Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

• Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression

  2025 Orphanet Journal of Rare Diseases article Medicine Inflammatory Myopathies and Dermatomyositis Open access

  3

  citations
• Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  1

  citations
• Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression

  2024 Research Square preprint Medicine Inflammatory Myopathies and Dermatomyositis Open access

  0

  citations
• Permutation-based true discovery guarantee by sum tests

  2023 Journal of the Royal Statistical Society Series B (Statistical Methodology) article Mathematics Statistical Methods in Clinical Trials Open access

  13

  citations
• Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers

  2023 Journal of Cardiovascular Translational Research article Medicine Cardiac electrophysiology and arrhythmias Open access

  6

  citations
• Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials

  2022 The Lancet Diabetes & Endocrinology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  129

  citations
• A Regression Perspective on Generalized Distance Covariance and the Hilbert–Schmidt Independence Criterion

  2022 Statistical Science article Mathematics Statistical Methods and Inference

  16

  citations
• Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

  2022 Nature Communications article Medicine Cardiac electrophysiology and arrhythmias Open access

  53

  citations
• Pharmacogenomics of GLP-1 Receptor Agonists: A genome wide analysis of observational data and large randomized controlled trials

  2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  8

  citations
• Genetic analyses of the QT interval and its components in over 250K individuals identifies new loci and pathways affecting ventricular depolarization and repolarization

  2021 medRxiv preprint Medicine Cardiac electrophysiology and arrhythmias Open access

  1

  citations
• Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis

  2021 PLoS ONE article Medicine Blood Coagulation and Thrombosis Mechanisms Open access

  11

  citations
• Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

  2020 Nature Genetics review Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access cited by 2 patents

  248

  citations
• Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

  2020 Diabetes article Neuroscience Regulation of Appetite and Obesity Open access

  57

  citations
• Comments on: Hierarchical inference for genome-wide association studies by Jelle J. Goeman and Stefan Böhringer

  2020 Computational Statistics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  2

  citations
• TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

  2020 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent

  43

  citations

15 results