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

Overwater, E.; Marsili, L.; Baars, M.J.H.; Baas, A.F.; Beek, I. van de; Dulfer, E.; ... ; Maugeri, A. (2018)

Article / Letter to editor

• copy-number variations
• eXome hidden Markov model
• genetics
• thoracic aortic aneurysm
• thoracic aortic dissection

• All authors: Overwater, E.; Marsili, L.; Baars, M.J.H.; Baas, A.F.; Beek, I. van de; Dulfer, E.; Hagen, J.M. van; Hilhorst-Hofstee, Y.; Kempers, M.; Krapels, I.P.; Menke, L.A.; Verhagen, J.M.A.; Yeung, K.K.; Zwijnenburg, P.J.G.; Groenink, M.; Rijn, P. van; Weiss, M.M.; Voorhoeve, E.; Tintelen, J.P. van; Houweling, A.C.; Maugeri, A.
• Date: 2018-09-30
• Journal: Human Mutation
• Volume: 39
• Issue: 9
• Pages: 1173 - 1192
• DOI: doi:10.1002/humu.23565
• Link: https://onlinelibrary.wiley.com/doi/epdf/10.1002/humu.23565