Susanne Roosing

Benchmarking deep learning splice prediction tools using functional splice assays

Tabea Riepe, Mubeen Khan, Susanne Roosing, 2020, Human mutation.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Tommaso Mazza, Jessica Rosati, William B Dobyns, 2017, American journal of human genetics.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Caroline C W Klaver, Klaus Rohrschneider, Susanne Roosing, 2013, American journal of human genetics.

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome

Carsten Bergmann, Peter Nürnberg, Klaus Zerres, 2008, Human mutation.