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Michael T. Parsons

QIMR Berghofer Medical Research Institute
H指数:43
被引数:7,387

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BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1-、BRCA2-和PALB2相关的范可尼贫血:扩展疾病表型特征并预测杂合子乳腺癌风险的潜力

2025-10-300
PRE
Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriers

亚洲BRCA1和BRCA2致病性变异携带者乳腺癌风险的polygenic risk score多基因风险评分

2025-09-300
OA
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres

在澳大利亚家族性癌症中心的国家级审查中确定的乳腺癌风险变异的不可识别的可操作性

2024-10-141
OAAI
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
2024-09-0112
OAAI
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset

乳腺癌易感基因种系致病变异的共同观察: BRIDGES测序数据集的分析结果

2024-09-013
PRE
Integration of functional data to classify BRCA1/2 missense variants: An ENIGMA project
2024-03-220
PRE
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
2024-01-090
OAAI
Differential DNA damage repair and PARP inhibitor vulnerability of the mammary epithelial lineages (vol 42, 113256, 2023)
2023-11-012
OAAI
Differential DNA damage repair and PARP inhibitor vulnerability of the mammary epithelial lineages
2023-10-011
OA
A Likelihood Ratio Approach for Utilizing Case-Control Data in the Clinical Classification of Rare Sequence Variants: Application to BRCA1 and BRCA2

在罕见序列变异的临床分类中利用病例对照数据的似然比方法: 在BRCA1和BRCA2中的应用

2023-09-141
OAAI
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
2023-07-0198
OAAI
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

致病性BRCA1/2变异对乳腺癌患者预后的预测效度

2023-05-123
OAAI
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
2022-11-2038
PRE
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

临床,剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用

2022-10-236
OAAI
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

拷贝数变异可作为BRCA1/BRCA2致病变异携带者乳腺癌风险的调节剂

2022-10-067
OAAI
Breast cancer risks associated with missense variants in breast cancer susceptibility genes

与乳腺癌易感基因错义变异相关的乳腺癌风险

2022-05-1826
OAAI