Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Emma M. Wade; Philip B. Daniel; Zandra A. Jenkins; Aideen McInerney-Leo; Paul Leo; Tim Morgan; Marie Claude Addor; Lesley C. Adès; Debora Bertola; Axel Bohring; Erin Carter; Tae Joon Cho; Hans Christoph Duba; Elaine Fletcher; Chong A. Kim; Deborah Krakow; Eva Morava; Teresa Neuhann; Andrea Superti-Furga; Irma Veenstra-Knol; Dagmar Wieczorek; Louise C. Wilson; Raoul C.M. Hennekam; Andrew J. Sutherland-Smith; Tim M. Strom; Andrew O.M. Wilkie; Matthew A. Brown; Emma L. Duncan; David M. Markie; Stephen P. Robertson

doi:10.1016/j.ajhg.2016.05.024

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Emma M. Wade
, Philip B. Daniel
, Zandra A. Jenkins
, Aideen McInerney-Leo
, Paul Leo
, Tim Morgan
, Marie Claude Addor
, Lesley C. Adès
, Debora Bertola
, Axel Bohring
, Erin Carter
, Tae Joon Cho
, Hans Christoph Duba
, Elaine Fletcher
, Chong A. Kim
, Deborah Krakow
, Eva Morava
, Teresa Neuhann
, Andrea Superti-Furga
, Irma Veenstra-Knol

Dagmar Wieczorek, Louise C. Wilson, Raoul C.M. Hennekam, Andrew J. Sutherland-Smith, Tim M. Strom, Andrew O.M. Wilkie, Matthew A. Brown, Emma L. Duncan, David M. Markie, Stephen P. Robertson^*

^*Corresponding author for this work

Institute of Medical Genetics

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

Original language	English
Pages (from-to)	392-406
Number of pages	15
Journal	American Journal of Human Genetics
Volume	99
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2016.05.024
Publication status	Published - 04 Aug 2016

Fields of science

301301 Human genetics
302013 Medical diagnostics
301307 Cytogenetics
301306 Medical molecular biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ajhg.2016.05.024

Cite this

Wade, E. M., Daniel, P. B., Jenkins, Z. A., McInerney-Leo, A., Leo, P., Morgan, T., Addor, M. C., Adès, L. C., Bertola, D., Bohring, A., Carter, E., Cho, T. J., Duba, H. C., Fletcher, E., Kim, C. A., Krakow, D., Morava, E., Neuhann, T., Superti-Furga, A., ... Robertson, S. P. (2016). Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. American Journal of Human Genetics, 99(2), 392-406. https://doi.org/10.1016/j.ajhg.2016.05.024

@article{0d3e8288eecf48be857288bf3540c0bc,

title = "Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia",

author = "Wade, \{Emma M.\} and Daniel, \{Philip B.\} and Jenkins, \{Zandra A.\} and Aideen McInerney-Leo and Paul Leo and Tim Morgan and Addor, \{Marie Claude\} and Ad{\`e}s, \{Lesley C.\} and Debora Bertola and Axel Bohring and Erin Carter and Cho, \{Tae Joon\} and Duba, \{Hans Christoph\} and Elaine Fletcher and Kim, \{Chong A.\} and Deborah Krakow and Eva Morava and Teresa Neuhann and Andrea Superti-Furga and Irma Veenstra-Knol and Dagmar Wieczorek and Wilson, \{Louise C.\} and Hennekam, \{Raoul C.M.\} and Sutherland-Smith, \{Andrew J.\} and Strom, \{Tim M.\} and Wilkie, \{Andrew O.M.\} and Brown, \{Matthew A.\} and Duncan, \{Emma L.\} and Markie, \{David M.\} and Robertson, \{Stephen P.\}",

note = "Publisher Copyright: {\textcopyright} 2016 American Society of Human Genetics",

year = "2016",

month = aug,

day = "4",

doi = "10.1016/j.ajhg.2016.05.024",

language = "English",

volume = "99",

pages = "392--406",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

number = "2",

}

Wade, EM, Daniel, PB, Jenkins, ZA, McInerney-Leo, A, Leo, P, Morgan, T, Addor, MC, Adès, LC, Bertola, D, Bohring, A, Carter, E, Cho, TJ, Duba, HC, Fletcher, E, Kim, CA, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, LC, Hennekam, RCM, Sutherland-Smith, AJ, Strom, TM, Wilkie, AOM, Brown, MA, Duncan, EL, Markie, DM & Robertson, SP 2016, 'Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia', American Journal of Human Genetics, vol. 99, no. 2, pp. 392-406. https://doi.org/10.1016/j.ajhg.2016.05.024

TY - JOUR

T1 - Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

AU - Wade, Emma M.

AU - Daniel, Philip B.

AU - Jenkins, Zandra A.

AU - McInerney-Leo, Aideen

AU - Leo, Paul

AU - Morgan, Tim

AU - Addor, Marie Claude

AU - Adès, Lesley C.

AU - Bertola, Debora

AU - Bohring, Axel

AU - Carter, Erin

AU - Cho, Tae Joon

AU - Duba, Hans Christoph

AU - Fletcher, Elaine

AU - Kim, Chong A.

AU - Krakow, Deborah

AU - Morava, Eva

AU - Neuhann, Teresa

AU - Superti-Furga, Andrea

AU - Veenstra-Knol, Irma

AU - Wieczorek, Dagmar

AU - Wilson, Louise C.

AU - Hennekam, Raoul C.M.

AU - Sutherland-Smith, Andrew J.

AU - Strom, Tim M.

AU - Wilkie, Andrew O.M.

AU - Brown, Matthew A.

AU - Duncan, Emma L.

AU - Markie, David M.

AU - Robertson, Stephen P.

PY - 2016/8/4

Y1 - 2016/8/4

UR - https://www.scopus.com/pages/publications/84978880739

U2 - 10.1016/j.ajhg.2016.05.024

DO - 10.1016/j.ajhg.2016.05.024

M3 - Article

C2 - 27426733

AN - SCOPUS:84978880739

SN - 0002-9297

VL - 99

SP - 392

EP - 406

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

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