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
- Rius, R, Blakes, AJM, Chen, Y, De Jonghe, J, Lecoquierre, F, Dawes, R, Cogne, B, Kim, HC, Alvi, JR, Amblard, F, et al. Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.. Nat Genet 58(6) : 1447 2026 view publication
- McGuigan, A, Pagnamenta, AT, Covill, LE, Samson, J, Camps, C, Chen, Y, Moitra, T, Chundru, K, O'Heir, E, Allan, K, et al. A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.. medRxiv 2026 view publication
- De Jonghe, J, Kim, HC, Adedeji, A, Leitão, E, Dawes, R, Kajba, CM, Cogné, B, Chen, Y, Blakes, AJM, Simons, C, et al. Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.. Nature 2026 view publication
- Jackson, A, Blakes, AJM, Alhaddad, B, Henry, OJ, Delgado-Vega, AM, Wall, E, Abdelhadi, O, Agrawal, S, Bakur, K, Blair, E, et al. Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.. Nat Genet 58(4) : 798 -809 2026 view publication
- Rius, R, Blakes, AJM, Chen, Y, De Jonghe, J, Lecoquierre, F, Dawes, R, Cogne, B, Kim, HC, Alvi, JR, Amblard, F, et al. Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.. Nat Genet 58(4) : 761 -773 2026 view publication
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