Joy Goffena
9PUBLICATIONS
111CO-AUTHORS
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Publications (9)
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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
|Sep 17, 2025
Long-read DNA sequencing resolves a rare case of alloimmune hemolysis mimicking autoimmune hemolysis.Hui Xiao Chao, Thomas Ma, Livia Hegerova
|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
|Feb 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.Monica H Wojcik, Robin D Clark, Abdallah F Elias
|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
|Aug 06, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.Christy W LaFlamme, Cassandra Rastin, Soham Sengupta
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Frequent Collaborators
5 joint publications
Danny E Miller
5 joint publications
Miranda Pg Zalusky
4 joint publications
Sophie Hr Storz
4 joint publications
Jonas A Gustafson
4 joint publications
Sophia B Gibson
3 joint publications
Zachery Anderson
3 joint publications
Sydney A Ward
2 joint publications
Phillip A Richmond
2 joint publications
Wouter De Coster
2 joint publications
Kendra Hoekzema
