Tobias Eisenberger

Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

Tobias Eisenberger, Christine Neuhaus, Arif O. Khan et al. · PLoS ONE · 2013 · 225 citations · Full text

Cnv Analysis, Genetics, Genetic Epidemiology +17

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

Johannes Birtel, Tobias Eisenberger, Martin Gliem et al. · Scientific Reports · 2018 · 205 citations · Full text

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Sylvia Hoff, Jan Halbritter, Daniel Epting et al. · Nature Genetics · 2013 · 198 citations · Full text

Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger et al. · Human Mutation · 2013 · 137 citations · Full text

Skeletal Ciliopathies, Genetics, Pathology +17

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Valeska Frank, Sandra Habbig, Malte P. Bartram et al. · Human Molecular Genetics · 2013 · 100 citations · Full text

Enlarged Cystic Kidneys, Engineering, C-myc Expression +20