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R

Rocío Rius

garvan institute of medical research and unsw sydney

15H-index
45Paper Count
890Citation Count
Published Papers 22
Publication Date
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Automated reanalysis of genomic data for rare disease diagnostics at scale
errNature Medicine
IF50
err2026-06-24
err0
errOAAI
errMatthew 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
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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-05-18
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinet; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3
errActa Neuropathologica
IF9.3
err2026-04-27
err0
errOAAI
errMichaela Yuen; Katharine Zhang; Rhett G. Marchant; Ryosuke Ishimura; Mark Graham; May Aung-Htut; Samantha Bryen; Rocio Rius; Lee Marshall; Nader Aryamanesh; Gregory Dziaduch; Himanshu Joshi; Ben Weisburd; Steve D. Wilton; Meredith Wilson; Russell Gear; Lucy Hennington; Stephanie Lau; Helen Doyle; Michael Krivanek; Richard J. Leventer; Susan M. White; Sarah A. Sandaradura; Masaaki Komatsu; Frances J. Evesson; Sandra T. Cooper
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errSave
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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errSave
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
errNature
IF48.5
err2026-04-08
err0
errOAAI
errJoachim De Jonghe; Hyung Chul Kim; Ayanfeoluwa Adedeji; Elsa Leitão; Ruebena Dawes; Christina M. Kajba; Benjamin Cogné; Yuyang Chen; Alexander J. M. Blakes; Cas Simons; Rocio Rius; Javeria R. Alvi; Florence Amblard; Christina Austin-Tse; Sarah Baer; Elsa V. Balton; Pierre Blanc; Daniel G. Calame; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Katrina M. Dipple; Haowei Du; Salima El Chehadeh; Ian Glass; Joseph G. Gleeson; Olivier Grunewald; Paul Gueguen; Radu Harbuz; Marie-Line Jacquemont; Richard J. Leventer; Pierre Marijon; Olfa Messaoud; Tipu Sultan; Christel Thauvin; Catherine Vincent-Delorme; Elif Yilmaz Gulec; Julien Thevenon; Rodrigo Mendez; Daniel G. MacArthur; Christel Depienne; Caroline Nava; Nicola Whiffin; Gregory M. Findlay
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ISGylation is disrupted by UBA7 gene variants identified in individuals with neurodevelopmental disorder phenotypes
erriScience
IF4.1
err2026-03-30
err0
errOAAI
errVenkateshwarlu Bandi; Myrrhe Venema; Iona Wallace; Merel O. Mol; Anita Nikoncuk; Rachel Schot; Marjon van Slegtenhorst; Emilia K. Bijlsma; Amjad Khan; Susan M. White; Rocio Rius; Martin B. Delatycki; Vinodh Narayanan; Kirby N. Swatek; Tahsin Stefan Barakat; Francisco Bustos
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PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development
errEuropean Journal of Human Genetics
IF4.6
err2025-09-26
err0
errOAAI
errLaura Wedd; Yvonne Hort; Chirag Patel; John A. Sayer; Rocio Rius; Andrew J. Mallett; Denny L. Cottle; Ian M. Smyth; Timothy Furlong; John Shine; Amali Mallawaarachchi
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Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
errNature Genetics
IF0
err2025-06-24
err0
errOAAI
errAdam 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
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errSave
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
errNATURE COMMUNICATIONS
IF15.7
err2023-02-23
err10
errOAAI
errVan Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita
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errSave
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy
errHUMAN MUTATION
IF3.7
err2022-09-07
err6
errOAAI
errRius, Rocio; Bennett, Neal K.; Bhattacharya, Kaustuv; Riley, Lisa G.; Yuksel, Zafer; Formosa, Luke E.; Compton, Alison G.; Dale, Russell C.; Cowley, Mark J.; Gayevskiy, Velimir; Al Tala, Saeed M.; Almehery, Abdulrahman A.; Ryan, Michael T.; Thorburn, David R.; Nakamura, Ken; Christodoulou, John
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
