The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y. Hehir-Kwa, Stefan H. Lelieveld, Steven Castelein, Christian Gilissen, Ilse J. de Wijs, Ronald J. C. Admiraal, Ronald J. E. Pennings, Henricus P. M. Kunst, Jiddeke M. van de Kamp, Saskia Tamminga, Arjan C. Houweling, Astrid S. Plomp, Saskia M. Maas, Pia A. M. de Koning Gans, Sarina G. Kant, Christa M. de GeusSuzanna G. M. Frints, Els K. Vanhoutte, Marieke F. van Dooren, Marie-Jose H. van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders, Helger G. Yntema*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)308-314
Number of pages7
JournalEuropean Journal of Human Genetics
Volume25
Issue number3
DOIs
Publication statusPublished - Feb 2017

Keywords

  • COPY NUMBER VARIANTS
  • MUTATION
  • DEAFNESS
  • IDENTIFICATION
  • FREQUENCY
  • OTOGELIN
  • SPECTRUM
  • EAR

Cite this

Seco, C. Z., Wesdorp, M., Feenstra, I., Pfundt, R., Hehir-Kwa, J. Y., Lelieveld, S. H., Castelein, S., Gilissen, C., de Wijs, I. J., Admiraal, R. J. C., Pennings, R. J. E., Kunst, H. P. M., van de Kamp, J. M., Tamminga, S., Houweling, A. C., Plomp, A. S., Maas, S. M., Gans, P. A. M. D. K., Kant, S. G., ... Yntema, H. G. (2017). The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. European Journal of Human Genetics, 25(3), 308-314. https://doi.org/10.1038/ejhg.2016.182