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

C. Akimoto; A. Volk; M.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

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

C. Akimoto
, A. Volk
, M.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

Cultural History

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	419-424
Number of pages	6
Journal	Journal of Medical Genetics
Volume	51
Issue number	6
Publication status	Published - 2014

Keywords

Econometric and Statistical Methods: General
Geneeskunde (GENK)
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/24706941

Cite this

Akimoto, C., Volk, A., van Blitterswijk, M. M., van den Broeck, M., Leblond, C. S., Lumbroso, S., Camu, W., Neitzel, B., Onodera, O., van Rheenen, W., Pinto, S., Weber, M., Smith, B., Proven, M., Talbot, K., Keagle, P., Chesi, A., Ratti, A., van der Zee, J., ... Kubisch, C. (2014). A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Journal of Medical Genetics, 51(6), 419-424. http://www.ncbi.nlm.nih.gov/pubmed/24706941

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

keywords = "Econometric and Statistical Methods: General, Geneeskunde (GENK), Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

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

year = "2014",

language = "Undefined/Unknown",

volume = "51",

pages = "419--424",

journal = "Journal of Medical Genetics",

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Akimoto, C, Volk, A, van Blitterswijk, MM, van den Broeck, M, Leblond, CS, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, DC, Just, W, Daoud, H, Angerbauer, S, Dejesus-Hernandez, M, Konno, T, Lloyd-Jani, A, de Carvalho, M, Mouzat, K, Landers, JE, Veldink, JH, Silani, V, Gitler, AD, Shaw, CE, Rouleau, GA, van den Berg, LH, van Broeckhoven, C, Rademakers, R, Andersen, PM & Kubisch, C 2014, 'A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories', Journal of Medical Genetics, vol. 51, no. 6, pp. 419-424. <http://www.ncbi.nlm.nih.gov/pubmed/24706941>

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. / Akimoto, C.; Volk, A.; van Blitterswijk, M.M. et al.
In: Journal of Medical Genetics, Vol. 51, No. 6, 2014, p. 419-424.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

AU - Akimoto, C.

AU - Volk, A.

AU - van Blitterswijk, M.M.

AU - van den Broeck, M.

AU - Leblond, C.S.

AU - Lumbroso, S.

AU - Camu, W.

AU - Neitzel, B.

AU - Onodera, O.

AU - van Rheenen, W.

AU - Pinto, S.

AU - Weber, M

AU - Smith, B.

AU - Proven, M.

AU - Talbot, K.

AU - Keagle, P.

AU - Chesi, A.

AU - Ratti, A.

AU - van der Zee, J.

AU - Alstermark, H.

AU - Birve, A.

AU - Calini, D.

AU - Nordin, A.

AU - Tradowsky, D.C.

AU - Just, W.

AU - Daoud, H.

AU - Angerbauer, S.

AU - Dejesus-Hernandez, M.

AU - Konno, T.

AU - Lloyd-Jani, A.

AU - de Carvalho, M.

AU - Mouzat, K.

AU - Landers, J.E.

AU - Veldink, J.H.

AU - Silani, V.

AU - Gitler, A.D.

AU - Shaw, C.E.

AU - Rouleau, G.A.

AU - van den Berg, L.H.

AU - van Broeckhoven, C.

AU - Rademakers, R.

AU - Andersen, P.M.

AU - Kubisch, C.

PY - 2014

Y1 - 2014

KW - Econometric and Statistical Methods: General

KW - Geneeskunde (GENK)

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

M3 - Article

SN - 0022-2593

VL - 51

SP - 419

EP - 424

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -