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 | 29 | 2021 |
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 | 24 | 2020 |
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 | 17 | 2021 |
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 | 16 | 2022 |
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 | 7 | 2023 |
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 | 7 | 2022 |
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 | 6 | 2023 |
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 | 5 | 2023 |
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 | 4 | 2023 |
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 | 1 | 2023 |
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 |