Rare and low-frequency coding variants alter human adult height

• Molecular characterization of the craniosynostosis‐associated interleukin‐11 receptor variants p.T306_S308dup and p.E364_V368del

  2023 FEBS Journal article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access

  14

  citations
• Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization

  2023 Wellcome Open Research article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  7

  citations
• A saturated map of common genetic variants associated with human height

  2022 Nature article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  833

  citations
• A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

  2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  18

  citations
• Can biomarkers be used to improve diagnosis and prediction of metabolic syndrome in childhood cancer survivors? A systematic review

  2021 Obesity Reviews review Medicine Adipokines, Inflammation, and Metabolic Diseases Open access

  22

  citations
• Growth failure: ‘idiopathic’ only after a detailed diagnostic evaluation

  2021 Endocrine Connections article Medicine Growth Hormone and Insulin-like Growth Factors Open access

  33

  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
• Disorders of IGFs and IGF-1R signaling pathways

  2020 Molecular and Cellular Endocrinology article Medicine Growth Hormone and Insulin-like Growth Factors Open access

  151

  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

9 results