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Rocio Rius

Dr Rocio Rius

Role
Team Lead – Clinical Variant Curator

Selected publications

See all publications
  • 2026
    Nature Genetics10.1038/s41588-026-02636-5

    Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

    Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin
  • 2026
    Acta Neuropathologica10.1007/s00401-026-03017-2

    A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

    Michaela Yuen, Katharine Zhang, Rhett G Marchant, Ryosuke Ishimura, Mark Graham, May Aung-Htut, Samantha Bryen, Rocio Rius, Lee Marshall, Nader Aryamanesh, Gregory Dziaduch, Himanshu Joshi, Ben Weisburd, Steve D Wilton, Meredith Wilson, Russell Gear, Lucy Hennington, Stephanie Lau, Helen Doyle, Michael Krivanek, Richard J Leventer, Susan M White, Sarah A Sandaradura, Masaaki Komatsu, Frances J Evesson, Sandra T Cooper
  • 2026
    American Journal of Human Genetics10.1016/j.ajhg.2026.03.010

    Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

    Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M Bertoli-Avella, Salem Alawbathani, Elizabeth E Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, , Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A L Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche
  • 2026
    Nature Genetics10.1038/s41588-026-02554-6

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

    Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E McGinnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G MacArthur, Cas Simons, Nicola Whiffin
  • 2026
    Nature10.1038/s41586-026-10334-9

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

    Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Christina M Kajba, Benjamin Cogné, Yuyang Chen, Alexander J M Blakes, Cas Simons, Rocio Rius, Javeria R Alvi, Florence Amblard, Christina Austin-Tse, Sarah Baer, Elsa V Balton, Pierre Blanc, Daniel G Calame, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Katrina M Dipple, Haowei Du, Salima El Chehadeh, Ian Glass, Joseph G Gleeson, Olivier Grunewald, Paul Gueguen, Radu Harbuz, Marie-Line Jacquemont, Richard J Leventer, Pierre Marijon, Olfa Messaoud, Tipu Sultan, Christel Thauvin, Catherine Vincent-Delorme, Elif Yilmaz Gulec, Julien Thevenon, Rodrigo Mendez, Daniel G MacArthur, Christel Depienne, Caroline Nava, Nicola Whiffin, Gregory M Findlay