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Sophie Hr Storz

4PUBLICATIONS
71CO-AUTHORS
Genetic immunologyNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Genomics
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Journal

Publications (4)

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|Sep 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan

|Jul 17, 2025
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.

Ria Thomas, Emily Miyoshi, Hasan O Akman

|Oct 02, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation.

Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju

|Mar 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.

Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju

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Frequent Collaborators

4 joint publications

Danny E Miller

4 joint publications

Joy Goffena

3 joint publications

Jonas A Gustafson

3 joint publications

Miranda Pg Zalusky

3 joint publications

Sydney A Ward

3 joint publications

Zachery Anderson

2 joint publications

Sophia B Gibson

2 joint publications

Kendra Hoekzema

2 joint publications

David Twesigomwe

2 joint publications

Anthony A Snead

Frequent Collaborators

4 joint publications

Danny E Miller

4 joint publications

Joy Goffena

3 joint publications

Jonas A Gustafson

3 joint publications

Miranda Pg Zalusky

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