Carolyn Jane Ellaway
7PUBLICATIONS
76CO-AUTHORS
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Publications (7)
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|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar
|Mar 13, 2026
An Australian standard of care for Niemann-Pick disease type C.Michel Tchan, Nicholas Smith, Heidi Peters
|Jun 11, 2025
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.Elaine Zhang, Teresa Zhao, Tim Sikora
|Jan 12, 2024
Fabry-specific treatment in Australia: time to align eligibility criteria with international best practices.Kathleen Nicholls, Charles Denaro, Michel Tchan
|Nov 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic
|Sep 10, 2021
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic
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Frequent Collaborators
4 joint publications
John Christodoulou
3 joint publications
Nicole J Van Bergen
3 joint publications
Shanti Balasubramaniam
2 joint publications
Simranpreet Kaur
2 joint publications
Maina Kava
2 joint publications
Michel Tchan
2 joint publications
Wendy A Gold
1 joint publications
Matthew Frank Hunter
1 joint publications
Breane Budaitis
1 joint publications
Yang Yue
