Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.

R. Hastings; T. Charman; T.C. Neilson; V. Mash; H. Archer; M.T. Gardiner; G.P. Knudsen; A. McDonnell; J. Perry; S.D. Whatley; D.J. Bunyan; K. Ravn; R.H. Mount; R.P. Hastings; M. Hulten; K.H. Orstavik; S. Reilly; H. Cass; A. Clarke; A.M. Kerr; M.E. Bailey

doi:10.1038/sj.ejhg.5201471

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.

R. Hastings
, T. Charman
, T.C. Neilson
, V. Mash
, H. Archer
, M.T. Gardiner
, G.P. Knudsen
, A. McDonnell
, J. Perry
, S.D. Whatley
, D.J. Bunyan
, K. Ravn
, R.H. Mount
, R.P. Hastings
, M. Hulten
, K.H. Orstavik
, S. Reilly
, H. Cass
, A. Clarke
, A.M. Kerr

M.E. Bailey

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

Original language	English
Pages (from-to)	1121-1130
Journal	European Journal of Human Genetics
Volume	13
Issue number	10
DOIs	https://doi.org/10.1038/sj.ejhg.5201471
Publication status	Published - 1 Oct 2005

Keywords

BIOCHEMISTRY & MOLECULAR BIOLOGY
GENETICS & HEREDITY

Access to Document

10.1038/sj.ejhg.5201471

Cite this

Hastings, R., Charman, T., Neilson, T. C., Mash, V., Archer, H., Gardiner, M. T., Knudsen, G. P., McDonnell, A., Perry, J., Whatley, S. D., Bunyan, D. J., Ravn, K., Mount, R. H., Hastings, R. P., Hulten, M., Orstavik, K. H., Reilly, S., Cass, H., Clarke, A., ... Bailey, M. E. (2005). Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics, 13(10), 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

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keywords = "BIOCHEMISTRY \& MOLECULAR BIOLOGY, GENETICS \& HEREDITY",

author = "R. Hastings and T. Charman and T.C. Neilson and V. Mash and H. Archer and M.T. Gardiner and G.P. Knudsen and A. McDonnell and J. Perry and S.D. Whatley and D.J. Bunyan and K. Ravn and R.H. Mount and R.P. Hastings and M. Hulten and K.H. Orstavik and S. Reilly and H. Cass and A. Clarke and A.M. Kerr and M.E. Bailey",

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month = oct,

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doi = "10.1038/sj.ejhg.5201471",

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Hastings, R, Charman, T, Neilson, TC, Mash, V, Archer, H, Gardiner, MT, Knudsen, GP, McDonnell, A, Perry, J, Whatley, SD, Bunyan, DJ, Ravn, K, Mount, RH, Hastings, RP, Hulten, M, Orstavik, KH, Reilly, S, Cass, H, Clarke, A, Kerr, AM & Bailey, ME 2005, 'Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.', European Journal of Human Genetics, vol. 13, no. 10, pp. 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

TY - JOUR

T1 - Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.

AU - Hastings, R.

AU - Charman, T.

AU - Neilson, T.C.

AU - Mash, V.

AU - Archer, H.

AU - Gardiner, M.T.

AU - Knudsen, G.P.

AU - McDonnell, A.

AU - Perry, J.

AU - Whatley, S.D.

AU - Bunyan, D.J.

AU - Ravn, K.

AU - Mount, R.H.

AU - Hastings, R.P.

AU - Hulten, M.

AU - Orstavik, K.H.

AU - Reilly, S.

AU - Cass, H.

AU - Clarke, A.

AU - Kerr, A.M.

AU - Bailey, M.E.

PY - 2005/10/1

Y1 - 2005/10/1

KW - BIOCHEMISTRY & MOLECULAR BIOLOGY

KW - GENETICS & HEREDITY

U2 - 10.1038/sj.ejhg.5201471

DO - 10.1038/sj.ejhg.5201471

M3 - Article

SN - 1018-4813

VL - 13

SP - 1121

EP - 1130

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -