Rocío Rius

Also affiliated with The University of Melbourne, UNSW Sydney, Murdoch Children's Research Institute

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus”.

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Med(2020)10.1016/j.medj.2020.06.004

N/A

0DataRank · unranked

72 citations

Alison G. Compton, Yoshihito Kishita, Daniella H. Hock, AnneMarie E. Welch, Sumudu S. C. Amarasekera +40 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease

medRxiv(2024)10.1101/2024.12.18.24318806

N/A

0DataRank · unranked

1 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8

N/A

0DataRank · unranked

8 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease

Neurology Genetics(2025)10.1212/nxg.0000000000200291

N/A

0DataRank · unranked

3 citations

Katrina M. Bell, Ramakrishnan Rajagopalan, M. De Silva, Aída Lemes, Cristina Zoco Zabala +24 more

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848

N/A

0DataRank · unranked

1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more