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Rocio Rius

Dr Rocio Rius

Role
Team Lead – Clinical Variant Curator

Selected publications

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  • 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
  • 2025
    MedRxiv : The Preprint Server for Health Sciences10.1101/2025.05.19.25327921

    Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.

    Matthew J Welland, K D Ahlquist, Paul De Fazio, Christina Austin-Tse, Lynn Pais, Laura Wedd, Samantha Bryen, Rocio Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Gauthier, Alex Bloemendal, David I Francis, Andrew J Mallett, Amali Mallawaarachchi, Paul J Lockhart, Richard Leventer, Ingrid E Scheffer, Katherine B Howell, Karin S Kassahn, Hamish S Scott, Julie McGaughran, John Christodoulou, David R Thorburn, Bryony A Thompson, Chirag V Patel, Greg Smith, Anne O'Donnell-Luria, Simon Sadedin, Heidi L Rehm, Sebastian Lunke, Jeremiah Wander, Kaitlin E Samocha, Cas Simons, Daniel G MacArthur, Zornitza Stark
  • 2025
    Nature Genetics10.1038/s41588-025-02184-4

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

    Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kevin Uguen, Konrad Platzer, Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler, Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux-Boucher, Samantha J Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M D'Gama, Benjamin Dauriat, Jean-Madeleine de Sainte Agathe, Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hanna Fischer, Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar, Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M Greally, Bianca Greiten, Paul Gueguen, Anne-Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris, Julia Hentschel, Bénédicte Héron, Marc-Phillip Hitz, A Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais, Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost, Sophie Julia, Frank J Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija, Fabian Kilpert, Cordula Knopp, Florian Kraft, Ilona Krey, Marilyn Lackmy, Fanny Laffargue, Laetitia Lambert, Ryan Lamont, Vincent Laugel, Steven Laurie, Julie L Lauzon, Louis Lebreton, Marine Lebrun, Marine Legendre, Eric Leguern, Daphné Lehalle, Elodie Lejeune, Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart, Stanislas Lyonnet, Kevin Lüthy, Alan S Ma, Corinne Mach, Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May, Johannes A Mayr, Catherine Meridda, Vincent Michaud, Caroline Michot, Gwenael Nadeau, Sophie Naudion, Laetitia Nguyen, Mathilde Nizon, Frédérique Nowak, Sylvie Odent, Valerie Olin, Ikeoluwa A Osei-Owusu, Matthew Osmond, Katrin Õunap, Laurent Pasquier, Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin, Florence Petit, Christophe Philippe, Marc Planes, Annapurna Poduri, Céline Poirsier, Antoine Pouzet, Bradley Prince, Clément Prouteau, Aurora Pujol, Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway, André Reis, Mathilde Renaud, Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius, Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung, Hana Safraou, Véronique Satre, Pascale Saugier-Veber, Clément Sauvestre, Elise Schaefer, Wanqing Shao, Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin, Caroline Schluth-Bolard, Sarah Schuhmann, Christopher Schröder, Monisha Sebastin, Sabine Sigaudy, Malte Spielmann, Marta Spodenkiewicz, Laura St Clair, Julie Steffann, Radka Stoeva, Harald Surowy, Mark A Tarnopolsky, Calina Todosi, Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils, Clémence Vanlerberghe, Georgia Vasileiou, Gabriella Vera, André Verdel, Alain Verloes, Yoann Vial, Cédric Vignal, Marie Vincent, Catherine Vincent-Delorme, Aline Vincent-Devulder, Antonio Vitobello, Sacha Weber, Marjolaine Willems, Khaoula Zaafrane-Khachnaoui, Pia Zacher, Lena Zeltner, Alban Ziegler, Wojciech P Galej, Hélène Dollfus, Christel Thauvin, Kym M Boycott, Pierre Marijon, Alban Lermine, Valérie Malan, Marlène Rio, Alma Kuechler, Bertrand Isidor, Séverine Drunat, Thomas Smol, Nicolas Chatron, Amélie Piton, Gael Nicolas, Matias Wagner, Rami Abou Jamra, Delphine Héron, Cyril Mignot, Pierre Blanc, Anne O'Donnell-Luria, Nicola Whiffin, Camille Charbonnier, Clément Charenton, Julien Thevenon, Christel Depienne
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