| Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt, K Akagi, ... Nature genetics 46 (2), 107-115, 2014 | 508 | 2014 |
| Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for … MT Parsons, DD Buchanan, B Thompson, JP Young, AB Spurdle Journal of medical genetics 49 (3), 151-157, 2012 | 367 | 2012 |
| Tumor Mismatch Repair Immunohistochemistry and DNA MLH1 Methylation Testing of Patients With Endometrial Cancer Diagnosed at Age Younger Than 60 Years Optimizes Triage for … DD Buchanan, YY Tan, MD Walsh, M Clendenning, AM Metcalf, ... Journal of Clinical Oncology 32 (2), 90-100, 2014 | 252 | 2014 |
| The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome JP Plazzer, RH Sijmons, MO Woods, P Peltomäki, B Thompson, ... Familial cancer 12 (2), 175-180, 2013 | 157 | 2013 |
| BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk AB Spurdle, PJ Whiley, B Thompson, B Feng, S Healey, MA Brown, ... Journal of medical genetics 49 (8), 525-532, 2012 | 133 | 2012 |
| Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions BA Thompson, MS Greenblatt, MP Vallee, JC Herkert, C Tessereau, ... Human Mutation 34 (1), 255-265, 2013 | 117 | 2013 |
| A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the … BA Thompson, DE Goldgar, C Paterson, M Clendenning, R Walters, ... Human mutation 34 (1), 200-209, 2013 | 97 | 2013 |
| A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity J Shamsani, SH Kazakoff, IM Armean, W McLaren, MT Parsons, ... Bioinformatics 35 (13), 2315-2317, 2019 | 64 | 2019 |
| Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity LC Walker, PJ Whiley, FJ Couch, DJ Farrugia, S Healey, DM Eccles, F Lin, ... Human mutation 31 (6), E1484-E1505, 2010 | 64 | 2010 |
| Mutation deep within an intron of MSH2 causes Lynch syndrome M Clendenning, DD Buchanan, MD Walsh, B Nagler, C Rosty, ... Familial cancer 10 (2), 297-301, 2011 | 61 | 2011 |
| 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 | 59 | 2022 |
| Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution Z Stark, RE Foulger, E Williams, BA Thompson, C Patel, S Lunke, C Snow, ... The American Journal of Human Genetics 108 (9), 1551-1557, 2021 | 57 | 2021 |
| A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome M Drost, Y Tiersma, BA Thompson, JH Frederiksen, G Keijzers, D Glubb, ... Genetics in Medicine 21 (7), 1486-1496, 2019 | 53 | 2019 |
| Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from … PJ Whiley, L Guidugli, LC Walker, S Healey, BA Thompson, SR Lakhani, ... Human mutation 32 (6), 678-687, 2011 | 53 | 2011 |
| Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization KJ der Velde, J Kuiper, BA Thompson, JP Plazzer, G Valkenhoef, M Haan, ... Human Mutation, 2015 | 50 | 2015 |
| Pancreatic cancer as a sentinel for hereditary cancer predisposition EL Young, BA Thompson, DW Neklason, MA Firpo, T Werner, R Bell, ... BMC cancer 18 (1), 1-9, 2018 | 40 | 2018 |
| Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis GM Vargas‐Parra, M González‐Acosta, BA Thompson, C Gómez, ... International journal of cancer 141 (7), 1365-1380, 2017 | 33 | 2017 |
| Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants R Tricarico, M Kasela, C Mareni, BA Thompson, A Drouet, L Staderini, ... Human mutation 38 (1), 64-77, 2017 | 33 | 2017 |
| A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays BA Thompson, A Martins, AB Spurdle Clinical genetics 87 (2), 100-108, 2015 | 33 | 2015 |
| Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review S Peters, BA Thompson, M Perrin, P James, D Zentner, JM Kalman, ... Circulation: Genomic and Precision Medicine 15 (1), e003432, 2022 | 24 | 2022 |
Amanda SpurdleQIMR Berghofer Medical Research Institute在 qimr.edu.au 的电子邮件经过验证
