Next-generation sequencing in X-linked intellectual disability

@article{Tzschach2015NextgenerationSI,
  title={Next-generation sequencing in X-linked intellectual disability},
  author={Andreas Tzschach and Ute Grasshoff and Stefanie Beck-Woedl and Claudia Dufke and Claudia Bauer and Martin Kehrer and Christina Evers and Ute Moog and Barbara Oehl-Jaschkowitz and Nataliya Di Donato and Robert Maiwald and Christine Jung and Alma Kuechler and Stefan Schulz and Peter Meinecke and Stephanie Spranger and J{\"u}rgen Kohlhase and Joerg Seidel and Silke Reif and Manuela Rieger and Angelika Riess and M. M. Sturm and Julia K Bickmann and Christopher Schr{\"o}der and Andreas Dufke and Olaf Riess and Peter Bauer},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={1513-1518}
}
X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts. We performed targeted enrichment and next-generation sequencing of 107 XLID genes in a cohort of 150 male patients. Hundred patients had sporadic intellectual disability, and 50 patients had a family history suggestive of XLID. We… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 8 times over the past 90 days. VIEW TWEETS
21 Citations
27 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 21 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 27 references

Novel SLC 9 A 6 mutations in two families with Christianson syndrome

  • A Riess, E Rossier, R Krüger
  • Clin Genet
  • 2013

Similar Papers

Loading similar papers…