| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genetics in medicine 18 (11), 1090-1096, 2016 | 408 | 2016 |
| Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ... JAMA pediatrics 171 (9), 855-862, 2017 | 320 | 2017 |
| Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics K Mahmood, C Jung, G Philip, P Georgeson, J Chung, BJ Pope, DJ Park Human genomics 11, 1-8, 2017 | 92 | 2017 |
| Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival SH Zaidi, TA Harrison, AI Phipps, R Steinfelder, QM Trinh, C Qu, ... Nature communications 11 (1), 3644, 2020 | 63 | 2020 |
| Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy M Walsh, KM Bell, B Chong, E Creed, GR Brett, K Pope, NP Thorne, ... Annals of clinical and translational neurology 4 (5), 318-325, 2017 | 45 | 2017 |
| Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome … RP Baptista, Y Li, A Sateriale, MJ Sanders, KL Brooks, A Tracey, ... Genome Research 32 (1), 203-213, 2022 | 36 | 2022 |
| 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 | 33 | 2021 |
| Oncomicrobial community profiling identifies clinicomolecular and prognostic subtypes of colorectal cancer D Mouradov, P Greenfield, S Li, EJ In, C Storey, A Sakthianandeswaren, ... Gastroenterology 165 (1), 104-120, 2023 | 30 | 2023 |
| Annotation of the Giardia proteome through structure-based homology and machine learning BRE Ansell, BJ Pope, P Georgeson, SJ Emery-Corbin, AR Jex GigaScience 8 (1), giy150, 2019 | 26 | 2019 |
| 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 | 25 | 2020 |
| DNA methylation signatures and the contribution of age-associated methylomic drift to carcinogenesis in early-onset colorectal cancer JE Joo, M Clendenning, EM Wong, C Rosty, K Mahmood, P Georgeson, ... Cancers 13 (11), 2589, 2021 | 23 | 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 | 19 | 2022 |
| 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 | 19 | 2021 |
| Melbourne genomics health alliance null, Gaff C, white Sm. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic … Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genet Med 18, 1090-6, 2016 | 19 | 2016 |
| An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX T Mattiske, C Moey, LE Vissers, N Thorne, P Georgeson, M Bakshi, ... Human Mutation 38 (5), 548-555, 2017 | 18 | 2017 |
| Body mass index and molecular subtypes of colorectal cancer N Murphy, CC Newton, M Song, N Papadimitriou, M Hoffmeister, ... JNCI: Journal of the National Cancer Institute 115 (2), 165-173, 2023 | 17 | 2023 |
| Bionitio: demonstrating and facilitating best practices for bioinformatics command-line software P Georgeson, A Syme, C Sloggett, J Chung, H Dashnow, M Milton, ... GigaScience 8 (9), giz109, 2019 | 17 | 2019 |
| 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 | 10 | 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 | 10 | 2022 |
| 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 | 9 | 2023 |
Bernard PopeThe University of MelbourneVerified email at unimelb.edu.au
