| 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 | 213 | 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 | 151 | 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 | 46 | 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 | 29 | 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 | 22 | 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 | 7 | 2019 |
| 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 | 4 | 2017 |
| 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), 165, 2016 | 3 | 2016 |
| 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 | 1 | 2020 |
| 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 |
| 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 | 1 | 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, R Walker, K Mahmood, ... medRxiv, 2019 | 1 | 2019 |
| 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 | 1 | 2018 |
| 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 |
| 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 |
| Sebaceous skin lesions and Lynch Syndrome, a definitive study D Buchanan, M Walsh, M Clendenning, K Mahmood, P Georgeson, ... AUSTRALASIAN JOURNAL OF DERMATOLOGY 60, 9-9, 2019 | | 2019 |
| Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells BJ Pope, K Mahmood, C Jung, P Georgeson, DJ Park Genomics data 11, 43-45, 2017 | | 2017 |
