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
- Nava, C, Cogne, B, Santini, A, Leitão, E, Lecoquierre, F, Chen, Y, Stenton, SL, Besnard, T, Heide, S, Baer, S, et al. Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption. 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
- Jackson, A, Blakes, AJ, Wall, E, Clarke, N, Abdelhadi, O, Agrawal, S, Blair, E, Brady, AF, Brittain, H, Chandler, KE, et al. Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy. 2026 view publication
- Wedd, L, Hort, Y, Patel, C, Sayer, JA, Rius, R, Mallett, AJ, Cottle, DL, Smyth, IM, Furlong, T, Shine, J, et al. PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development.. Eur J Hum Genet 34(1) : 61 -69 2026 view publication
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