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- 2023
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Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- Contribution to journal › Article
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Mark
A large meta-analysis identifies genes associated with anterior uveitis
(
- Contribution to journal › Article
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Mark
The role of fibrinolysis in vascular diseases in UK biobank
(
- Contribution to journal › Letter
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Mark
Contribution of rare and common coding variants to haematological malignancies in the UK biobank
(
- Contribution to journal › Article
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Mark
Rare-variant collapsing analyses reveal novel risk genes for arterial and venous cardiovascular diseases in the UK biobank
(
- Contribution to journal › Letter
- 2022
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Mark
Scarf enables a highly memory-efficient analysis of large-scale single-cell genomics data
(
- Contribution to journal › Article
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Mark
Genetic variation of the blood coagulation regulator tissue factor pathway inhibitor and venous thromboembolism among middle-aged and older adults: A population-based cohort study
(
- Contribution to journal › Letter
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Mark
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
(
- Contribution to journal › Article
- 2021
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Mark
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
(
- Contribution to journal › Article
- 2020
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Mark
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
(
- Contribution to journal › Article