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

5 papers align trajectories

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.

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

2013 3.1k citations Chen-Shan Chin, John Huddleston et al. profile →
Targeted capture and massively parallel sequencing of 12 human exomes

2009 1.3k citations Evan E. Eichler, Jay Shendure et al. profile →
Missing heritability and strategies for finding the underlying causes of complex disease

2010 1.1k citations Evan E. Eichler et al. profile →
Genome structural variation discovery and genotyping

2011 1.0k citations Evan E. Eichler et al. profile →
Recent Segmental Duplications in the Human Genome

2002 958 citations Evan E. Eichler et al. Science profile →
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

2011 806 citations Laura Vives, Carl Baker et al. profile →
Fine-scale structural variation of the human genome

2005 742 citations Evan E. Eichler et al. profile →
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 →
Long-read human genome sequencing and its applications

2020 589 citations Glennis A. Logsdon, Mitchell R. Vollger et al. profile →
Limitations of next-generation genome sequence assembly

2010 508 citations Evan E. Eichler et al. profile →
Personalized copy number and segmental duplication maps using next-generation sequencing

2009 505 citations Jeffrey M. Kidd, Tomàs Marquès‐Bonet et al. profile →
Resolving the complexity of the human genome using single-molecule sequencing

2014 499 citations Mark Chaisson, John Huddleston et al. profile →
HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

2020 384 citations Sergey Nurk, Mitchell R. Vollger et al. Genome Research profile →
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 →
Excess of rare, inherited truncating mutations in autism

2015 345 citations Carl Baker, Laura Vives et al. profile →
Characterizing the Major Structural Variant Alleles of the Human Genome

2019 269 citations Peter A. Audano, Arvis Sulovari et al. profile →
Telomere-to-telomere assembly of diploid chromosomes with Verkko

2023 177 citations Sergey Nurk, Glennis A. Logsdon et al. profile →
Segmental duplications and their variation in a complete human genome

2022 152 citations Mitchell R. Vollger, Xavi Guitart et al. Science profile →
Epigenetic patterns in a complete human genome

2022 146 citations Ariel Gershman, Xavi Guitart et al. Science profile →
The variation and evolution of complete human centromeres

