Prof Melanie Bahlo
Honorary Professorial Fellow
Department of Medical Biology (WEHI)
397 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration
DOI: 10.1186/s13073-026-01658-22026
Journal article
Correction to: Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration (Genome Medicine, (2026), 18, 1, (54), 10.1186/s13073-026-01658-2)
DOI: 10.1186/s13073-026-01728-52026
Journal article
Precision Mapping of Retinal Disease: Identification of Differential Progression Trajectories via Imaging Phenomics
DOI: 10.1002/imm3.700542026
Journal article
PET–CT benchmarked detection and 5-year progression of asymptomatic tuberculosis: a longitudinal, prospective cohort study
DOI: 10.1016/S2213-2600(26)00056-12020
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
Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, identity-by-descent and model-based classification
DOI: 10.1016/j.isci.2026.1157992026
Journal article
Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases
DOI: 10.1016/j.ajhg.2026.03.0202026
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/awaf362