Evan E. Eichler
University of Washington
Public scientific profile · Unclaimed
Built from public scholarly sources. Expertise is inferred by ScienceWe from publications and has not been confirmed by the scientist.
Top expertise
Genomic variations and chromosomal abnormalities
Strong evidence · 7 supporting papers · latest 2026
Chromosomal and Genetic Variations
Strong evidence · 4 supporting papers · latest 2026
Genomics and Phylogenetic Studies
Strong evidence · 5 supporting papers · latest 2026
Genetic and rare skin diseases.
Solid evidence · 1 supporting paper · latest 2026
Genomics and Rare Diseases
Solid evidence · 4 supporting papers · latest 2026
Genetic Syndromes and Imprinting
Solid evidence · 2 supporting papers · latest 2026
Congenital heart defects research
Solid evidence · 1 supporting paper · latest 2026
Microtubule and mitosis dynamics
Solid evidence · 2 supporting papers · latest 2026
Publications (15)
A complete diploid human genome benchmark for personalized genomics
2026DOIPMID 41000953
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
2026DOIPMID 40385454
Pangenome discovery and characterization of human protein-coding duplicated genes
2026DOI
Sequence and epigenetic characterization of chromosome 21 centromeres in a family with recurrent Trisomy 21
2026DOI
A high-resolution human pangenome structural variant resource for improved disease association
2026DOI
A global view of human centromere variation and evolution
2026DOIPMID 41573929
A complete genome for the common marmoset
2026DOIPMID 42561915
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders
2026DOIPMID 42482100
Cross-species discovery of large structural variants reveals distinct evolutionary dynamics in primates
2026DOI
Human acrocentric chromosome short-arm de novo mutation and recombination
2026DOIPMID 42561914
A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
2026DOI
Himito: a graph-based toolkit for mitochondrial genome analysis using long reads
2026DOI
Jim Watson (1928–2025): a genomics visionary
2026DOI
Supplemental datasets for 'Distinct mechanisms of CNV formation at the human 15q13.3 locus'
2026DOI
Supplemental datasets for 'Distinct mechanisms of CNV formation at the human 15q13.3 locus'
2026DOI
Organizations in sourced records
Affiliation evidence only — not confirmed current employment.
- University of Washington
Source: OpenAlex · retrieved 2026-09-29