Thomas Conway
2PUBLICATIONS
43CO-AUTHORS
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Publications (2)
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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
|Jun 08, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.Sebastian Lunke, Sophie E Bouffler, Chirag V Patel
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Frequent Collaborators
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Sebastian Lunke
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Sophie E Bouffler
1 joint publications
Meredith Wilson
1 joint publications
Tiong Y Tan
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Belinda Chong
1 joint publications
Karin S Kassahn
1 joint publications
Thuong Ha
1 joint publications
Peer Arts
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Hamish S Scott
1 joint publications
Gemma R Brett
