# Evan E. Eichler

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/evan-e-eichler/

## Facts

| Field | Value |
| --- | --- |
| Citations | 193,271 |
| Field | Genomic variations and chromosomal abnormalities |
| h-index | 193 |
| i10-index | 584 |
| Last Known Institution | Howard Hughes Medical Institute |
| OpenAlex ID | https://openalex.org/A5014870107 |
| ORCID iD | https://orcid.org/0000-0002-8246-4014 |
| Works | 865 |

## Researcher papers

Showing 12 of 14.

- [A Draft Sequence of the Neandertal Genome](https://scholariq.org/papers/a-draft-sequence-of-the-neandertal-genome/)
- [A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD](https://scholariq.org/papers/a-hexanucleotide-repeat-expansion-in-c9orf72-is-the-cause-of-chromosome-9p21/)
- [An integrated map of structural variation in 2,504 human genomes](https://scholariq.org/papers/an-integrated-map-of-structural-variation-in-2-504-human-genomes/)
- [Evolutionary and Biomedical Insights from the Rhesus Macaque Genome](https://scholariq.org/papers/evolutionary-and-biomedical-insights-from-the-rhesus-macaque-genome/)
- [The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution](https://scholariq.org/papers/the-genome-sequence-of-taurine-cattle-a-window-to-ruminant-biology-and-evolution/)
- [Mapping copy number variation by population-scale genome sequencing](https://scholariq.org/papers/mapping-copy-number-variation-by-population-scale-genome-sequencing/)
- [A high-coverage Neandertal genome from Vindija Cave in Croatia](https://scholariq.org/papers/a-high-coverage-neandertal-genome-from-vindija-cave-in-croatia/)
- [A global reference for human genetic variation](https://scholariq.org/papers/a-global-reference-for-human-genetic-variation-2/)
- [Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis](https://scholariq.org/papers/deletion-of-the-late-cornified-envelope-lce3b-and-lce3c-genes-as-a/)
- [Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel](https://scholariq.org/papers/integrating-sequence-and-array-data-to-create-an-improved-1000-genomes-project/)
- [Low copy number of the salivary amylase gene predisposes to obesity](https://scholariq.org/papers/low-copy-number-of-the-salivary-amylase-gene-predisposes-to-obesity/)
- [De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability](https://scholariq.org/papers/de-novo-mutations-in-protein-kinase-genes-camk2a-and-camk2b-cause-intellectual/)

## Researcher topics

- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Chromosomal and Genetic Variations](https://scholariq.org/topics/chromosomal-and-genetic-variations/)
- [Genomics and Phylogenetic Studies](https://scholariq.org/topics/genomics-and-phylogenetic-studies/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Researcher university

- [Howard Hughes Medical Institute](https://scholariq.org/institutions/howard-hughes-medical-institute/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.