Evan Eichler

Howard Hughes Medical Institute

United States

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Articles (23)

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2025

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2020

Collaborators (12)

Trygve Bakken

Allen Institute for Brain Science

UNITED STATES

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Chang Kim

University of California, San Francisco

UNITED STATES

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Arvis Sulovari

Principal Scientist

UNITED STATES

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Hisashi Tanaka

Professor

Cedars-Sinai Medical Center

UNITED STATES

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John Carey

Editor-in-Chief

UNITED STATES

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Jessica Bradshaw

Associate Professor

University of South Carolina

UNITED STATES

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Paul Valdmanis

Associate Professor

University of Washington

UNITED STATES

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Jana Ebler

Heinrich Heine University Düsseldorf

GERMANY

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Kay Davies

Founder Member (with Profs M Wood and K Talbot)

University of Oxford

UNITED KINGDOM

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David Porubsky

UNITED STATES

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Judith G. Hall

Professor Emerita

The University of British Columbia

CANADA

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Tobias Marschall

Heinrich Heine University Düsseldorf

GERMANY

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Evan Eichler

Research Interests

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Articles (23)

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

SVbyEye: a visual tool to characterize structural variation among whole-genome assemblies

MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants

Personal journeys to and in human genetics and dysmorphology

A 25-year odyssey of genomic technology advances and structural variant discovery

Identification and annotation of centromeric hypomethylated regions with CDR-Finder

Deficiency of DDX3X results in neurogenesis defects and abnormal behaviors via dysfunction of the Notch signaling

Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing

AGAPduplicons associate with structural diversity at Chromosome 10q11.22

Sampling a wide swathe of primate genetic diversity

Applications of long-read sequencing to Mendelian genetics

Advances in the discovery and analyses of human tandem repeats

Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes

Characterization of the immunoglobulin lambda chain locus from diverse populations reveals extensive genetic variation

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA

Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA

Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats

Mining the gaps of chromosome 8

Long-read human genome sequencing and its applications

Collaborators (12)

Trygve Bakken

Chang Kim

Arvis Sulovari

Hisashi Tanaka

John Carey

Jessica Bradshaw

Paul Valdmanis

Jana Ebler

Kay Davies

David Porubsky

Judith G. Hall

Tobias Marschall

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