile →
  8. Segmental Duplications and Copy-Number Variation in the Human Genome
    2005 678 citations Evan E. Eichler et al. The American Journal of Human Genetics profile →
  9. Long-read human genome sequencing and its applications
    2020 589 citations Glennis A. Logsdon, Mitchell R. Vollger et al. profile →
  10. Limitations of next-generation genome sequence assembly
    2010 508 citations Evan E. Eichler et al. profile →
  11. Personalized copy number and segmental duplication maps using next-generation sequencing
    2009 505 citations Jeffrey M. Kidd, Tomàs Marquès‐Bonet et al. profile →
  12. Resolving the complexity of the human genome using single-molecule sequencing
    2014 499 citations Mark Chaisson, John Huddleston et al. profile →
  13. HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
    2020 384 citations Sergey Nurk, Brian P. Walenz et al. Genome Research profile →
  14. A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
    2014 375 citations Evan E. Eichler et al. The American Journal of Human Genetics profile →
  15. Excess of rare, inherited truncating mutations in autism
    2015 345 citations Carl Baker, Laura Vives et al. profile →
  16. Characterizing the Major Structural Variant Alleles of the Human Genome
    2019 269 citations Peter A. Audano, Arvis Sulovari et al. profile →
  17. Telomere-to-telomere assembly of diploid chromosomes with Verkko
    2023 177 citations Mikko Rautiainen, Sergey Nurk et al. Nature Biotechnology profile →
  18. Segmental duplications and their variation in a complete human genome
    2022 152 citations Mitchell R. Vollger, Xavi Guitart et al. Science profile →
  19. Epigenetic patterns in a complete human genome
    2022 146 citations Ariel Gershman, Xavi Guitart et al. Science profile →
  20. The variation and evolution of complete human centromeres
    2024 67 citations Glennis A. Logsdon, Allison N. Rozanski et al. profile →

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author Last Decade Papers Cites
Evan E. Eichler 25.9k 24.1k 12.7k 3.4k 2.9k 363 41.8k
Peter M. Visscher 12.5k 0.5× 30.7k 1.3× 4.9k 0.4× 1.8k 0.5× 2.7k 0.9× 453 47.3k
Adrian Bird 51.3k 2.0× 21.6k 0.9× 4.6k 0.4× 4.6k 1.4× 4.2k 1.4× 232 61.8k
Shaun Purcell 11.7k 0.5× 22.3k 0.9× 3.3k 0.3× 2.1k 0.6× 2.7k 0.9× 136 39.1k
Stephen W. Scherer 22.5k 0.9× 18.5k 0.8× 4.0k 0.3× 4.0k 1.2× 3.1k 1.1× 534 40.0k
David Altshuler 29.7k 1.1× 30.5k 1.3× 7.1k 0.6× 1.1k 0.3× 7.1k 2.5× 150 63.8k
James R. Lupski 21.2k 0.8× 17.9k 0.7× 6.5k 0.5× 924 0.3× 2.1k 0.7× 579 38.9k
Jay Shendure 36.0k 1.4× 17.1k 0.7× 4.4k 0.3× 1.2k 0.3× 8.2k 2.8× 297 52.4k
Benjamin M. Neale 12.4k 0.5× 24.7k 1.0× 2.7k 0.2× 2.0k 0.6× 2.7k 0.9× 165 42.0k
Paolo Sassone‐Corsi 23.4k 0.9× 9.1k 0.4× 4.9k 0.4× 1.8k 0.5× 2.4k 0.8× 433 48.2k
R Myers 32.6k 1.3× 12.7k 0.5× 4.8k 0.4× 830 0.2× 4.3k 1.5× 299 50.2k

Countries citing papers authored by Evan E. Eichler

Since Specialization
Citations

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

Fields of papers citing papers by Evan E. Eichler

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Evan E. Eichler. 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 Evan E. Eichler. The network helps show where Evan E. Eichler may publish in the future.

