Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

A. Itsara; L.E. Vissers; K.M. Steinberg; K.J. Meyer; M.C. Zody; D.A. Koolen; J. de Ligt; E.P.J.G. Cuppen; C. Baker; C. Lee; T.A. Graves; R.K. Wilson; R.B. Jenkins; J.A. Veltman; E.E. Eichler

doi:10.1016/j.ajhg.2012.02.013

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

Translated title of the contribution: Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

A. Itsara
, L.E. Vissers
, K.M. Steinberg
, K.J. Meyer
, M.C. Zody
, D.A. Koolen
, J. de Ligt
, E.P.J.G. Cuppen
, C. Baker
, C. Lee
, T.A. Graves
, R.K. Wilson
, R.B. Jenkins
, J.A. Veltman
, E.E. Eichler

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

Translated title of the contribution	Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing
Original language	Undefined/Unknown
Pages (from-to)	599-613
Number of pages	15
Journal	American Journal of Human Genetics
Volume	90
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2012.02.013
Publication status	Published - 2012

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)
Medical sciences
Bescherming en bevordering van de menselijke gezondheid

Access to Document

10.1016/j.ajhg.2012.02.013

http://www.ncbi.nlm.nih.gov/pubmed?term=Resolving%20the%20breakpoints%20of%20the%2017q21.31%20microdeletion%20syndrome%20with%20next-generation%20

Cite this

Itsara, A., Vissers, L. E., Steinberg, K. M., Meyer, K. J., Zody, M. C., Koolen, D. A., de Ligt, J., Cuppen, E. P. J. G., Baker, C., Lee, C., Graves, T. A., Wilson, R. K., Jenkins, R. B., Veltman, J. A., & Eichler, E. E. (2012). Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. American Journal of Human Genetics, 90(4), 599-613. https://doi.org/10.1016/j.ajhg.2012.02.013

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keywords = "Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid",

author = "A. Itsara and L.E. Vissers and K.M. Steinberg and K.J. Meyer and M.C. Zody and D.A. Koolen and \{de Ligt\}, J. and E.P.J.G. Cuppen and C. Baker and C. Lee and T.A. Graves and R.K. Wilson and R.B. Jenkins and J.A. Veltman and E.E. Eichler",

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language = "Undefined/Unknown",

volume = "90",

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Itsara, A, Vissers, LE, Steinberg, KM, Meyer, KJ, Zody, MC, Koolen, DA, de Ligt, J, Cuppen, EPJG, Baker, C, Lee, C, Graves, TA, Wilson, RK, Jenkins, RB, Veltman, JA & Eichler, EE 2012, 'Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing', American Journal of Human Genetics, vol. 90, no. 4, pp. 599-613. https://doi.org/10.1016/j.ajhg.2012.02.013

TY - JOUR

T1 - Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

AU - Itsara, A.

AU - Vissers, L.E.

AU - Steinberg, K.M.

AU - Meyer, K.J.

AU - Zody, M.C.

AU - Koolen, D.A.

AU - de Ligt, J.

AU - Cuppen, E.P.J.G.

AU - Baker, C.

AU - Lee, C.

AU - Graves, T.A.

AU - Wilson, R.K.

AU - Jenkins, R.B.

AU - Veltman, J.A.

AU - Eichler, E.E.

PY - 2012

Y1 - 2012

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

KW - Medical sciences

KW - Bescherming en bevordering van de menselijke gezondheid

U2 - 10.1016/j.ajhg.2012.02.013

DO - 10.1016/j.ajhg.2012.02.013

M3 - Article

C2 - 22482802

SN - 0002-9297

VL - 90

SP - 599

EP - 613

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -