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Siddhartha Yadav

Mayo Clinic
H指数:38
被引数:4,582

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Combining multiplexed assays of variant effect for enhanced BRCA2 variant classification

结合变异效应的多重检测方法以增强BRCA2变异分类

2026-04-090
OAAI
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

398,238名女性的全基因组关联研究揭示了七个与高级别浆液性卵巢癌相关的位点

2025-11-200
OAAI
Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer

大规模元分析和精确功能测定识别出FANCM区域,其中致病性体细胞突变(PTVs)对ER阴性和三阴性乳腺癌产生不同的风险。

2025-10-300
OAAI
ECPPF stratification identifies occult high-risk subgroups in stage I, grade 1 or 2, ≤50 % invasive endometrial cancer: Candidates for adjuvant therapy

ECPPF分层识别出在I期、1级或2级、≤50%浸润性的子宫内膜癌中隐藏的高危亚组:辅助治疗的候选者

2025-05-010
PRE
Interactions between genetic and epidemiological factors influencing mammographic density

遗传和流行病学因素对乳腺密度的影响相互作用

2025-03-270
OA
Development of a Breast Cancer Risk Prediction Model Integrating Monogenic, Polygenic, and Epidemiologic Risk

开发整合单基因,多基因和流行病学风险的乳腺癌风险预测模型

2024-09-110
PRE
Discordance in Recommendation Between Next-Generation Sequencing Test Reports and Molecular Tumor Boards in India
2024-03-010
OAAI
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain
2024-03-013
OAAI
Functional and clinical characterization of hypomorphic missense variants in the BRCA2 cancer predisposition gene
2024-02-010
PRE
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023-07-1311
OAAI
Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

意义不确定的变体的功能和临床表征确定了RAD51C中失活错义变体的热点

2023-05-302
OAAI