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Lucy Loong

national disease registration service
H指数:11
被引数:372

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荣誉奖项

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Long-term health outcomes of bilateral salpingo-oophorectomy in BRCA1 and BRCA2 pathogenic variant carriers with personal history of breast cancer: a retrospective cohort study using linked electronic health records

BRCA1和BRCA2致病性变异携带者中,有乳腺癌病史者行双侧输卵管卵巢切除术的长期健康结局:一项基于关联电子健康记录的回顾性队列研究

2025-05-080
OA
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study

子宫内膜癌的Lynch综合征诊断测试途径: 一项基于全国英语注册的研究

2024-10-210
OAAI
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study
2024-05-014
OAAI
Second primary cancer risks following breast cancer in BRCA1/2 pathogenic variant carriers
2024-03-220
PRE
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
2023-12-221
OAAI
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study
2023-01-019
OAAI
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

来自英国NHS区域分子基因组学实验室的种系错配修复 (MMR) 基因分析1996-2020: 患者水平基因组学实验室记录的国家资源的开发

2022-12-267
OAAI
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2

英国关于癌症易感基因种系致病变异女性癌症风险临床管理的共识建议: RAD51C,RAD51D,BRIP1和PALB2

2022-11-2125
OAAI
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)
2022-09-0117
OAAI
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot

英国NHS癌症患者基因检测的数字途径: brca-direct随机研究内部试点

2022-07-2222
OAAI
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
2022-04-0114
OAAI
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
2022-03-016
OAAI
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice
2019-07-3146
OAAI