Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Peer Arts, Annet Simons, Mofareh S. AlZahrani, Elanur Yilmaz, Eman AlIdrissi, Koen J. van Aerde, Njood Alenezi, Hamza A. AlGhamdi, Hadeel A. AlJubab, Abdulrahman A. Al-Hussaini, Fahad AlManjomi, Alaa B. Alsaad, Badr Alsaleem, Abdulrahman A. Andijani, Ali Asery, Walid Ballourah, Chantal P. Bleeker-Rovers, Marcel van Deuren, Michiel van der Flier, Erica H. GerkesChristian Gilissen, Murad K. Habazi, Jayne Y. Hehir-Kwa, Stefanie S. Henriet, Esther P. Hoppenreijs, Sarah Hortillosa, Chantal H. Kerkhofs, Riikka Keski-Filppula, Stefan H. Lelieveld, Khurram Lone, Marius A. MacKenzie, Arjen R. Mensenkamp, Jukka Moilanen, Marcel Nelen, Jaap ten Oever, Judith Potjewijd, Pieter van Paassen, Janneke H. M. Schuurs-Hoeijmakers, Anna Simon, Tomasz Stokowy, Maartje van de Vorst, Maaike Vreeburg, Anja Wagner, Gijs T. J. van Well, Dimitra Zafeiropoulou, Evelien Zonneveld-Huijssoon, Joris A. Veltman, Wendy A. G. van Zelst-Stams, Eissa A. Faqeih, Frank L. van de Veerdonk, Mihai G. Netea, Alexander Hoischen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number38
Pages (from-to)1-15
Number of pages15
JournalGenome Medicine
Volume11
DOIs
Publication statusPublished - 17 Jun 2019

Keywords

  • Routine diagnostics
  • Genetic diagnosis
  • Exome sequencing
  • Primary immunodeficiencies
  • STEM-CELL TRANSPLANTATION
  • GAIN-OF-FUNCTION
  • HEMATOPOIETIC STEM
  • CENTROMERIC INSTABILITY
  • AUTOSOMAL-DOMINANT
  • MUTATIONS
  • DEFICIENCY
  • DISEASE
  • CHILDREN
  • VARIANTS

Cite this

Arts, P., Simons, A., AlZahrani, M. S., Yilmaz, E., AlIdrissi, E., van Aerde, K. J., Alenezi, N., AlGhamdi, H. A., AlJubab, H. A., Al-Hussaini, A. A., AlManjomi, F., Alsaad, A. B., Alsaleem, B., Andijani, A. A., Asery, A., Ballourah, W., Bleeker-Rovers, C. P., van Deuren, M., van der Flier, M., ... Hoischen, A. (2019). Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies. Genome Medicine, 11, 1-15. [38]. https://doi.org/10.1186/s13073-019-0649-3