A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

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Authors: C. Akimoto, A. E. Volk, M. van Blitterswijk, M. Van den Broeck, C. S. Leblond, S. Lumbroso, W. Camu, B. Neitzel, O. Onodera, W. van Rheenen, S. Pinto, M. Weber, B. Smith, M. Proven, K. Talbot, P. Keagle, A. Chesi, A. Ratti, J. van der Zee, H. Alstermark, A. Birve, D. Calini, A. Nordin, D. C. Tradowsky, W. Just, H. Daoud, S. Angerbauer, M. DeJesus-Hernandez, T. Konno, A. Lloyd-Jani, M. de Carvalho, K. Mouzat, J. E. Landers, J. H. Veldink, V. Silani, A. D. Gitler, C. E. Shaw, G. A. Rouleau, L. H. van den Berg, C. Van Broeckhoven, R. Rademakers, P. M. Andersen, C. Kubisch

Journal title: Journal of Medical Genetics

Journal number: 00222593

Journal publisher: British Medical Association

Published year: 2014

Published pages: 419-424

DOI identifier: 10.1136/jmedgenet-2014-102360

ISSN: 0022-2593