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Methods in Enzymology|November 2, 2024
Generating mammalian knock-out cell lines to investigate mitochondrial protein complex assemblyLiana N Semcesen, David R L Robinson, David A StroudJIMD Reports|April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid ProteomicsLiana N Semcesen, Megan Ball, Daniella H Hock, et al.NPJ Genomic Medicine|January 29, 2022
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.Cell|November 20, 2025
Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemiaAlexander C Lewis, Emily Gruber, Rheana Franich, et al.Journal of Inherited Metabolic Disease|July 13, 2026
NAXD Deficiency: Heterogeneous Phenotypes and Positive Response to Niacin TreatmentNajmesadat Seyedkatouli, Liana N Semcesen, Lucia Gallucci, et al.Genome Medicine|May 21, 2025
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesDaniella H Hock, Nikeisha J Caruana, Liana N Semcesen, et al.Medrxiv : the Preprint Server for Health Sciences|July 17, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.EMBO Molecular Medicine|August 26, 2025
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disordersSara M Fielder, Marisa W Friederich, Daniella H Hock, et al.Pageof 2