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@ARTICLE{Pogoda:145091,
      author       = {Pogoda, Michaela and Hilke, Franz-Joachim and Lohmann, Ebba
                      and Sturm, Marc and Lenz, Florian and Matthes, Jakob and
                      Muyas, Francesc and Ossowski, Stephan and Hoischen,
                      Alexander and Faust, Ulrike and Sepahi, Ilnaz and Casadei,
                      Nicolas and Poths, Sven and Riess, Olaf and Schroeder,
                      Christopher and Grundmann, Kathrin},
      title        = {{S}ingle {M}olecule {M}olecular {I}nversion {P}robes for
                      {H}igh {T}hroughput {G}ermline {S}creenings in {D}ystonia.},
      journal      = {Frontiers in neurology},
      volume       = {10},
      issn         = {1664-2295},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {DZNE-2020-00450},
      pages        = {1332},
      year         = {2019},
      abstract     = {Background: This study's aim was to investigate a large
                      cohort of dystonia patients for pathogenic and rare variants
                      in the ATM gene, making use of a new, cost-efficient
                      enrichment technology for NGS-based screening. Methods:
                      Single molecule Molecular Inversion Probes (smMIPs) were
                      used for targeted enrichment and sequencing of all protein
                      coding exons and exon-intron boundaries of the ATM gene in
                      373 dystonia patients and six positive controls with known
                      ATM variants. Additionally, a rare-variant association study
                      was performed. Results: One patient $(0.3\%)$ was compound
                      heterozygous and 21 others were carriers of variants of
                      unknown significance (VUS) in the ATM gene. Although
                      mutations in sporadic dystonia patients are not common,
                      exclusion of pathogenic variants is crucial to recognize a
                      potential tumor predisposition syndrome. SmMIPs produced
                      similar results as routinely used NGS-based approaches.
                      Conclusion: Our results underline the importance of
                      implementing ATM in the routine genetic testing of dystonia
                      patients and confirm the reliability of smMIPs and their
                      usability for germline screenings in rare neurodegenerative
                      conditions.},
      cin          = {AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31920950},
      pmc          = {pmc:PMC6930228},
      doi          = {10.3389/fneur.2019.01332},
      url          = {https://pub.dzne.de/record/145091},
}