Robert J. Hopkin

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Michael F. Wangler, R. Pfundt, G. Cooper, 2018, Human Genetics.

Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology

Brittany N. Simpson, Robert J. Hopkin, Joshua W Owens, 2023, Annals of human genetics.