Dr Rocio Rius
Dr Rocio Rius
As a member of the Rare Disease Analysis Team, Rocio is a Clinical Variant Curator in the Population Analysis team.
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help families living with rare diseases find a diagnosis.
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help families living with rare diseases find a diagnosis.
As a member of the Rare Disease Analysis Team, Rocio is a Clinical Variant Curator in the Population Analysis team.
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help...
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help...
As a member of the Rare Disease Analysis Team, Rocio is a Clinical Variant Curator in the Population Analysis team.
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help families living with rare diseases find a diagnosis.
Rocio's primary focus is on the analysis of genomic data and the identification and interpretation of genetic variants to help families living with rare diseases find a diagnosis.
Top Publications
- Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A, Lord, J, Ganesh, VS, Ma, J, Martin-Geary, AC, et al. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.. medRxiv 2024 view publication
- Rius, R, Compton, AG, Baker, NL, Balasubramaniam, S, Best, S, Bhattacharya, K, Boggs, K, Boughtwood, T, Braithwaite, J, Bratkovic, D, et al. The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses. 2024 view publication
- Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.. Nat Commun 14(1) : 1009 2023 view publication
- Rius, R, Bennett, NK, Bhattacharya, K, Riley, LG, Yüksel, Z, Formosa, LE, Compton, AG, Dale, RC, Cowley, MJ, Gayevskiy, V, et al. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.. Hum Mutat 43(12) : 1970 -1978 2022 view publication
- Ratnayake, C, Rius, R, Wallis, M, Raj, R, Christodoulou, J. Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.. Nephrology (Carlton) 27(7) : 640 -641 2022 view publication
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