Area of research
Genetics · Physiology
Research interest
Research interests include Biology, Genome-wide association study, Phenome, COPD, Genetic association, and Atopic dermatitis.
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes
Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity