Dr Khalid Mahmood
Bioinformatician - Melbourne Bioinformatics
Melbourne Bioinformatics (VLSCI)
64 Scholarly works
1 Projects
HIGHLIGHTS
2026
Journal article
Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers
DOI: 10.1007/s10689-025-00519-y2026
Journal article
Coexisting genetic kidney disease explains many cases of ‘familial’ IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits
DOI: 10.3389/fmed.2025.16476952025
Journal article
Abstract PR004: Mutational signature profiling identifies a distinct subgroup of early-onset colorectal cancer associated with younger age at diagnosis, recent birth year and specific genomic features
DOI: 10.1158/1557-3265.earlyonsetca25-pr0042025
Journal article
Abstract B017: Trends in early-onset colorectal, appendiceal, and anal tumour incidence by histological subtype in Australia from 1990 to 2020: A population-based time-series analysis
DOI: 10.1158/1557-3265.earlyonsetca25-b0172025
Journal article
Abstract C020: Novel insights from the investigation of experimental mutational signatures in early-onset colorectal cancer and colonic polyps
DOI: 10.1158/1557-3265.earlyonsetca25-c0202025
Journal article
Abstract C021: Characterizing the clinicopathological, genomic and spatial transcriptomic features of colibactin-induced colorectal cancers
DOI: 10.1158/1557-3265.earlyonsetca25-c0212022
Research grants (other domestic)
Linking Gut Bacteria to the Development of Early Onset Colorectal Cancer Using Multi-Omic Profiling
RECENT SCHOLARLY WORKS
2025
Journal article
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures
DOI: 10.1007/s10689-025-00506-32025
Journal article
Age-specific trends in colorectal, appendiceal, and anal tumour incidence by histological subtype in Australia from 1990 to 2020: a population-based time-series analysis
DOI: 10.1016/j.lanwpc.2025.1017282025
Journal article
DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
DOI: 10.1053/j.gastro.2024.12.0272025
Journal article
Intratumoural pks Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome
DOI: 10.1016/j.ebiom.2025.105661