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Issue Date
Title
Author(s)
2018-12-01
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Ewans, LJ
;
Schofield, D
;
Shrestha, R
;
Zhu, Y
;
Gayevskiy, V
;
Ying, K
;
Walsh, C
;
Lee, E
;
Kirk, EP
;
Colley, A
;
Ellaway, C
;
Turner, A
;
Mowat, D
;
Worgan, L
;
Freckmann, ML
;
Lipke, M
;
Sachdev, R
;
Miller, D
;
Field, M
;
Dinger, ME
;
Buckley, MF
;
Cowley, MJ
;
Roscioli, T
2018-03-01
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
Palmer, EE
;
Schofield, D
;
Shrestha, R
;
Kandula, T
;
Macintosh, R
;
Lawson, JA
;
Andrews, I
;
Sampaio, H
;
Johnson, AM
;
Farrar, MA
;
Cardamone, M
;
Mowat, D
;
Elakis, G
;
Lo, W
;
Zhu, Y
;
Ying, K
;
Morris, P
;
Tao, J
;
Dias, KR
;
Buckley, M
;
Dinger, ME
;
Cowley, MJ
;
Roscioli, T
;
Kirk, EP
;
Bye, A
;
Sachdev, RK
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Cowley, MJ
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Dinger, ME
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Kirk, EP
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Mowat, D
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Roscioli, T
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Schofield, D
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Shrestha, R
2
Ying, K
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Zhu, Y
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Andrews, I
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Cost-Benefit Analysis
2
Female
2
Genetic Testing
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Humans
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Whole Exome Sequencing
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Child
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Child, Preschool
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Computational Biology
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Epilepsy, Generalized
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Date issued
2
2018
Has File(s)
2
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2
Journal Article
Copyright Status
1
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