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- 2022
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Mark
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells
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- Contribution to journal › Article
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
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- Contribution to journal › Article
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Mark
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
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- Contribution to journal › Article
- 2021
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Mark
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
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- Contribution to journal › Article
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Mark
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
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- Contribution to journal › Article
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Mark
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
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- Contribution to journal › Article
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Mark
Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction
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- Contribution to journal › Article
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Mark
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk
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- Contribution to journal › Article
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Mark
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
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- Contribution to journal › Article
- 2020
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Mark
Copy number variants (CNVs) : a powerful tool for iPSC-based modelling of ASD
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- Contribution to journal › Scientific review