Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

Eline Overwater, Luisa Marsili, Marieke J. H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst-Hofstee, Marlies Kempers, Ingrid P. Krapels, Leonie A. Menke, Judith M. A. Verhagen, Kak K. Yeung, Petra J. G. Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. HouwelingAlessandra Maugeri

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1173-1192
Number of pages20
JournalHuman Mutation
Volume39
Issue number9
DOIs
Publication statusPublished - 1 Sep 2018

Keywords

  • copy-number variations
  • eXome hidden Markov model
  • genetics
  • thoracic aortic aneurysm
  • thoracic aortic dissection
  • LOEYS-DIETZ-SYNDROME
  • EHLERS-DANLOS-SYNDROME
  • GENOTYPE-PHENOTYPE CORRELATIONS
  • ARTERIAL-TORTUOSITY-SYNDROME
  • SYNDROME TYPE-IV
  • MARFAN-SYNDROME
  • FBN1 MUTATIONS
  • CLINICAL-FEATURES
  • TGFBR2 MUTATIONS
  • LOSARTAN THERAPY

Cite this

Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., ... Maugeri, A. (2018). Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Human Mutation, 39(9), 1173-1192. https://doi.org/10.1002/humu.23565