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Author

Romy Walker

Observed name: Walker, Romy
ORCID: 0000-0001-8948-8417
Observed ORCID: 0000-0001-8948-8417
OpenAlex ID: A5035808887
Intratumoral presence of the genotoxic gut bacteria pks+ E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer
2024 · Jihoon E. Joo, Yen Lin Chu, et al. · British Journal of Cancer · 78
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Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
2021 · Peter Georgeson, Bernard J. Pope, et al. · Gut · 52
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Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer
2020 · Fadwa A. Elsayed, Judith E. Grolleman, et al. · Gastroenterology · 35
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Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
2022 · Peter Georgeson, Tabitha A. Harrison, et al. · Nature Communications · 32
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Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival
2023 · Peter Georgeson, Robert S. Steinfelder, et al. · medRxiv · 25
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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers
2023 · Jihoon E. Joo, Khalid Mahmood, et al. · Clinical Epigenetics · 22
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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
2023 · Romy Walker, Khalid Mahmood, et al. · Journal of Translational Medicine · 22
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Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
2021 · James M. Chan, Mark Clendenning, et al. · Familial Cancer · 22
Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome
2020 · Bernard J. Pope, Mark Clendenning, et al. · Journal of Molecular Diagnostics · 22
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Intratumoural pks Escherichia coli is associated with risk of metachronous colorectal cancer and adenoma development in people with Lynch syndrome
2025 · Yen Lin Chu, Peter Georgeson, et al. · EBioMedicine · 14
Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status
2022 · Romy Walker, Peter Georgeson, et al. · Journal of Molecular Diagnostics · 14
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
2023 · James M. Chan, Mark Clendenning, et al. · Familial Cancer · 8
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A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
2023 · Romy Walker, Mark Clendenning, et al. · Familial Cancer · 8
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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
2025 · Romy Walker, Jihoon E. Joo, et al. · Translational Oncology · 7
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands
2023 · Romy Walker, Khalid Mahmood, et al. · Cancers · 6
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Causes of DNA mismatch repair deficiency in sebaceous skin lesions demonstrating loss of MLH1 protein expression: constitutional over somatic MLH1 promoter methylation
2025 · Jihoon E. Joo, Khalid Mahmood, et al. · Familial Cancer · 4
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DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers
2025 · Romy Walker, Jihoon E. Joo, et al. · Gastroenterology · 2
Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing
2026 · Jihoon E. Joo, Khalid Mahmood, et al. · Familial Cancer · 1
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Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers
2026 · Daniel D. Buchanan, Rocio Alvarez, et al. · Familial Cancer · 1
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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
2025 · Daniel D. Buchanan, Peter Georgeson, et al. · Familial Cancer · 1
Cancer Risks for First-Degree Relatives of People With Double Somatic DNA Mismatch Repair Mutations
2026 · Romy Walker, James G. Dowty, et al. · Gastroenterology
Abstract C014: Unexplained familial early-onset colorectal cancer: Determining a shared etiology by tumor mutational signature profiling
2025 · Alysha Prisc, Peter Georgeson, et al. · Clinical Cancer Research
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
2025 · Peter Georgeson, Alysha Prisc, et al. · Clinical Cancer Research
Abstract C020: Novel insights from the investigation of experimental mutational signatures in early-onset colorectal cancer and colonic polyps
2025 · Peter Georgeson, Alysha Prisc, et al. · Clinical Cancer Research
Abstract C021: Characterizing the clinicopathological, genomic and spatial transcriptomic features of colibactin-induced colorectal cancers
2025 · Peter Georgeson, Jihoon E. Joo, et al. · Clinical Cancer Research
Works count: 44
Citation count: 376
H-index: 11
I10-index: 11
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