Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

Gina Ravenscroft; E.M. Thompson; Emily Todd; K.S. Yau; Nina Kresoje; P. Sivadorai; K. Friend; K. Riley; N.D. Manton; P. Blumbergs; M. Fietz; Rachael Duff; M.R. Davis; Richard Allcock; Nigel Laing

doi:10.1016/j.nmd.2012.11.005

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

Gina Ravenscroft, E.M. Thompson, Emily Todd, K.S. Yau, Nina Kresoje, P. Sivadorai, K. Friend, K. Riley, N.D. Manton, P. Blumbergs, M. Fietz, Rachael Duff, M.R. Davis, Richard Allcock, Nigel Laing

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

28 Citations (Scopus)

Original language	English
Pages (from-to)	165-169
Journal	Neuromuscular Disorders
Volume	23
DOIs	https://doi.org/10.1016/j.nmd.2012.11.005
Publication status	Published - 2013

UN SDGs

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

Access to Document

10.1016/j.nmd.2012.11.005

Cite this

Ravenscroft, G., Thompson, E. M., Todd, E., Yau, K. S., Kresoje, N., Sivadorai, P., Friend, K., Riley, K., Manton, N. D., Blumbergs, P., Fietz, M., Duff, R., Davis, M. R., Allcock, R., & Laing, N. (2013). Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. Neuromuscular Disorders, 23, 165-169. https://doi.org/10.1016/j.nmd.2012.11.005

@article{0eeb1f1c0e9f47708a3ee423a1e26076,

title = "Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations",

author = "Gina Ravenscroft and E.M. Thompson and Emily Todd and K.S. Yau and Nina Kresoje and P. Sivadorai and K. Friend and K. Riley and N.D. Manton and P. Blumbergs and M. Fietz and Rachael Duff and M.R. Davis and Richard Allcock and Nigel Laing",

year = "2013",

doi = "10.1016/j.nmd.2012.11.005",

language = "English",

volume = "23",

pages = "165--169",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Pergamon",

}

Ravenscroft, G, Thompson, EM, Todd, E, Yau, KS, Kresoje, N, Sivadorai, P, Friend, K, Riley, K, Manton, ND, Blumbergs, P, Fietz, M, Duff, R, Davis, MR, Allcock, R & Laing, N 2013, 'Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations', Neuromuscular Disorders, vol. 23, pp. 165-169. https://doi.org/10.1016/j.nmd.2012.11.005

TY - JOUR

T1 - Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

AU - Ravenscroft, Gina

AU - Thompson, E.M.

AU - Todd, Emily

AU - Yau, K.S.

AU - Kresoje, Nina

AU - Sivadorai, P.

AU - Friend, K.

AU - Riley, K.

AU - Manton, N.D.

AU - Blumbergs, P.

AU - Fietz, M.

AU - Duff, Rachael

AU - Davis, M.R.

AU - Allcock, Richard

AU - Laing, Nigel

PY - 2013

Y1 - 2013

U2 - 10.1016/j.nmd.2012.11.005

DO - 10.1016/j.nmd.2012.11.005

M3 - Article

VL - 23

SP - 165

EP - 169

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

ER -