New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

by Konstantinos Kolokotronis, Natalie Pluta, Eva Klopocki, Erdmute Kunstmann, Daniel Messroghli, Christoph Maack, Shai Tejman-Yarden, Michael Arad, Simone Rost, Brenda Gerull
Published 2020-07-01

Rare copy number variants are a common cause of short stature.

by Diana Zahnleiter, Steffen Uebe, Arif B Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T Thiel
Published 2013-01-01

Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder

by Oliver Andres, Eva-Maria König, Karina Althaus, Tamam Bakchoul, Peter Bugert, Stefan Eber, Ralf Knöfler, Erdmute Kunstmann, Georgi Manukjan, Oliver Meyer, Gabriele Strauß, Werner Streif, Thomas Thiele, Verena Wiegering, Eva Klopocki, Harald Schulze
Published 2018-10-01

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

by Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Published 2016-01-01