Concepedia

Rocío Rius

RR

21

Publications

847

Citations

15

H-Index

2016

Active since

Affiliations

The University of Melbourne(Current)

Murdoch Children's Research Institute

UNSW Sydney

Victorian Clinical Genetics Services

Children's Hospital at Westmead

Rocío Rius is an author at The University of Melbourne specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2016–2025

21

Publications

21

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

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 149 citations · Full text

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

Lisa G. Riley, Mark J. Cowley, Velimir Gayevskiy et al. · Genetics in Medicine · 2020 · 94 citations · Full text

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

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

Michael A. Levy, Raissa Relator, Haley McConkey et al. · Human Mutation · 2022 · 76 citations · Full text

, , +17

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

Ann E. Frazier, Alison G. Compton, Yoshihito Kishita et al. · Med · 2020 · 68 citations · Full text

, , +7

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