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Andreas Rump

University of Pennsylvania
H指数:37
被引数:3.2万

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Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers
2022-11-0128
OA
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

多基因风险评分表明女性BRCA1/2致病变异携带者乳腺癌发病的极端年龄

2022-06-277
OAAI
Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

全面的基因组和转录组学分析可指导罕见癌症患者的治疗决策

2021-06-10150
OA
Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers
2020-12-2919
OA
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA1和BRCA2变异的大规模多因素可能性定量分析: 支持临床变异分类的ENIGMA资源

2019-09-01102
OAAI
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia (vol 9, 4250, 2018)
2018-11-190
OAAI
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly
2018-11-0196
OAAI
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
2018-10-1242
OAAI
Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1
2018-02-0119
OA
Identification of patients at risk for tumor predisposition syndromes based on the evaluation of sporadic cancer exome sequencing data: experiences from the NCT/DKTK MASTER program
2017-07-010
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