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E

Evan E. Eichler

University of WashingtonORCID https://orcid.org/0000-0002-8246-4014

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Impact (2-yr)

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Top Publications

Initial sequencing and analysis of the human genome

Nature200124,452 citations

A global reference for human genetic variation

Nature201519,538 citations

Finding the missing heritability of complex diseases

Nature20098,468 citations

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

Neuron20114,424 citations

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

Nature Methods20134,306 citations

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

The American Journal of Human Genetics20102,855 citations

Missing heritability and strategies for finding the underlying causes of complex disease

Nature Reviews Genetics20101,747 citationsFirst authorCorresponding

Genome structural variation discovery and genotyping

Nature Reviews Genetics20111,696 citations

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Genome Research20171,257 citations

Segmental Duplications and Copy-Number Variation in the Human Genome

The American Journal of Human Genetics2005975 citationsCorresponding

Evan E. Eichler · Scinovex