Sophie Hr Storz
4PUBLICATIONS
71CO-AUTHORS
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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