2024 67 citations Glennis A. Logsdon, Allison N. Rozanski et al. profile →

Peers

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

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

20 of 20 papers shown

#	Work	Indexed citations
1	SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies 2025 ·Bioinformatics ·David Porubský, Xavi Guitart, DongAhn Yoo, Philip C. Dishuck, William T. Harvey, Evan E. Eichler	7
2	AGAPduplicons associate with structural diversity at Chromosome 10q11.22 2024 ·Genome Research ·(unknown), (unknown), William T. Harvey, Philip C. Dishuck, Evan E. Eichler, Giuliana Giannuzzi	0
3	Effects of parental age and polymer composition on short tandem repeat de novo mutation rates 2024 ·Genetics ·Michael E. Goldberg, (unknown), Evan E. Eichler, Aaron R. Quinlan, Kelley Harris	3
4	Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies 2024 ·European Journal of Human Genetics ·Lucia Micale, (unknown), Carmela Fusco, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Maria Lisa Dentici, Chiara Aiello, Antonio Novelli, (unknown), Yang Sui, Evan E. Eichler, Davide Cacchiarelli, George Mavrothalassitis, Marco Castori	1
5	Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants 2024 ·Autism Research ·Caitlin M. Hudac, (unknown), (unknown), Trent D. DesChamps, (unknown), Rachel K. Earl, Evangeline C. Kurtz‐Nelson, Jessica Bradshaw, (unknown), Evan E. Eichler, Emily Neuhaus, Sara Jane Webb, Frederick Shic	1
6	Applications of long-read sequencing to Mendelian genetics 2023 ·Genome Medicine ·Francesco Mastrorosa, Danny E. Miller, Evan E. Eichler	50
7	Characterization of large-scale genomic differences in the first complete human genome 2023 ·Genome biology ·Xiangyu Yang, (unknown), Yawen Zou, Shilong Zhang, (unknown), (unknown), Mitchell R. Vollger, Nae-Chyun Chen, Dylan J. Taylor, William T. Harvey, Glennis A. Logsdon, Dan Meng, (unknown), Rajiv C. McCoy, Michael C. Schatz, Weidong Li, Evan E. Eichler, Qing Lü, Yafei Mao	10
8	Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes 2023 ·The American Journal of Human Genetics ·Karen H. Miga, Evan E. Eichler	12
9	Characterizing the autism spectrum phenotype in DYRK1A‐related syndrome 2023 ·Autism Research ·Evangeline C. Kurtz‐Nelson, (unknown), (unknown), Caitlin M. Hudac, Tianyun Wang, Rachel K. Earl, Raphael Bernier, Evan E. Eichler, Emily Neuhaus	7
10	ELOA3 : A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster 2023 ·Science Advances ·Marc A. Morgan, (unknown), Marta Iwanaszko, Yuki Aoi, DongAhn Yoo, (unknown), (unknown), Kathryn A. Helmin, (unknown), (unknown), (unknown), Benjamin D. Singer, Evan E. Eichler, Ali Shilatifard	1
11	Segmental duplications and their variation in a complete human genome breakdown → 2022 ·Science ·Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, Mark Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, David Porubský, (unknown), Sergey Nurk, Sergey Koren, Karen H. Miga, Adam M. Phillippy, Winston Timp, Mario Ventura, Evan E. Eichler	152
12	GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads 2022 ·Bioinformatics ·Philip C. Dishuck, Allison N. Rozanski, Glennis A. Logsdon, David Porubský, Evan E. Eichler	4
13	StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps 2022 ·Bioinformatics ·Mitchell R. Vollger, Peter Kerpedjiev, Adam M. Phillippy, Evan E. Eichler	67
14	Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA 2021 ·Proceedings of the National Academy of Sciences ·(unknown), (unknown), Arvis Sulovari, Ryusuke Suzuki, Beth Osia, Anna Malkova, Makoto Katsumata, Armando E. Giuliano, Evan E. Eichler, Hisashi Tanaka	15
15	Phenotype‐to‐genotype approach reveals head‐circumference‐associated genes in an autism spectrum disorder cohort 2019 ·Clinical Genetics ·Huidan Wu, Honghui Li, Ting Bai, Lin Han, Jianjun Ou, Guanglei Xun, Yu Zhang, Yazhe Wang, Guiqin Duan, (unknown), Biyuan Chen, Xiaogang Du, Meiling Yao, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Evan E. Eichler, Hui Guo, Kun Xia	27
16	Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads 2019 ·Annals of Human Genetics ·Mitchell R. Vollger, Glennis A. Logsdon, Peter A. Audano, Arvis Sulovari, David Porubský, Paul Peluso, Aaron M. Wenger, Gregory T. Concepcion, Zev Kronenberg, Katherine M. Munson, Carl Baker, Ashley D. Sanders, Diana C.J. Spierings, Peter M. Lansdorp, Urvashi Surti, Michael W. Hunkapiller, Evan E. Eichler	81
17	Long-read sequence assembly of the gorilla genome 2016 ·Science ·David Gordon, John Huddleston, Mark Chaisson, C. Hill, Zev Kronenberg, Katherine M. Munson, Maika Malig, Archana N. Raja, Ian T. Fiddes, LaDeana Hillier, Christopher Dunn, Carl Baker, Joel Armstrong, Mark Diekhans, Benedict Paten, Jay Shendure, Richard K. Wilson, David Haussler, Chen-Shan Chin, Evan E. Eichler	218
18	Accelerated exon evolution within primate segmental duplications 2013 ·Genome biology ·Belén Lorente-Galdós, (unknown), Gabriel Santpere, Laura Vives, Óscar Ramírez, Jessica Hernández-Rodríguez, Roger Anglada, Gregory M. Cooper, Arcadi Navarro, Evan E. Eichler, Tomàs Marquès‐Bonet	12
19	Programmed loss of millions of base pairs from a vertebrate genome 2009 ·Proceedings of the National Academy of Sciences ·Jeramiah J. Smith, Francesca Antonacci, Evan E. Eichler, Chris T. Amemiya	106
20	Characterization of six human disease-associated inversion polymorphisms 2009 ·Human Molecular Genetics ·Francesca Antonacci, Jeffrey M. Kidd, Tomàs Marquès‐Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E. Eichler	94

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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