De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

G.M. Mirzaa; D.A. Parry; A.E. Fry; K.A. Giamanco; J. Schwartztruber; M. Vanstone; C.V. Logan; N.Y. Roberts; C.A. Johnson; S. Kulyadi; S.S. Kholmanskikh; C. Adams; R.D. Hodge; R.F. Hevner; D.T. Bonthron; K.P.J. Braun; L. Faivre; J.B. Riviere; J. St-Onge; K.W. Gripp; G.M. Mancini; K.M. Pang; E. Sweeney; H. van der Esch; N.E. Verbeek; D. Wieczorek; M. Steinraths; I.J. Majewski; x. FORGE Canada Consortium; X et al; K.M. Boycott; D.T. Pilz; M. Ross; W.B. Dobyns; E.G. Sheridan

doi:10.1038/ng.2948

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Translated title of the contribution: De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

G.M. Mirzaa
, D.A. Parry
, A.E. Fry
, K.A. Giamanco
, J. Schwartztruber
, M. Vanstone
, C.V. Logan
, N.Y. Roberts
, C.A. Johnson
, S. Kulyadi
, S.S. Kholmanskikh
, C. Adams
, R.D. Hodge
, R.F. Hevner
, D.T. Bonthron
, K.P.J. Braun
, L. Faivre
, J.B. Riviere
, J. St-Onge
, K.W. Gripp

G.M. Mancini, K.M. Pang, E. Sweeney, H. van der Esch, N.E. Verbeek, D. Wieczorek, M. Steinraths, I.J. Majewski, x. FORGE Canada Consortium, X et al, K.M. Boycott, D.T. Pilz, M. Ross, W.B. Dobyns, E.G. Sheridan

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

Translated title of the contribution	De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Original language	Undefined/Unknown
Pages (from-to)	510-515
Number of pages	6
Journal	Nature Genetics
Volume	46
Issue number	5
DOIs	https://doi.org/10.1038/ng.2948
Publication status	Published - 2014

Keywords

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

Access to Document

10.1038/ng.2948

http://www.ncbi.nlm.nih.gov/pubmed/24705253

Cite this

Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartztruber, J., Vanstone, M., Logan, C. V., Roberts, N. Y., Johnson, C. A., Kulyadi, S., Kholmanskikh, S. S., Adams, C., Hodge, R. D., Hevner, R. F., Bonthron, D. T., Braun, K. P. J., Faivre, L., Riviere, J. B., St-Onge, J., ... Sheridan, E. G. (2014). De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics, 46(5), 510-515. https://doi.org/10.1038/ng.2948

@article{fa639a502b0946d6a0b63cb5331c47cc,

title = "De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome",

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

author = "G.M. Mirzaa and D.A. Parry and A.E. Fry and K.A. Giamanco and J. Schwartztruber and M. Vanstone and C.V. Logan and N.Y. Roberts and C.A. Johnson and S. Kulyadi and S.S. Kholmanskikh and C. Adams and R.D. Hodge and R.F. Hevner and D.T. Bonthron and K.P.J. Braun and L. Faivre and J.B. Riviere and J. St-Onge and K.W. Gripp and G.M. Mancini and K.M. Pang and E. Sweeney and \{van der Esch\}, H. and N.E. Verbeek and D. Wieczorek and M. Steinraths and I.J. Majewski and \{FORGE Canada Consortium\}, x. and \{et al\}, X and K.M. Boycott and D.T. Pilz and M. Ross and W.B. Dobyns and E.G. Sheridan",

year = "2014",

doi = "10.1038/ng.2948",

language = "Undefined/Unknown",

volume = "46",

pages = "510--515",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "5",

}

Mirzaa, GM, Parry, DA, Fry, AE, Giamanco, KA, Schwartztruber, J, Vanstone, M, Logan, CV, Roberts, NY, Johnson, CA, Kulyadi, S, Kholmanskikh, SS, Adams, C, Hodge, RD, Hevner, RF, Bonthron, DT, Braun, KPJ, Faivre, L, Riviere, JB, St-Onge, J, Gripp, KW, Mancini, GM, Pang, KM, Sweeney, E, van der Esch, H, Verbeek, NE, Wieczorek, D, Steinraths, M, Majewski, IJ, FORGE Canada Consortium, X, et al, X, Boycott, KM, Pilz, DT, Ross, M, Dobyns, WB & Sheridan, EG 2014, 'De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome', Nature Genetics, vol. 46, no. 5, pp. 510-515. https://doi.org/10.1038/ng.2948

TY - JOUR

T1 - De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

AU - Mirzaa, G.M.

AU - Parry, D.A.

AU - Fry, A.E.

AU - Giamanco, K.A.

AU - Schwartztruber, J.

AU - Vanstone, M.

AU - Logan, C.V.

AU - Roberts, N.Y.

AU - Johnson, C.A.

AU - Kulyadi, S.

AU - Kholmanskikh, S.S.

AU - Adams, C.

AU - Hodge, R.D.

AU - Hevner, R.F.

AU - Bonthron, D.T.

AU - Braun, K.P.J.

AU - Faivre, L.

AU - Riviere, J.B.

AU - St-Onge, J.

AU - Gripp, K.W.

AU - Mancini, G.M.

AU - Pang, K.M.

AU - Sweeney, E.

AU - van der Esch, H.

AU - Verbeek, N.E.

AU - Wieczorek, D.

AU - Steinraths, M.

AU - Majewski, I.J.

AU - FORGE Canada Consortium, x.

AU - et al, X

AU - Boycott, K.M.

AU - Pilz, D.T.

AU - Ross, M.

AU - Dobyns, W.B.

AU - Sheridan, E.G.

PY - 2014

Y1 - 2014

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

U2 - 10.1038/ng.2948

DO - 10.1038/ng.2948

M3 - Article

C2 - 24705253

SN - 1061-4036

VL - 46

SP - 510

EP - 515

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -