Eloise Uebergang
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- Wallis, M, Bodek, S, Munro, J, Rafehi, H, Bennett, MF, Ye, Z, Schneider, A, Gardiner, F, Valente, G, Murdoch, E, et al. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.. 2026 view publication
- Gonzalez, CAD, Bell, KM, Rajagopalan, R, de Silva, MG, Lemes, A, Zabala, C, Pérez, F, Cerisola, A, Vossough, A, Whitehead, MT, et al. A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease. 2026 view publication
- Rius, R, Blakes, AJ, Chen, Y, De Jonghe, J, Alvi, JR, Amblard, F, Austin-Tse, C, Baer, S, Balasubramanian, M, Balton, EV, et al. Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. 2026 view publication
- Dominguez Gonzalez, CA, Bell, KM, Rajagopalan, R, de Silva, MG, Lemes, A, Zabala, C, Pérez-Vidarte, F, Cerisola, A, Vossough, A, Whitehead, MT, et al. Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.. Neurol Genet 11(5) : e200291 2025 view publication
- Wilson, E, Leventer, R, Cunningham, C, de Silva, MG, Hodgson, J, Uebergang, E. Anything is better than nothing': exploring attitudes towards novel therapies in leukodystrophy clinical trials.. Orphanet J Rare Dis 19(1) : 322 2024 view publication
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