Area of research
Genetics · Epidemiology
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Liver Disease Diagnosis and Treatment, and Muscle Physiology and Disorders.
Genetic basis of early onset and progression of type 2 diabetes in South Asians
Genetic architecture of routinely acquired blood tests in a British South Asian cohort
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies
Deciphering the Mechanisms of Developmental Disorders (DMDD): a new programme for phenotyping embryonic lethal mice
Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures