Dr Daniella Hock
Research Fellow (Clinical Proteomics)
Department of Biochemistry and Pharmacology
41 Scholarly works
5 Projects
HIGHLIGHTS
2026
Journal article
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency
DOI: 10.1016/j.ajhg.2026.03.0032026
Journal article
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
DOI: 10.1002/jmd2.700922026
Journal article
Clinical proteomics in variant classification: are we there yet?
DOI: 10.1016/j.pathol.2026.01.2272026
Journal article
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics
DOI: 10.1002/ajmg.a.701912023
Research grants (other domestic)
High Performance Computer Workstations
2023
Research grants (ARC, NHMRC, MRFF)
Gene-Steps: Rapid Diagnosis and Tailored Management for Infantile Epilepsies
2022
Research grants (ARC, NHMRC, MRFF)
RDMassSpec: Mass-Spectrometry Based Functional Genomics Platform for Solving Rare Genetic Disorders
RECENT SCHOLARLY WORKS
2026
Journal article
A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency
DOI: 10.1002/jimd.701372025
Journal article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
DOI: 10.1186/s13073-025-01467-z2025
Journal article
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
DOI: 10.1038/s44321-025-00290-82025
Journal article
Microprotein SMIM26 drives oxidative metabolism via serine-responsive mitochondrial translation
DOI: 10.1016/j.molcel.2025.05.0332025
Journal article
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
DOI: 10.1101/2025.07.08.253308482025
Journal article
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
DOI: 10.1093/brain/awae371
RECENT PROJECTS
2025
Research grants (ARC, NHMRC, MRFF)
Australian Premature Ovarian Insufficiency NeTwork (A-Point): A National Patient-Centred Multiomics Study to Discover Causes of Early Menopause
2024
Research grants (ARC, NHMRC, MRFF)
OMIX3: High-Capacity Integrated Multi-Omics