Prof Melanie Bahlo
Honorary (Professorial Fellow)
Department of Medical Biology (WEHI)
391 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
The E3-ome gene-centric compendium reveals the human E3 ligase landscape
DOI: 10.1016/j.cell.2026.01.0292026
Journal article
Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder
DOI: 10.1016/j.gim.2026.1016852026
Journal article
MTORopathy With Striking Progression on Imaging in Adulthood
DOI: 10.1212/wn9.00000000000000562026
Journal article
Epilepsy concordance in monozygotic twins: the role of common genetic variants
DOI: 10.1093/brain/awaf3622020
Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
DOI: 10.1038/s41431-020-0606-z2020
Journal article
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
DOI: 10.1186/s13059-020-02017-z2018
Journal article
Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
DOI: 10.12688/f1000research.13980.1
RECENT SCHOLARLY WORKS
2026
Journal article
Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration
DOI: 10.1111/ceo.146072026
Journal article
PET–CT benchmarked detection and 5-year progression of asymptomatic tuberculosis: a longitudinal, prospective cohort study
DOI: 10.1016/S2213-2600(26)00056-12025
Journal article
HTRA1/lncRNA HTRA1-AS1 dominates in age-related macular degeneration reticular pseudodrusen genetic risk with no complement involvement
DOI: 10.1038/s41467-025-65903-92025
Journal article
Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson’s disease and Lewy Body Dementia cohorts
DOI: 10.1038/s41531-025-01188-52025
Journal article
Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis
DOI: 10.1038/s42003-025-09021-82025
Journal article
Multi-omic spatial effects on high-resolution AI-derived retinal thickness
DOI: 10.1038/s41467-024-55635-7