Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

M.E. Shanks; S.M. Downes; R.R. Copley; S. Lise; J. Broxholme; K.A. Hudspith; A. Kwasniewska; Wayne Davies; M.W. Hankins; E.R. Packham; P. Clouston; A. Seller; A.O. Wilkie; J.C. Taylor; J. Ragoussis; A.H. Németh

doi:10.1038/ejhg.2012.172

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

M.E. Shanks
, S.M. Downes
, R.R. Copley
, S. Lise
, J. Broxholme
, K.A. Hudspith
, A. Kwasniewska
, Wayne Davies
, M.W. Hankins
, E.R. Packham
, P. Clouston
, A. Seller
, A.O. Wilkie
, J.C. Taylor
, J. Ragoussis
, A.H. Németh

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

Original language	English
Pages (from-to)	274-280
Journal	European Journal of Human Genetics
Volume	21
Issue number	3
DOIs	https://doi.org/10.1038/ejhg.2012.172
Publication status	Published - 2013

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10.1038/ejhg.2012.172

Cite this

Shanks, M. E., Downes, S. M., Copley, R. R., Lise, S., Broxholme, J., Hudspith, K. A., Kwasniewska, A., Davies, W., Hankins, M. W., Packham, E. R., Clouston, P., Seller, A., Wilkie, A. O., Taylor, J. C., Ragoussis, J., & Németh, A. H. (2013). Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. European Journal of Human Genetics, 21(3), 274-280. https://doi.org/10.1038/ejhg.2012.172

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author = "M.E. Shanks and S.M. Downes and R.R. Copley and S. Lise and J. Broxholme and K.A. Hudspith and A. Kwasniewska and Wayne Davies and M.W. Hankins and E.R. Packham and P. Clouston and A. Seller and A.O. Wilkie and J.C. Taylor and J. Ragoussis and A.H. N{\'e}meth",

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Shanks, ME, Downes, SM, Copley, RR, Lise, S, Broxholme, J, Hudspith, KA, Kwasniewska, A, Davies, W, Hankins, MW, Packham, ER, Clouston, P, Seller, A, Wilkie, AO, Taylor, JC, Ragoussis, J & Németh, AH 2013, 'Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease', European Journal of Human Genetics, vol. 21, no. 3, pp. 274-280. https://doi.org/10.1038/ejhg.2012.172

TY - JOUR

T1 - Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

AU - Shanks, M.E.

AU - Downes, S.M.

AU - Copley, R.R.

AU - Lise, S.

AU - Broxholme, J.

AU - Hudspith, K.A.

AU - Kwasniewska, A.

AU - Davies, Wayne

AU - Hankins, M.W.

AU - Packham, E.R.

AU - Clouston, P.

AU - Seller, A.

AU - Wilkie, A.O.

AU - Taylor, J.C.

AU - Ragoussis, J.

AU - Németh, A.H.

PY - 2013

Y1 - 2013

U2 - 10.1038/ejhg.2012.172

DO - 10.1038/ejhg.2012.172

M3 - Article

C2 - 22968130

SN - 1018-4813

VL - 21

SP - 274

EP - 280

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 3

ER -