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Michael T Parsons
Michael T Parsons
在 qimrberghofer.edu.au 的电子邮件经过验证
标题
引用次数
引用次数
年份
Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women.
L Dorling, S Carvalho, J Allen, A González-Neira, C Luccarini, ...
The New England Journal of Medicine, 2021
7262021
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
3672012
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
H Zhang, TU Ahearn, J Lecarpentier, D Barnes, J Beesley, G Qi, X Jiang, ...
Nature genetics 52 (6), 572-581, 2020
3542020
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ...
Human mutation 39 (5), 593-620, 2018
3142018
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
2522014
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls
Y Momozawa, Y Iwasaki, MT Parsons, Y Kamatani, A Takahashi, ...
Nature communications 9 (1), 4083, 2018
2392018
BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
DM Eccles, G Mitchell, ANA Monteiro, R Schmutzler, FJ Couch, ...
Annals of oncology 26 (10), 2057-2065, 2015
2222015
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
MS Cline, RG Liao, MT Parsons, B Paten, F Alquaddoomi, A Antoniou, ...
PLoS genetics 14 (12), e1007752, 2018
2072018
Cancer risks associated with BRCA1 and BRCA2 pathogenic variants
S Li, V Silvestri, G Leslie, TR Rebbeck, SL Neuhausen, JL Hopper, ...
Journal of Clinical Oncology 40 (14), 1529, 2022
1822022
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
L Fachal, H Aschard, J Beesley, DR Barnes, J Allen, S Kar, KA Pooley, ...
Nature genetics 52 (1), 56-73, 2020
1722020
Refined histopathological predictors of BRCA1 and BRCA2mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and …
AB Spurdle, FJ Couch, MT Parsons, L McGuffog, D Barrowdale, MK Bolla, ...
Breast Cancer Research 16, 1-16, 2014
1352014
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
1322019
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
MA Ferreira, ER Gamazon, F Al-Ejeh, K Aittomäki, IL Andrulis, ...
Nature communications 10 (1), 1741, 2019
1322019
Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants
Y Momozawa, R Sasai, Y Usui, K Shiraishi, Y Iwasaki, Y Taniyama, ...
JAMA oncology 8 (6), 871-878, 2022
1302022
Shared heritability and functional enrichment across six solid cancers
X Jiang, HK Finucane, FR Schumacher, SL Schmit, JP Tyrer, Y Han, ...
Nature communications 10 (1), 431, 2019
1242019
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ...
Genetics in Medicine 22 (10), 1653-1666, 2020
1122020
Combined genetic and splicing analysis of BRCA1 c.[594-2A> C; 641A> G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant …
M de la Hoya, O Soukarieh, I López-Perolio, A Vega, LC Walker, ...
Human molecular genetics 25 (11), 2256-2268, 2016
992016
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
972013
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
R Leman, P Gaildrat, G Le Gac, C Ka, Y Fichou, MP Audrezet, ...
Nucleic acids research 46 (15), 7913-7923, 2018
912018
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ...
The American Journal of Human Genetics 110 (7), 1046-1067, 2023
702023
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