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

108 Citations (Scopus)

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

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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

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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.

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DO - 10.1038/ejhg.2012.172

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SN - 1018-4813

VL - 21

SP - 274

EP - 280

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

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