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Rocio Rius

Dr Rocio Rius

Role
Clinical Variant Curator

Selected publications

See all publications
  • 2022
    Human Mutation10.1002/humu.24453

    Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

    Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Christodoulou
  • 2020
    Med (New York, N.Y.)10.1016/j.medj.2020.06.004

    Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.

    Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu S C Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, Flora Y Wong, Marjo S van der Knaap, R Jeroen Vermeulen, Esko J Wiltshire, Janice M Fletcher, Barry Lewis, Gareth Baynam, Carolyn Ellaway, Shanti Balasubramaniam, Kaustuv Bhattacharya, Mary-Louise Freckmann, Susan Arbuckle, Michael Rodriguez, Ryan J Taft, Simon Sadedin, Mark J Cowley, André E Minoche, Sarah E Calvo, Vamsi K Mootha, Michael T Ryan, Yasushi Okazaki, David A Stroud, Cas Simons, John Christodoulou, David R Thorburn
  • 2020
    Genetics in Medicine : Official Journal of the American College of Medical Genetics10.1038/s41436-020-0793-6

    The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

    Lisa G Riley, Mark J Cowley, Velimir Gayevskiy, Andre E Minoche, Clare Puttick, David R Thorburn, Rocio Rius, Alison G Compton, Minal J Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M Sue, Shanti Balasubramaniam, John Christodoulou
  • 2019
    Genetics in Medicine : Official Journal of the American College of Medical Genetics10.1038/s41436-019-0568-0

    Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

    Rocio Rius, Mark J Cowley, Lisa Riley, Clare Puttick, David R Thorburn, John Christodoulou