Elke Botzenhart

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

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Shireen R. Lamandé, Yuan Yuan, Irma Gresshoff et al. · Nature Genetics · 2011 · 153 citations

Genetics, Pathology, Inherited Arthropathy +3

Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience

Rouven Hoefflin, Anna-Lena Geißler, Ralph Fritsch et al. · JCO Precision Oncology · 2018 · 104 citations · Full text

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke Botzenhart, Andrew Green, Helena G. Ilyina et al. · Human Mutation · 2005 · 68 citations

Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

Elke Botzenhart · Kidney International · 2002 · 62 citations

Genetic Disorder, Genetics, Genetic Epidemiology +6