Next-generation sequencing in X-linked intellectual disability

  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},
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
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