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Romy Walker
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Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers
P Georgeson, BJ Pope, C Rosty, M Clendenning, K Mahmood, JE Joo, ...
Gut 70 (11), 2138-2149, 2021
292021
Monoallelic NTHL1 loss-of-function variants and risk of polyposis and colorectal cancer
FA Elsayed, JE Grolleman, A Ragunathan, A Boot, MS Stojovska, ...
Gastroenterology 159 (6), 2241-2243. e6, 2020
242020
Germline and tumor sequencing as a diagnostic tool to resolve suspected Lynch syndrome
BJ Pope, M Clendenning, C Rosty, K Mahmood, P Georgeson, JE Joo, ...
The Journal of Molecular Diagnostics 23 (3), 358-371, 2021
172021
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
P Georgeson, TA Harrison, BJ Pope, SH Zaidi, C Qu, RS Steinfelder, ...
Nature communications 13 (1), 3254, 2022
162022
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
R Walker, K Mahmood, JE Joo, M Clendenning, P Georgeson, J Como, ...
Journal of Translational Medicine 21 (1), 282, 2023
72023
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer
JM Chan, M Clendenning, S Joseland, P Georgeson, K Mahmood, ...
Familial Cancer, 1-15, 2022
72022
Evaluating multiple next-generation sequencing–derived tumor features to accurately predict DNA mismatch repair status
R Walker, P Georgeson, K Mahmood, JE Joo, E Makalic, M Clendenning, ...
The Journal of Molecular Diagnostics 25 (2), 94-109, 2023
62023
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival
P Georgeson, RS Steinfelder, TA Harrison, BJ Pope, SH Zaidi, C Qu, ...
MedRxiv, 2023
52023
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report
R Walker, M Clendenning, JE Joo, J Xue, K Mahmood, P Georgeson, ...
Familial Cancer 22 (4), 423-428, 2023
42023
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide …
JE Joo, K Mahmood, R Walker, P Georgeson, I Candiloro, M Clendenning, ...
Clinical Epigenetics 15 (1), 95, 2023
12023
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family
JM Chan, M Clendenning, S Joseland, P Georgeson, K Mahmood, JE Joo, ...
Familial Cancer 23 (1), 9-21, 2024
2024
Intratumoral presence of the genotoxic gut bacteria pks+E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with …
JE Joo, YL Chu, P Georgeson, R Walker, K Mahmood, M Clendenning, ...
British Journal of Cancer, 1-13, 2024
2024
DNA mismatch repair gene variant classification: evaluating the utility of somatic mutations and mismatch repair deficient colonic crypts and endometrial glands
R Walker, K Mahmood, J Como, M Clendenning, JE Joo, P Georgeson, ...
Cancers 15 (20), 4925, 2023
2023
DNA mismatch repair gene variant classification: Evaluating detection of somatic mutations and mismatch repair deficient crypts/glands in colonic and endometrial tissue
R Walker, K Mahmood, J Como, M Clendenning, JE Joo, P Georgeson, ...
Journal of Gastroenterology and Hepatology 38, 27-28, 2023
2023
A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient with suspected Lynch syndrome: A case report
R Walker, M Clendenning, JE Joo, J Xue, K Mahmood, P Georgeson, ...
Journal of Gastroenterology and Hepatology 38, 29-29, 2023
2023
The impact of cause of mismatch repair deficiency and other molecular markers on clinical outcomes with the use of durvalumab in advanced endometrial cancer in the phase 2 …
DD Buchanan, K Mahmood, P Georgeson, R Walker, K Robledo, ...
Journal of Clinical Oncology 41 (16_suppl), 5604-5604, 2023
2023
The genomic and clinico-pathological characteristics of sebaceous skin lesions from people with Lynch syndrome
D Buchanan, K Mahmood, M Clendenning, A Le, J Joo, R Walker, ...
AUSTRALASIAN JOURNAL OF DERMATOLOGY 63, 32-32, 2022
2022
The Clinical Utility of Tumour Mutational Signatures for Identifying Hereditary Colorectal Cancer and Polyposis Syndromes
D Buchanan, P Georgeson, M Clendenning, K Mahmood, A Ragunathan, ...
JOURNAL OF MOLECULAR DIAGNOSTICS 21 (3), S2-S3, 2019
2019
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