Diagnostic value of exome and whole genome sequencing in craniosynostosis

KA Miller; SRF Twigg; SJ McGowan; JM Phipps; AL Fenwick; D Johnson; SA Wall; P Noons; KEM Rees; EA Tidey; J Craft; J Taylor; JC Taylor; Jacqueline Goos; Sigrid Swagemakers; Irene Mathijssen; Peter van der Spek; H Lord; T Lester; N Abid; D Cilliers; JA Hurst; JEV Morton; E Sweeney; A Weber; LC Wilson; AOM Wilkie

doi:10.1136/jmedgenet-2016-104215

Diagnostic value of exome and whole genome sequencing in craniosynostosis

KA Miller
, SRF Twigg
, SJ McGowan
, JM Phipps
, AL Fenwick
, D Johnson
, SA Wall
, P Noons
, KEM Rees
, EA Tidey
, J Craft
, J Taylor
, JC Taylor
, Jacqueline Goos
, Sigrid Swagemakers
, Irene Mathijssen
, Peter van der Spek
, H Lord
, T Lester
, N Abid

D Cilliers, JA Hurst, JEV Morton, E Sweeney, A Weber, LC Wilson, AOM Wilkie

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

113 Citations (Scopus)

48 Downloads (Pure)

Original language	Undefined/Unknown
Pages (from-to)	260-268
Number of pages	9
Journal	Journal of Medical Genetics
Volume	54
Issue number	4
DOIs	https://doi.org/10.1136/jmedgenet-2016-104215
Publication status	Published - 2017

Research programs

EMC MGC-02-02-01
EMC NIHES-01-50-01-A

Access to Document

10.1136/jmedgenet-2016-104215

REPUB_94544_OA.pdfFinal published version, 558 KB

http://hdl.handle.net/1765/94544

Cite this

Miller, KA., Twigg, SRF., McGowan, SJ., Phipps, JM., Fenwick, AL., Johnson, D., Wall, SA., Noons, P., Rees, KEM., Tidey, EA., Craft, J., Taylor, J., Taylor, JC., Goos, J., Swagemakers, S., Mathijssen, I., van der Spek, P., Lord, H., Lester, T., ... Wilkie, AOM. (2017). Diagnostic value of exome and whole genome sequencing in craniosynostosis. Journal of Medical Genetics, 54(4), 260-268. https://doi.org/10.1136/jmedgenet-2016-104215

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Miller, KA, Twigg, SRF, McGowan, SJ, Phipps, JM, Fenwick, AL, Johnson, D, Wall, SA, Noons, P, Rees, KEM, Tidey, EA, Craft, J, Taylor, J, Taylor, JC, Goos, J , Swagemakers, S , Mathijssen, I , van der Spek, P, Lord, H, Lester, T, Abid, N, Cilliers, D, Hurst, JA, Morton, JEV, Sweeney, E, Weber, A, Wilson, LC & Wilkie, AOM 2017, 'Diagnostic value of exome and whole genome sequencing in craniosynostosis', Journal of Medical Genetics, vol. 54, no. 4, pp. 260-268. https://doi.org/10.1136/jmedgenet-2016-104215

TY - JOUR

T1 - Diagnostic value of exome and whole genome sequencing in craniosynostosis

AU - Miller, KA

AU - Twigg, SRF

AU - McGowan, SJ

AU - Phipps, JM

AU - Fenwick, AL

AU - Johnson, D

AU - Wall, SA

AU - Noons, P

AU - Rees, KEM

AU - Tidey, EA

AU - Craft, J

AU - Taylor, J

AU - Taylor, JC

AU - Goos, Jacqueline

AU - Swagemakers, Sigrid

AU - Mathijssen, Irene

AU - van der Spek, Peter

AU - Lord, H

AU - Lester, T

AU - Abid, N

AU - Cilliers, D

AU - Hurst, JA

AU - Morton, JEV

AU - Sweeney, E

AU - Weber, A

AU - Wilson, LC

AU - Wilkie, AOM

PY - 2017

Y1 - 2017

U2 - 10.1136/jmedgenet-2016-104215

DO - 10.1136/jmedgenet-2016-104215

M3 - Article

C2 - 27884935

SN - 0022-2593

VL - 54

SP - 260

EP - 268

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 4

ER -