RR
Rocio Rius
Also known as: Rocio Rius-Dominguez
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Metabolism and Genetic Disorders · Mitochondrial Function and Pathology
0000-0002-9871-3126
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Publications (36)
- Establishing The Australian Undiagnosed Diseases Network (UDN-Aus); Australia’s first national rare disease diagnostic network Save
- Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype Save
- Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease Save
- Automated reanalysis of genomic data for rare disease diagnostics at scale Save
- Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Save
- PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development Save
- Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders Save
- Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts Save
- Saturation genome editing ofRNU4-2reveals distinct dominant and recessive neurodevelopmental disorders Save
- The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses Save
- A Diagnostic Blind Spot: Deep intronic SVA_E Insertion identified as the most Common Pathogenic Variant Associated with Canavan Disease Save
- De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Save
- De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Save
- Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption Save
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Save
- The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses Save
- Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease Save
- Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy Save
- Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies Save