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Evan E. Eichler | Researchclopedia

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Evan E. Eichler

Howard Hughes Medical Institute ORCID

858

Works

208,384

Citations

191

h-index

580

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Chromosomal and Genetic Variations Genomics and Phylogenetic Studies

Affiliations

Broad Institute2024–2024

Qingdao University2023–2023

Human Genome Sciences (United States)2006–2006

University of North Carolina at Chapel Hill2020–2020

Institució Catalana de Recerca i Estudis Avançats2015–2015

Top Works

Finding the missing heritability of complex diseases

Teri A. Manolio,Francis S. Collins,et al.

20098,469 citations

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

A Draft Sequence of the Neandertal Genome

Richard E. Green,Johannes Krause,et al.

20104,493 citations

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton,Elisa Majounie,et al.

20114,426 citations

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

Chen-Shan Chin,David H. Alexander,et al.

20134,306 citations

The complete sequence of a human genome

Sergey Nurk,Sergey Koren,et al.

20223,200 citations

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov,Brian J. O’Roak,et al.

20142,754 citations

An integrated map of structural variation in 2,504 human genomes

Peter H. Sudmant,Tobias Rausch,et al.

20152,622 citations

The complete genome sequence of a Neanderthal from the Altai Mountains

Kay Prüfer,Fernando Racimo,et al.

20132,372 citations