Rocio Rius

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

Elena J Tucker, Rocio Rius, Sylvie Jaillard, Katrina Bell, Phillipa J Lamont, Andre Travessa, Juliette Dupont, Lurdes Sampaio, Jerome Dulon, Sandrine Vuillaumier-Barrot, Sandra Whalen, Arnaud Isapof, Tanya Stojkovic, Susana Quijano-Roy, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrea Simpson, Katie Ayers, David R Thorburn, et al.

Journal article  |  2020  |  HUMAN GENETICS

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficienc..

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

Journal article  |  2019  |  GENETICS IN MEDICINE

PURPOSE: A recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to conce..

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams, Carolyn Ellaway, David R Thorburn, Hakon Hakonarson, John Christodoulou

Journal article  |  2019  |  MOLECULAR GENETICS AND METABOLISM

BACKGROUND: In almost half of patients with acute liver failure the cause is unknown, making targeted treatment and decisions abou..