errHUMAN MUTATION
IF3.7
err2022-08-21
err46
errOAAI
errLevy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2022-01-01
err106
errOAAI
errLevy, Michael A.; McConkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S.; Cherik, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Kerrnohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
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errSave
Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2021-06-08
err16
errOAAI
errWu, You; Balasubramaniam, Shanti; Rius, Rocio; Thorburn, David R.; Christodoulou, John; Goranitis, Ilias
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errSave
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
errMED
IF11.8
err2021-01-01
err37
errOAAI
errFrazier, Ann E.; Compton, Alison G.; Kishita, Yoshihito; Hock, Daniella H.; Welch, AnneMarie E.; Amarasekera, Sumudu S. C.; Rius, Rocio; Formosa, Luke E.; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J.; Tregoning, Simone; Jabbari, Jafar S.; Lucattini, Alexis; Nitta, Kazuhiro R.; Ohtake, Akira; Murayama, Kei; Amor, David J.; McGillivray, George; Wong, Flora Y.; van der Knaap, Marjo S.; Vermeulen, R. Jeroen; Wiltshire, Esko J.; Fletcher, Janice M.; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J.; Sadedin, Simon; Cowley, Mark J.; Minoche, Andre E.; Calvo, Sarah E.; Mootha, Vamsi K.; Ryan, Michael T.; Okazaki, Yasushi; Stroud, David A.; Simons, Cas; Christodoulou, John; Thorburn, David R.
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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
errGENETICS IN MEDICINE
IF6.2
err2020-07-01
err50
errOAAI
errRiley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Minoche, Andre E.; Puttick, Clare; Thorburn, David R.; Rius, Rocio; Compton, Alison G.; Menezes, Minal J.; Bhattacharya, Kaustuv; Coman, David; Ellaway, Carolyn; Alexander, Ian E.; Adams, Louisa; Kava, Maina; Robinson, Jacqui; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John
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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)
errHUMAN GENETICS
IF3.6
err2020-05-12
err35
PREAI
errTucker, Elena J.; Rius, Rocio; Jaillard, Sylvie; Bell, Katrina; Lamont, Phillipa J.; Travessa, Andre; Dupont, Juliette; Sampaio, Lurdes; Dulon, Jerome; Vuillaumier-Barrot, Sandrine; Whalen, Sandra; Isapof, Arnaud; Stojkovic, Tanya; Quijano-Roy, Susana; Robevska, Gorjana; van den Bergen, Jocelyn; Hanna, Chloe; Simpson, Andrea; Ayers, Katie; Thorburn, David R.; Christodoulou, John; Touraine, Philippe; Sinclair, Andrew H.
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errSave
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon
errGENETICS IN MEDICINE
IF6.2
err2019-12-01
err40
errOAAI
errRius, Rocio; Cowley, Mark J.; Riley, Lisa; Puttick, Clare; Thorburn, David R.; Christodoulou, John
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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2019-11-19
err26
errOAAI
errRius, Rocio; Van Bergen, Nicole J.; Compton, Alison G.; Riley, Lisa G.; Kava, Maina P.; Balasubramaniam, Shanti; Amor, David J.; Fanjul-Fernandez, Miriam; Cowley, Mark J.; Fahey, Michael C.; Koenig, Mary K.; Enns, Gregory M.; Sadedin, Simon; Wilson, Meredith J.; Tan, Tiong Y.; Thorburn, David R.; Christodoulou, John
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Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2019-04-17
err0
errOAAI
errHayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau
errShare
errSave
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2019-02-17
err19
errOAAI
errHayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau
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errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
H
Håkon Håkonarson
H-index: 177 · Papers: 1.5K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
H
Henry Houlden
H-index: 120 · Papers: 1.5K
D
Daniel G. MacArthur
H-index: 113 · Papers: 449
V
Vamsi K. Mootha
H-index: 109 · Papers: 367
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