Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Lisenka E. L. M. Vissers; Monica Bonetti; Jeroen Paardekooper Overman; Willy M. Nillesen; Suzanna G. M. Frints; Joep de Ligt; Giuseppe Zampino; Ana Justino; Jose C. Machado; Marga Schepens; Han G. Brunner; Joris A. Veltman; Hans Scheffer; Piet Gros; Jose L. Costa; Marco Tartaglia; Ineke van der Burgt; Helger G. Yntema; Jeroen den Hertog

doi:10.1038/ejhg.2014.115

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Lisenka E. L. M. Vissers, Monica Bonetti, Jeroen Paardekooper Overman, Willy M. Nillesen, Suzanna G. M. Frints, Joep de Ligt, Giuseppe Zampino, Ana Justino, Jose C. Machado, Marga Schepens, Han G. Brunner, Joris A. Veltman, Hans Scheffer, Piet Gros, Jose L. Costa, Marco Tartaglia, Ineke van der Burgt, Helger G. Yntema, Jeroen den Hertog

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

14 Citations (Scopus)

Original language	English
Pages (from-to)	317-324
Journal	European Journal of Human Genetics
Volume	23
Issue number	3
DOIs	https://doi.org/10.1038/ejhg.2014.115
Publication status	Published - Mar 2015

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10.1038/ejhg.2014.115

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Vissers, L. E. L. M., Bonetti, M., Overman, J. P., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., Brunner, H. G., Veltman, J. A., Scheffer, H., Gros, P., Costa, J. L., Tartaglia, M., van der Burgt, I., Yntema, H. G., & den Hertog, J. (2015). Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. European Journal of Human Genetics, 23(3), 317-324. https://doi.org/10.1038/ejhg.2014.115

Vissers, Lisenka E. L. M. ; Bonetti, Monica ; Overman, Jeroen Paardekooper ; Nillesen, Willy M. ; Frints, Suzanna G. M. ; de Ligt, Joep ; Zampino, Giuseppe ; Justino, Ana ; Machado, Jose C. ; Schepens, Marga ; Brunner, Han G. ; Veltman, Joris A. ; Scheffer, Hans ; Gros, Piet ; Costa, Jose L. ; Tartaglia, Marco ; van der Burgt, Ineke ; Yntema, Helger G. ; den Hertog, Jeroen. / Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. In: European Journal of Human Genetics. 2015 ; Vol. 23, No. 3. pp. 317-324.

@article{ea4cf9353d484182ad16e78f7ed43d90,

title = "Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome",

author = "Vissers, {Lisenka E. L. M.} and Monica Bonetti and Overman, {Jeroen Paardekooper} and Nillesen, {Willy M.} and Frints, {Suzanna G. M.} and {de Ligt}, Joep and Giuseppe Zampino and Ana Justino and Machado, {Jose C.} and Marga Schepens and Brunner, {Han G.} and Veltman, {Joris A.} and Hans Scheffer and Piet Gros and Costa, {Jose L.} and Marco Tartaglia and {van der Burgt}, Ineke and Yntema, {Helger G.} and {den Hertog}, Jeroen",

year = "2015",

month = mar,

doi = "10.1038/ejhg.2014.115",

language = "English",

volume = "23",

pages = "317--324",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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Vissers, LELM, Bonetti, M, Overman, JP, Nillesen, WM, Frints, SGM, de Ligt, J, Zampino, G, Justino, A, Machado, JC, Schepens, M, Brunner, HG, Veltman, JA, Scheffer, H, Gros, P, Costa, JL, Tartaglia, M, van der Burgt, I, Yntema, HG & den Hertog, J 2015, 'Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome', European Journal of Human Genetics, vol. 23, no. 3, pp. 317-324. https://doi.org/10.1038/ejhg.2014.115

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. / Vissers, Lisenka E. L. M.; Bonetti, Monica; Overman, Jeroen Paardekooper; Nillesen, Willy M.; Frints, Suzanna G. M.; de Ligt, Joep; Zampino, Giuseppe; Justino, Ana; Machado, Jose C.; Schepens, Marga; Brunner, Han G.; Veltman, Joris A.; Scheffer, Hans; Gros, Piet; Costa, Jose L.; Tartaglia, Marco; van der Burgt, Ineke; Yntema, Helger G.; den Hertog, Jeroen.

In: European Journal of Human Genetics, Vol. 23, No. 3, 03.2015, p. 317-324.

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

TY - JOUR

T1 - Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

AU - Vissers, Lisenka E. L. M.

AU - Bonetti, Monica

AU - Overman, Jeroen Paardekooper

AU - Nillesen, Willy M.

AU - Frints, Suzanna G. M.

AU - de Ligt, Joep

AU - Zampino, Giuseppe

AU - Justino, Ana

AU - Machado, Jose C.

AU - Schepens, Marga

AU - Brunner, Han G.

AU - Veltman, Joris A.

AU - Scheffer, Hans

AU - Gros, Piet

AU - Costa, Jose L.

AU - Tartaglia, Marco

AU - van der Burgt, Ineke

AU - Yntema, Helger G.

AU - den Hertog, Jeroen

PY - 2015/3

Y1 - 2015/3

U2 - 10.1038/ejhg.2014.115

DO - 10.1038/ejhg.2014.115

M3 - Article

VL - 23

SP - 317

EP - 324

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 3

ER -