Evan E. Eichler

195.3k citations
523 papers · 123.3k · 74 hit papers · h-index 157

Impact in

  • Genetics top 0.01%
    • Genomic variations and chromosomal abnormalities
    • Genomics and Rare Diseases
    • Genetics and Neurodevelopmental Disorders
    • Genetic Associations and Epidemiology
    • Genomics and Phylogenetic Studies
    • RNA and protein synthesis mechanisms

Papers in

    • Genomic variations and chromosomal abnormalities 211
    • Genomics and Rare Diseases 120
    • Genetics and Neurodevelopmental Disorders 102
    • Genomics and Phylogenetic Studies 117
    • Genomics and Chromatin Dynamics 53
    • RNA and protein synthesis mechanisms 46

Evan E. Eichler

508 papers receiving 119.4k citations

Evan E. Eichler's Hit Papers

Complex genetic variation in nearly complete human genomes 2025 · 33 citations
330+1+2Years since publication50010001.5k

Peers

Evan E. Eichler
Comparison fields: 5 of 227
  • Genetics 57.0k
  • Molecular Biology 62.6k
  • Plant Science 20.7k
  • Cancer Research 6.9k
  • Cognitive Neuroscience 8.3k
Replace Mark Daly with:
Mark Daly United States
Richard A. Gibbs United States
Gonçalo R. Abecasis United States
Jay Shendure United States
Richard M. Myers United States
Richard M. Durbin United Kingdom
Huanming Yang China
Steven A McCarroll United States
Shaun Purcell United States
Heng Li China
Evan E. Eichler relative to Mark Daly United States Mark Daly's profile →
Citations per field
00.5×1.5×
Mark Daly · 1×
Citations per year

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-authors

The 25 scholars most cited alongside Evan E. Eichler, 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 Evan E. Eichler Line = papers co-authored together Evan E. Eichler links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 523 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Initial sequencing and analysis of the human genome
Hit paper breakdown →
200117763
2
Finding the missing heritability of complex diseases
Hit paper breakdown →
20096280
3
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Hit paper breakdown →
20113652
4
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
Hit paper breakdown →
20133308
5
A Draft Sequence of the Neandertal Genome
Hit paper breakdown →
20102912
6
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Hit paper breakdown →
20102162
7
The contribution of de novo coding mutations to autism spectrum disorder
Hit paper breakdown →
20141929
8
The complete sequence of a human genome
Hit paper breakdown →
20221737
9
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Hit paper breakdown →
20121728
10
Genome sequence of the Brown Norway rat yields insights into mammalian evolution
Hit paper breakdown →
20041679
11
An integrated map of structural variation in 2,504 human genomes
Hit paper breakdown →
20151624
12
Targeted capture and massively parallel sequencing of 12 human exomes
Hit paper breakdown →
20091544
13
The complete genome sequence of a Neanderthal from the Altai Mountains
Hit paper breakdown →
20131499
14
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Hit paper breakdown →
20081464
15
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
Hit paper breakdown →
20121392
16
Missing heritability and strategies for finding the underlying causes of complex disease
Hit paper breakdown →
20101297
17
A comparative encyclopedia of DNA elements in the mouse genome
Hit paper breakdown →
20141280
18
Genetic history of an archaic hominin group from Denisova Cave in Siberia
Hit paper breakdown →
20101279
19
Genome structural variation discovery and genotyping
Hit paper breakdown →
20111154
20
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
Hit paper breakdown →
20071081

About Evan E. Eichler

Evan E. Eichler is a scholar working on Genetics, Molecular Biology, Plant Science, Cognitive Neuroscience and Pediatrics, Perinatology and Child Health, having authored 523 papers that have together received 123.3k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (211 papers), Chromosomal and Genetic Variations (158 papers), Genomics and Rare Diseases (120 papers), Genomics and Phylogenetic Studies (117 papers), Genetics and Neurodevelopmental Disorders (102 papers), Autism Spectrum Disorder Research (62 papers), Genomics and Chromatin Dynamics (53 papers) and RNA and protein synthesis mechanisms (46 papers). The work is most often cited by research in Genetics (57.0k citations), Molecular Biology (62.6k citations), Plant Science (20.7k citations), Cancer Research (6.9k citations) and Cognitive Neuroscience (8.3k citations). Evan E. Eichler has collaborated with scholars based in United States, Italy and United Kingdom. Frequent co-authors include Can Alkan, Bradley P. Coe, Jeffrey A. Bailey, Santhosh Girirajan, John Huddleston, Jay Shendure, Deborah A. Nickerson, Carl A. Baker, Ze Cheng and Raphael Bernier. Their work appears in journals such as Nature, The American Journal of Human Genetics, Nature Genetics, Science and Nature Communications.

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