About the Authors

Petra Seemann, Anja Brehm, Jana König, Sigmar Stricker, Pia Kuss, Julia Haupt, Stephanie Renninger, Mareen Schmidt-von Kegler, Maria Walther, Stefan Mundlos
Research Group Development and Disease, Max-Planck-Institut für Molekulare Genetik, Berlin, Germany

Petra Seemann, Anja Brehm, Jana König, Julia Haupt, Stefan Mundlos
Berlin-Brandenburg Center for Regenerative Therapies, Charité – Universitätsmedizin Berlin, Berlin, Germany

Anja Brehm, Pia Kuss, Julia Haupt, Stephanie Renninger, Mareen Schmidt-von Kegler, Katarina Dathe, Stefan Mundlos
Institut für Medizinische Genetik, Charité – Universitätsmedizin Berlin, Berlin, Germany

Anja Brehm, Jana König, Pia Kuss, Julia Haupt
Freie Universität Berlin, Berlin, Germany

Carsten Reissner
Institute of Anatomy, Department of Anatomy and Molecular Neurobiology, Universitätsklinikum Münster, Münster, Germany

Joachim Nickel, Walter Sebald
Lehrstuhl für Physiologische Chemie II, Theodor-Boveri-Institut für Biowissenschaften (Biozentrum) der Universität Würzburg, Würzburg, Germany

Jay C. Groppe
Department of Biomedical Sciences, Baylor College of Dentistry, Texas A&M University System Health Science Center, Dallas, Texas, United States of America

Frank Plöger, Jens Pohl
Biopharm GmbH, Heidelberg, Germany

Ingmar Gassner
Department für Kinder- und Jugendheilkunde, Medizinische Universität Innsbruck, Innsbruck, Austria

Cristina Rusu
Medical Genetics Department, University of Medicine and Pharmacy, Iaşi, Romania

Andreas R. Janecke
Sektion für Klinische Genetik, Medizinische Universität Innsbruck, Innsbruck, Austria

Corresponding Author

petra.seemann@charite.de

Competing Interests

The Co-authors Jens Pohl and Frank Plöger are employees of the company Biopharm GmbH as indicated in the affiliation. Biopharm GmbH is a 100% privately owned company. The Co-authors Frank Plöger, Jens Pohl and Stefan Mundlos have filed a patent on the GDF5 variant N445T (US 2008/0260830A1).

Author Contributions

Conceived and designed the experiments: P Seemann, K Dathe, S Mundlos. Performed the experiments: P Seemann, A Brehm, J König, S Stricker, J Nickel, F Plöger, M Schmidt-von Kegler, M Walther. Analyzed the data: P Seemann, A Brehm, J König, C Reissner, J Haupt, J Nickel, W Sebald, JC Groppe, F Plöger, J Pohl, K Dathe. Contributed reagents/materials/analysis tools: P Seemann, C Reissner, W Sebald, F Plöger, J Pohl, I Gassner, C Rusu, AR Janecke, K Dathe, S Mundlos. Wrote the paper: P Seemann, S Mundlos.