Area of research
Genetics · Plant Science
Research interest
Research interests include Genetic Mapping and Diversity in Plants and Animals, Genomics and Rare Diseases, Genetic Associations and Epidemiology, and Genetic and phenotypic traits in livestock.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
Whole-genome sequence-based analysis of thyroid function
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Synaptic, transcriptional and chromatin genes disrupted in autism
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans