Tomas F. Bergström

A nonsense mutation in the PRKG2 gene in Dalmatian dogs with chondrodysplasia

This study identifies a nonsense mutation in the PRKG2 gene as the cause of chondrodysplasia in Dalmatian dogs, resolving a long-standing genetic mystery.

A new long-read dog assembly uncovers thousands of exons and functional elements missing in the previous reference

The paper presents a new long-read dog genome assembly that reduces gaps and identifies thousands of previously hidden exons and functional elements.

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease

The paper identifies a loss-of-function mutation in the ABCA4 gene in Labrador retrievers with retinal degeneration, suggesting dogs as a model for human Stargardt disease.