Liana N. Semcesen

Integrated multi-omics for rapid rare disease diagnosis on a national scale

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Raman Kumar, Mark Corbett, Nicholas Smith et al. · npj Genomic Medicine · 2022 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Inhibition of heme biosynthesis triggers cuproptosis in acute myeloid leukemia

Alexander C. Lewis, Emily Gruber, Rheana Franich et al. · Cell · 2025 · 15 citations

Medicine, Cell Biology, Oncology +13

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

Nicole J. Van Bergen, Karen Gunanayagam, Adam Bournazos et al. · International Journal of Molecular Sciences · 2023 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen et al. · Genome Medicine · 2025 · 12 citations · Full text

Life Sciences, Genetics, Molecular Biology +17