Concepedia

Elke Botzenhart

EB

Statistics

Publications

10

Citations

845

H-Index

10

Active since

2002

Affiliations

University of Freiburg(Current)

University of Lübeck

Royal Children's Hospital

RWTH Aachen University

Institute of Human Genetics

Elke Botzenhart is an author at University of Freiburg specializing in genetics, molecular genetics, and genetic disorders.

Publications per year

2002–2018

10

Publications

10

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 · 229 citations · Full text

, , +17

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

Shireen R. Lamandé, Yuan Yuan, Irma Gresshoff et al. · Nature Genetics · 2011 · 156 citations · Full text

, , +9

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 · 108 citations · Full text

, , +17

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 · 69 citations

, , +13

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

Elke Botzenhart, Udo Vester, Christa Schmidt et al. · Kidney International · 2002 · 65 citations · Full text

, , +10

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