| 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 | 259 | 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 | 187 | 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), 1-8, 2017 | 53 | 2017 |
| Melbourne Genomics Health Alliance. 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, ... Genet Med 18 (11), 1090-1096, 2016 | 36 | 2016 |
| 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 | 29 | 2017 |
| 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 | 16 | 2019 |
| 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), 1-12, 2020 | 7 | 2020 |
| 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 | 7 | 2017 |
| 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 | 6 | 2020 |
| Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome P Georgeson, MD Walsh, M Clendenning, S Daneshvar, BJ Pope, ... Molecular genetics & genomic medicine 7 (7), e00781, 2019 | 6 | 2019 |
| 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, 2021 | 3 | 2021 |
| UNDR ROVER-a fast and accurate variant caller for targeted DNA sequencing DJ Park, R Li, E Lau, P Georgeson, T Nguyen-Dumont, BJ Pope BMC bioinformatics 17 (1), 1-7, 2016 | 3 | 2016 |
| sEst: accurate sex-estimation and abnormality detection in methylation microarray data CH Jung, DJ Park, P Georgeson, K Mahmood, RL Milne, MC Southey, ... International journal of molecular sciences 19 (10), 3172, 2018 | 2 | 2018 |
| 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 | 1 | 2021 |
| 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 | 1 | 2019 |
| Fine resolution mapping of double-strand break sites for human ribosomal DNA units BJ Pope, K Mahmood, C Jung, DJ Park Genomics data 10, 19-21, 2016 | 1 | 2016 |
| MSH2-deficient prostate tumours have a distinct immune response and clinical outcome compared to MSH2-deficient colorectal or endometrial cancer P McCoy, S Mangiola, G Macintyre, R Hutchinson, B Tran, B Pope, ... Prostate Cancer and Prostatic Diseases, 1-14, 2021 | | 2021 |
| 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 | | 2021 |
| Germline and Tumor Whole Genome Sequencing as a Diagnostic Tool to Resolve Suspected Lynch Syndrome BJ Pope, M Clendenning, C Rosty, K Mahmood, P Georgeson, JE Joo, ... medRxiv, 2020 | | 2020 |
| 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 |
