Rocío Rius

890 citations

10 papers · 162 indexed · h-index 8

Impact in

Clinical Biochemistry top 10%
- Metabolism and Genetic Disorders
Genetics
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities

Papers in ⓘ

Genetics 8
- Genomics and Rare Diseases 7
- Genetic and Kidney Cyst Diseases 1
- Hemoglobinopathies and Related Disorders 1
Molecular Biology 7
- Mitochondrial Function and Pathology 5
- RNA modifications and cancer 2
- Biochemical and Molecular Research 1

Co-authors: John Christodoulou (8 shared papers)David R. Thorburn (8 shared papers)Mark J. Cowley (6 shared papers)Lisa G. Riley (5 shared papers)Clare Puttick (2 shared papers)Shanti Balasubramaniam (3 shared papers)Alison G. Compton (6 shared papers)Maina Kava (3 shared papers)
Journals: European Journal of Human Genetics (2 papers)Genetics in Medicine (2 papers)Human Mutation (1 paper)Orphanet Journal of Rare Diseases (1 paper)Molecular Genetics and Metabolism (1 paper)
Partner nations: Australia United States United Kingdom

In The Last Decade

Rocío Rius

10 papers receiving 162 citations

Peers

Countries citing papers authored by Rocío Rius

Since Specialization

Citations

This map shows the geographic impact of Rocío Rius's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Rocío Rius with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Rocío Rius more than expected).

Fields of papers citing papers by Rocío Rius

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Rocío Rius. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Rocío Rius. The network helps show where Rocío Rius may publish in the future.

Co-authors

The 25 scholars most cited alongside Rocío Rius, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Rocío Rius Line = papers co-authored together Rocío Rius links everyone, so they are left out of the graph.

All Works

Sort: Min cites: Since: Top N: Style:

10 of 10 papers shown

#	Work
1	The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease Genetics in Medicine ·Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy, André E. Minoche, Clare Puttick, David R. Thorburn, Rocío Rius, Alison G. Compton, Minal Menezes, Kaustuv Bhattacharya, David Coman, Carolyn Ellaway, Ian E. Alexander, Louisa Adams, Maina Kava, Jacqui Robinson, Carolyn M. Sue, Shanti Balasubramaniam, John Christodoulou	2020	45
2	Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon Genetics in Medicine ·Rocío Rius, Mark J. Cowley, Lisa G. Riley, Clare Puttick, David R. Thorburn, John Christodoulou	2019	32
3	Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants Journal of Clinical Medicine ·Rocío Rius, Nicole J. Van Bergen, Alison G. Compton, Lisa G. Riley, Maina Kava, Shanti Balasubramaniam, David J. Amor, Miriam Fanjul‐Fernández, Mark J. Cowley, Michael Fahey, Mary Kay Koenig, Gregory M. Enns, Simon Sadedin, Meredith Wilson, Tiong Yang Tan, David R. Thorburn, John Christodoulou	2019	20
4	Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis Orphanet Journal of Rare Diseases ·Rosa Sousa, Cristina Gonçalves, Isabel Couto Guerra, Emília Costa, Ana Paula Fernandes, Maria do Bom Sucesso, Joana Azevedo, Alfredo Rodríguez, Rocío Rius, Carlos Seabra, Fátima Ferreira, Letícia Ribeiro, Anabela Ferrão, Sérgio Castedo, Esmeralda Cleto, Jorge Coutinho, Félix Carvalho, José Barbot, Beatriz Porto	2016	17
5	Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation European Journal of Human Genetics ·You Wu, Shanti Balasubramaniam, Rocío Rius, David R. Thorburn, John Christodoulou, Ilias Goranitis	2021	17
6	Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child Molecular Genetics and Metabolism ·Rocío 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, Håkon Håkonarson, John Christodoulou	2018	12
7	Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy Human Mutation ·Rocío 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	2022	9
8	Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases Genes ·Rocío Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina Kava, André E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou	2021	7
9	Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies JIMD Reports ·Lauren Akesson, Rocío Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda B. Bordador, Yiran Guo, Håkon Håkonarson, Alison G. Compton, David R. Thorburn, Sumudu S. C. Amarasekera, Justine E. Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou	2022	2
10	PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development European Journal of Human Genetics ·Laura Wedd, Yvonne Hort, Chirag Patel, John A. Sayer, Rocío Rius, Andrew J. Mallett, Denny L. Cottle, Ian Smyth, Timothy J. Furlong, John Shine, Amali Mallawaarachchi	2025	1

About Rocío Rius

Rocío Rius is a scholar working on Genetics, Molecular Biology, Clinical Biochemistry, Genetics and Pathology and Forensic Medicine, having authored 10 papers that have together received 162 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (7 papers), Metabolism and Genetic Disorders (5 papers), Mitochondrial Function and Pathology (5 papers), RNA modifications and cancer (2 papers), Genetic and Kidney Cyst Diseases (1 paper), Hemoglobinopathies and Related Disorders (1 paper), Genetic factors in colorectal cancer (1 paper) and Biochemical and Molecular Research (1 paper). The work is most often cited by research in Clinical Biochemistry (49 citations), Genetics (53 citations), Molecular Biology (109 citations), Cancer Research (9 citations) and Aging (1 citation). Rocío Rius has collaborated with scholars based in Australia, United States and United Kingdom. Frequent co-authors include John Christodoulou, David R. Thorburn, Mark J. Cowley, Lisa G. Riley, Clare Puttick, Shanti Balasubramaniam, Alison G. Compton, Maina Kava, Velimir Gayevskiy and David Coman. Their work appears in journals such as European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Orphanet Journal of Rare Diseases and Molecular Genetics and Metabolism.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact