Rocio Rius

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, et al.

Journal article  |  2023  |  Nat Commun

Mutations in the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired..

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

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yuksel, 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

Journal article  |  2022  |  HUMAN MUTATION

Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphor..

Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders

Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, Maria Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R DuPont, Mariet W Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S Fletcher, Florian Cherick, Aidin Foroutan, et al.

Journal article  |  2022  |  HUMAN MUTATION

An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as ep..

Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.

Lauren S Akesson, Rocio Rius, Natasha J Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G Compton, David R Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

Journal article  |  2022  |  JIMD Rep

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse popul..

Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease

Chathri Ratnayake, Rocio Rius, Mathew Wallis, Rajesh Raj, John Christodoulou

Journal article  |  2022  |  NEPHROLOGY

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R DuPont, Mariet W Elting, Laurence Faivre, Timothy Fee, Robin S Fletcher, Florian Cherik, Aidin Foroutan, Michael J Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A Hilton, et al.

Journal article  |  2022  |  HUMAN GENETICS AND GENOMICS ADVANCES

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the dia..

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Carolyn M Sue, Shanti Balasubramaniam, Drago Bratkovic, Catherine Bonifant, John Christodoulou, David Coman, Karen Crawley, Fabienne Edema-Hildebrand, Carolyn Ellaway, Roula Ghaoui, Maina Kava, Lisa S Kearns, Joy Lee, Christina Liang, David A Mackey, Sean Murray, Merrilee Needham, Rocio Rius, Jacqui Russell, Nicholas JC Smith, et al.

Journal article  |  2021  |  INTERNAL MEDICINE JOURNAL

This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage ..

Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation

You Wu, Shanti Balasubramaniam, Rocio Rius, David R Thorburn, John Christodoulou, Ilias Goranitis

Journal article  |  2021  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The diagnostic and clinical benefits of genomic sequencing are being increasingly demonstrated across multiple rare genetic condit..

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

Rocio Rius, Alison G Compton, Naomi L Baker, AnneMarie E Welch, David Coman, Maina P Kava, Andre E Minoche, Mark J Cowley, David R Thorburn, John Christodoulou

Journal article  |  2021  |  GENES

Mitochondrial diseases can be caused by pathogenic variants in nuclear or mitochondrial DNA-encoded genes that often lead to multi..

Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu SC 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, et al.

Journal article  |  2021  |  MED

BACKGROUND: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosi..