selected publications
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academic article
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Genes.
8.
2017
ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Human Mutation.
37.
2016
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
American Journal of Human Genetics.
99.
2016
Meta-analysis of genome-wide association studies of HDL cholesterol response to statins.
Journal of Medical Genetics.
53.
2016
A global reference for human genetic variation.
Nature.
526.
2015
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Nature.
518.
2015
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.
American Journal of Human Genetics.
94.
2014