Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

Manon S. Oud, Liliana Ramos, Moira K. O'Bryan, Robert I. McLachlan, Ozlem Okutman, Stephane Viville, Petra F. de Vries, Dominique F. C. M. Smeets, Dorien Lugtenberg, Jayne Y. Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E. L. M. Vissers, Alexander Hoischen, Aukje M. Meijerink, Kathrin Fleischer, Joris A. Veltman*, Michiel J. Noordam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1592-1605
Number of pages14
JournalHuman Mutation
Volume38
Issue number11
DOIs
Publication statusPublished - Nov 2017

Keywords

  • Azoospermia
  • CBAVD
  • CFTR
  • Diagnostics
  • Male Infertility
  • Oligozoospermia
  • Reproduction
  • smMIPs
  • Targeted Sequencing
  • MOLECULAR INVERSION PROBES
  • HUMAN Y-CHROMOSOME
  • CONGENITAL BILATERAL ABSENCE
  • MALE-INFERTILITY
  • VAS-DEFERENS
  • DPY19L2 DELETION
  • CYSTIC-FIBROSIS
  • HIGH-THROUGHPUT
  • MEIOTIC ARREST
  • MUTATIONS

Cite this

Oud, M. S., Ramos, L., O'Bryan, M. K., McLachlan, R. I., Okutman, O., Viville, S., de Vries, P. F., Smeets, D. F. C. M., Lugtenberg, D., Hehir-Kwa, J. Y., Gilissen, C., van de Vorst, M., Vissers, L. E. L. M., Hoischen, A., Meijerink, A. M., Fleischer, K., Veltman, J. A., & Noordam, M. J. (2017). Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Human Mutation, 38(11), 1592-1605. https://doi.org/10.1002/humu.23312