Ms Liana Semcesen
Research Officer
Department of Biochemistry and Pharmacology
12 Scholarly works
0 Projects
HIGHLIGHTS
2026
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
Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemia
DOI: 10.1016/j.cell.2025.10.0282026
Journal article
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy
DOI: 10.1002/ana.782682025
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
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.
DOI: 10.1101/2025.07.08.25330848
RECENT SCHOLARLY WORKS
2024
Book Chapter
Generating mammalian knock-out cell lines to investigate mitochondrial protein complex assembly
DOI: 10.1016/bs.mie.2024.07.0562023
Journal article
Integrated multi-omics for rapid rare disease diagnosis on a national scale
DOI: 10.1038/s41591-023-02401-92023
Journal article
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma
DOI: 10.3390/ijms24043582