| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification MT Parsons, E Tudini, H Li, E Hahnen, B Wappenschmidt, L Feliubadaló, ... Human mutation 40 (9), 1557-1578, 2019 | 121 | 2019 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in medicine 24 (1), 130-145, 2022 | 50 | 2022 |
| Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report AB Spurdle, S Greville-Heygate, AC Antoniou, M Brown, L Burke, ... Journal of medical genetics 56 (6), 347-357, 2019 | 39 | 2019 |
| The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity M Colombo, I Lòpez‐Perolio, HD Meeks, L Caleca, MT Parsons, H Li, ... Human mutation 39 (5), 729-741, 2018 | 24 | 2018 |
| BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding LJ Burke, J Sevcik, G Gambino, E Tudini, EJ Mucaki, BC Shirley, P Whiley, ... Human mutation 39 (12), 2025-2039, 2018 | 20 | 2018 |
| Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare Z Stark, T Boughtwood, M Haas, J Braithwaite, CL Gaff, I Goranitis, ... The American Journal of Human Genetics 110 (3), 419-426, 2023 | 15 | 2023 |
| Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, ... The American Journal of Human Genetics 109 (11), 1960-1973, 2022 | 9 | 2022 |
| Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes E Tudini, LJ Burke, PJ Whiley, J Sevcik, AB Spurdle, MA Brown Biotechniques 67 (3), 94-96, 2019 | 8 | 2019 |
| Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val) E Tudini, S Moghadasi, MT Parsons, L van der Kolk, ... Breast Cancer Research and Treatment 172, 497-503, 2018 | 8 | 2018 |
| Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility E Tudini, AL Davidson, U Dressel, L Andrews, Y Antill, A Crook, M Field, ... Journal of medical genetics 58 (12), 853-858, 2021 | 6 | 2021 |
| Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach M Thomassen, RLS Mesman, TVO Hansen, M Menendez, M Rossing, ... Human mutation 43 (12), 1921-1944, 2022 | 5 | 2022 |
| Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions AL Davidson, O Kondrashova, C Leonard, S Wood, E Tudini, GE Hollway, ... Human Mutation 43 (12), 2054-2062, 2022 | 4 | 2022 |
| Reporting clinically relevant genetic variants unrelated to genomic test requests: a survey of Australian clinical laboratory policies and practices E Tudini, MA Haas, T Mattiske, AB Spurdle Journal of Medical Genetics 60 (6), 609-614, 2023 | 3 | 2023 |
| Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype E Ip, C McNeil, P Grimison, T Scheinberg, E Tudini, G Ho, RJ Scott, ... Journal of Medical Genetics 59 (9), 912-915, 2022 | 3 | 2022 |
| Nationally accessible pathways to share RNA assay data for clinical diagnostics E Tudini, G Pendlebury, AB Spurdle Pathology 56, S21, 2024 | | 2024 |
| Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant I Block, À Mateu-Regué, TTN Do, I Miceikaite, D Sdogati, MJ Larsen, ... Breast Cancer Research 26 (1), 6, 2024 | | 2024 |
| Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel MT Parsons, M de la Hoya, ME Richardson, E Tudini, M Anderson, ... medRxiv, 2024.01. 22.24301588, 2024 | | 2024 |
| The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study AL Davidson, U Dressel, S Norris, DM Canson, DM Glubb, C Fortuno, ... Genome medicine 15 (1), 74, 2023 | | 2023 |
| Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of … AB Spurdle, A Drackley, A Ing, E Tudini, KL Yap, SV Tavtigian Genetics in Medicine 25 (8), 2023 | | 2023 |
| P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2 M Parsons, M Anderson, W Berkofsky-Fessler, S Caputo, R Chan, M Cline, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
