@article{WeisschuhMayerStrometal.2016,
  author    = {Weisschuh, Nicole and Mayer, Anja K. and Strom, Tim M. and Kohl, Susanne and Gl{\"o}ckle, Nicola and Schubach, Max and Andreasson, Sten and Bernd, Antje and Birch, David G. and Hamel, Christian P. and Heckenlively, John R. and Jacobson, Samuel G. and Kamme, Christina and Kellner, Ulrich and Kunstmann, Erdmute and Maffei, Pietro and Reiff, Charlotte M. and Rohrschneider, Klaus and Rosenberg, Thomas and Rudolph, G{\"u}nther and V{\´a}mos, Rita and Vars{\´a}nyi, Bal{\´a}zs and Weleber, Richard G. and Wissinger, Bernd},
  title     = {Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing},
  series = {PLoS ONE},
  volume    = {11},
  journal   = {PLoS ONE},
  number    = {1},
  doi       = {10.1371/journal.pone.0145951},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-167398},
  pages     = {e0145951},
  year      = {2016},
  abstract  = {Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of patients comprising 89 independent cases and families with various subforms of RD applying different NGS platforms. While mutation screening in 50 cases was performed using a RD gene capture panel, 47 cases were analyzed using whole exome sequencing. One family was analyzed using whole genome sequencing. A detection rate of 61\% was achieved including mutations in 34 known and two novel RD genes. A total of 69 distinct mutations were identified, including 39 novel mutations. Notably, genetic findings in several families were not consistent with the initial clinical diagnosis. Clinical reassessment resulted in refinement of the clinical diagnosis in some of these families and confirmed the broad clinical spectrum associated with mutations in RD genes.},
  language  = {en}
}
@article{HornKellerHildebrandtetal.2016,
  author    = {Horn, Hannes and Keller, Alexander and Hildebrandt, Ulrich and K{\"a}mpfer, Peter and Riederer, Markus and Hentschel, Ute},
  title     = {Draft genome of the \(Arabidopsis\) \(thaliana\) phyllosphere bacterium, \(Williamsia\) sp. ARP1},
  series = {Standards in Genomic Sciences},
  volume    = {11},
  journal   = {Standards in Genomic Sciences},
  number    = {8},
  doi       = {10.1186/s40793-015-0122-x},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-146008},
  year      = {2016},
  abstract  = {The Gram-positive actinomycete \(Williamsia\) sp. ARP1 was originally isolated from the \(Arabidopsis\) \(thaliana\) phyllosphere. Here we describe the general physiological features of this microorganism together with the draft genome sequence and annotation. The 4,745,080 bp long genome contains 4434 protein-coding genes and 70 RNA genes. To our knowledge, this is only the second reported genome from the genus \(Williamsia\) and the first sequenced strain from the phyllosphere. The presented genomic information is interpreted in the context of an adaptation to the phyllosphere habitat.},
  language  = {en}
}