NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

E Overwater; K Floor; D van de Beek; K de Boer; TB van Dijk; Y Hilhorst-Hofstee; Jeannette Hoogeboom; KJ van Kaam; JM van de Kamp; M Kempers; IPC Krapels; HY Kroes; B Loeys; S Salemink; C Stumpel; Virginie Verhoeven; E Wijnands-van den Berg; JM Cobben; JP Tintelen; MM Weiss; AC Houweling; A Maugeri

doi:10.1016/j.ejmg.2017.06.005

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

E Overwater, K Floor, D van de Beek, K de Boer, TB van Dijk, Y Hilhorst-Hofstee, Jeannette Hoogeboom, KJ van Kaam, JM van de Kamp, M Kempers, IPC Krapels, HY Kroes, B Loeys, S Salemink, C Stumpel, Virginie Verhoeven, E Wijnands-van den Berg, JM Cobben, JP Tintelen, MM WeissAC Houweling, A Maugeri

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

15 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	465-473
Number of pages	9
Journal	European Journal of Medical Genetics
Volume	60
Issue number	9
DOIs	https://doi.org/10.1016/j.ejmg.2017.06.005
Publication status	Published - 2017

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10.1016/j.ejmg.2017.06.005

http://hdl.handle.net/1765/107997

Cite this

Overwater, E., Floor, K., van de Beek, D., de Boer, K., van Dijk, TB., Hilhorst-Hofstee, Y., Hoogeboom, J., van Kaam, KJ., van de Kamp, JM., Kempers, M., Krapels, IPC., Kroes, HY., Loeys, B., Salemink, S., Stumpel, C., Verhoeven, V., Wijnands-van den Berg, E., Cobben, JM., Tintelen, JP., ... Maugeri, A. (2017). NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. European Journal of Medical Genetics, 60(9), 465-473. https://doi.org/10.1016/j.ejmg.2017.06.005

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author = "E Overwater and K Floor and {van de Beek}, D and {de Boer}, K and {van Dijk}, TB and Y Hilhorst-Hofstee and Jeannette Hoogeboom and {van Kaam}, KJ and {van de Kamp}, JM and M Kempers and IPC Krapels and HY Kroes and B Loeys and S Salemink and C Stumpel and Virginie Verhoeven and {Wijnands-van den Berg}, E and JM Cobben and JP Tintelen and MM Weiss and AC Houweling and A Maugeri",

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doi = "10.1016/j.ejmg.2017.06.005",

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pages = "465--473",

journal = "European Journal of Medical Genetics",

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Overwater, E, Floor, K, van de Beek, D, de Boer, K, van Dijk, TB, Hilhorst-Hofstee, Y, Hoogeboom, J, van Kaam, KJ, van de Kamp, JM, Kempers, M, Krapels, IPC, Kroes, HY, Loeys, B, Salemink, S, Stumpel, C, Verhoeven, V, Wijnands-van den Berg, E, Cobben, JM, Tintelen, JP, Weiss, MM, Houweling, AC & Maugeri, A 2017, 'NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield', European Journal of Medical Genetics, vol. 60, no. 9, pp. 465-473. https://doi.org/10.1016/j.ejmg.2017.06.005

TY - JOUR

T1 - NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

AU - Overwater, E

AU - Floor, K

AU - van de Beek, D

AU - de Boer, K

AU - van Dijk, TB

AU - Hilhorst-Hofstee, Y

AU - Hoogeboom, Jeannette

AU - van Kaam, KJ

AU - van de Kamp, JM

AU - Kempers, M

AU - Krapels, IPC

AU - Kroes, HY

AU - Loeys, B

AU - Salemink, S

AU - Stumpel, C

AU - Verhoeven, Virginie

AU - Wijnands-van den Berg, E

AU - Cobben, JM

AU - Tintelen, JP

AU - Weiss, MM

AU - Houweling, AC

AU - Maugeri, A

PY - 2017

Y1 - 2017

U2 - 10.1016/j.ejmg.2017.06.005

DO - 10.1016/j.ejmg.2017.06.005

M3 - Article

SN - 1769-7212

VL - 60

SP - 465

EP - 473

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 9

ER -