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Rocio Rius

Dr Rocio Rius

Role
Team Lead – Clinical Variant Curator

Selected publications

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  • 2025
    European Journal of Human Genetics : EJHG10.1038/s41431-025-01949-z

    PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development.

    Laura Wedd, Yvonne Hort, Chirag Patel, John A Sayer, Rocio Rius, Andrew J Mallett, Denny L Cottle, Ian M Smyth, Timothy Furlong, John Shine, Amali Mallawaarachchi
  • 2025
    Neurology. Genetics10.1212/NXG.0000000000200291

    Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

    Carlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, Michelle G de Silva, Aída Lemes, Cristina Zabala, Florencia Pérez-Vidarte, Alfredo Cerisola, Arastoo Vossough, Matthew T Whitehead, Chloe Cunningham, Natasha J Brown, Rebecca Quin, Cas Simons, Thomas Conway, Eloise Uebergang, Rocio Rius, Meutia A Kumaheri, Emma R Kotes, Ananya Vohra, Miranda P G Zalusky, Zachary B Anderson, Sophie H R Storz, Sydney A Ward, Joy Goffena, Jonas A Gustafson, Susan M White, Adeline Vanderver, Danny E Miller
  • 2025
    MedRxiv : The Preprint Server for Health Sciences10.1101/2025.07.08.25330848

    Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

    Sara M Fielder, Marisa W Friederich, Daniella H Hock, Jessie R Zhang, Liana M Valin, Jill A Rosenfeld, Kevin T A Booth, Natasha J Brown, Rocio Rius, Tanavi Sharma, Liana N Semcesen, Kim C Worley, Lindsay C Burrage, Kayla Treat, Tara Samson, Sarah Govert, Sara DaCunha, Weimin Yuan, Jian Chen, Jacob Lesinski, Hieu Hoang, Stephanie A Morrison, Farah A Ladha, Roxanne A Van Hove, Cole R Michel, Richard Reisdorph, Eric Tycksen, Dustin Baldridge, Gary A Silverman, Claudia Soler-Alfonso, Erin Conboy, Francesco Vetrini, Lisa Emrick, William J Craigen, , Stephen M Sykes, David A Stroud, Johan L K Van Hove, Tim Schedl, Stephen C Pak
  • 2025
    Nature Genetics10.1038/s41588-025-02274-3

    Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

    Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones, Meena Balasubramanian, Jennifer Campbell, Nora Shannon, Jungmin Choi, Juhyeon Hong, David Hunt, Anna de Burca, Soo Yeon Kim, Taekeun Kim, Seungbok Lee, Melody Redman, Rocio Rius, Cas Simons, Tiong Yang Tan, Jamie Ellingford, Raymond T O'Keefe, Jong Hee Chae, Siddharth Banka
  • 2025
    Nature Genetics10.1038/s41588-025-02209-y

    Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

    Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones, Meena Balasubramanian, Jennifer Campbell, Nora Shannon, Jungmin Choi, Juhyeon Hong, David Hunt, Anna de Burca, Soo Yeon Kim, Taekeun Kim, Seungbok Lee, Melody Redman, Rocio Rius, Cas Simons, Tiong Yang Tan, Jamie Ellingford, Raymond T O'Keefe, Jong Hee Chae, Siddharth Banka
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