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- 2024
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Mark
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
(
- Contribution to journal › Article
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Mark
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
(
- Contribution to journal › Article
- 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
- 2022
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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
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
(
- Contribution to journal › Article
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Mark
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
(
- Contribution to journal › Article
- 2017
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Mark
Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease
(
- Contribution to journal › Article
- 2013
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Mark
GNAL mutations cause adult-onset primary dystonia
(
- Contribution to journal › Published meeting abstract
- 2012
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Mark
Friedreich's ataxia in patients with FXN p.R165P point mutation
2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727(
- Contribution to journal › Published meeting abstract
- 2010
-
Mark
Profile of TP53 gene mutations in sinonasal cancer
(
- Contribution to journal › Article