Co-authorship network of co-authors of Evan E. Eichler

This figure shows the co-authorship network connecting the top 25 collaborators of Evan E. Eichler. A scholar is included among the top collaborators of Evan E. Eichler 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 Evan E. Eichler. Evan E. Eichler 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.
Porubský, David, Xavi Guitart, DongAhn Yoo, et al.. (2025). SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies. Bioinformatics. 41(6). 7 indexed citations
2.
Harvey, William T., et al.. (2024). AGAPduplicons associate with structural diversity at Chromosome 10q11.22. Genome Research. 34(10). 1487–1499.
3.
Goldberg, Michael E., et al.. (2024). Effects of parental age and polymer composition on short tandem repeat de novo mutation rates. Genetics. 226(4). 3 indexed citations
4.
Hudac, Caitlin M., Trent D. DesChamps, Rachel K. Earl, et al.. (2024). Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants. Autism Research. 18(5). 909–921. 1 indexed citations
5.
Mastrorosa, Francesco, Danny E. Miller, & Evan E. Eichler. (2023). Applications of long-read sequencing to Mendelian genetics. Genome Medicine. 15(1). 42–42. 50 indexed citations
6.
Yang, Xiangyu, Yawen Zou, Shilong Zhang, et al.. (2023). Characterization of large-scale genomic differences in the first complete human genome. Genome biology. 24(1). 157–157. 10 indexed citations
7.
Miga, Karen H. & Evan E. Eichler. (2023). Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes. The American Journal of Human Genetics. 110(11). 1832–1840. 12 indexed citations
8.
Kurtz‐Nelson, Evangeline C., Caitlin M. Hudac, Tianyun Wang, et al.. (2023). Characterizing the autism spectrum phenotype in DYRK1A‐related syndrome. Autism Research. 16(8). 1488–1500. 7 indexed citations
9.
Porubský, David, Mitchell R. Vollger, William T. Harvey, et al.. (2023). Gaps and complex structurally variant loci in phased genome assemblies. Genome Research. 33(4). 496–510. 23 indexed citations
10.
Morgan, Marc A., Marta Iwanaszko, Yuki Aoi, et al.. (2023). ELOA3 : A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster. Science Advances. 9(47). eadj1261–eadj1261. 1 indexed citations
11.
Rautiainen, Mikko, Sergey Nurk, Brian P. Walenz, et al.. (2023). Telomere-to-telomere assembly of diploid chromosomes with Verkko. Nature Biotechnology. 41(10). 1474–1482. 177 indexed citations breakdown →
12.
Dishuck, Philip C., Allison N. Rozanski, Glennis A. Logsdon, David Porubský, & Evan E. Eichler. (2022). GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads. Bioinformatics. 39(1). 4 indexed citations
13.
Vollger, Mitchell R., Peter Kerpedjiev, Adam M. Phillippy, & Evan E. Eichler. (2022). StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps. Bioinformatics. 38(7). 2049–2051. 67 indexed citations
14.
Vollger, Mitchell R., Xavi Guitart, Philip C. Dishuck, et al.. (2022). Segmental duplications and their variation in a complete human genome. Science. 376(6588). eabj6965–eabj6965. 152 indexed citations breakdown →
15.
Vollger, Mitchell R., Glennis A. Logsdon, Peter A. Audano, et al.. (2019). Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads. Annals of Human Genetics. 84(2). 125–140. 81 indexed citations
16.
Wu, Huidan, Honghui Li, Ting Bai, et al.. (2019). Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort. Clinical Genetics. 97(2). 338–346. 27 indexed citations
17.
Gordon, David, John Huddleston, Mark Chaisson, et al.. (2016). Long-read sequence assembly of the gorilla genome. Science. 352(6281). aae0344–aae0344. 218 indexed citations
18.
Lorente-Galdós, Belén, Gabriel Santpere, Laura Vives, et al.. (2013). Accelerated exon evolution within primate segmental duplications. Genome biology. 14(1). R9–R9. 12 indexed citations
19.
Smith, Jeramiah J., Francesca Antonacci, Evan E. Eichler, & Chris T. Amemiya. (2009). Programmed loss of millions of base pairs from a vertebrate genome. Proceedings of the National Academy of Sciences. 106(27). 11212–11217. 106 indexed citations
20.
Antonacci, Francesca, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, et al.. (2009). Characterization of six human disease-associated inversion polymorphisms. Human Molecular Genetics. 18(14). 2555–2566. 94 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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Peter M. Visscher Breakdown of academic impact, for papers by Adrian Bird Breakdown of academic impact, for papers by Shaun Purcell Breakdown of academic impact, for papers by Stephen W. Scherer Breakdown of academic impact, for papers by David Altshuler Breakdown of academic impact, for papers by James R. Lupski Breakdown of academic impact, for papers by Jay Shendure Breakdown of academic impact, for papers by Benjamin M. Neale Breakdown of academic impact, for papers by Paolo Sassone‐Corsi Breakdown of academic impact, for papers by R Myers
Rankless by CCL
2026