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@ARTICLE{GburekAugustat:155692,
      author       = {Gburek-Augustat, Janina and Schoene-Bake, Jan-Christoph and
                      Bültmann, Eva and Haack, Tobias and Buchert, Rebecca and
                      Synofzik, Matthis and Biskup, Saskia and Feuerhake,
                      Friedrich and Sorge, Ina and Hartmann, Hans},
      title        = {{P}itfalls in {G}enetic {D}iagnostics: {W}hy {P}henotyping
                      is {E}ssential.},
      journal      = {Neuropediatrics},
      volume       = {52},
      number       = {4},
      issn         = {1439-1899},
      address      = {Stuttgart [u.a.]},
      publisher    = {Thieme},
      reportid     = {DZNE-2021-00860},
      pages        = {274 - 283},
      year         = {2021},
      abstract     = {New genetic testing technologies have revolutionized
                      medicine within the past years. It is foreseeable that the
                      development will continue with the introduction of new
                      techniques. Nevertheless, despite improved technology, an
                      exact clinical description of the phenotype is still
                      necessary and it is important to critically question
                      findings, both before initiating genetic testing and when
                      interpreting the results. We present four brief case
                      vignettes to point out difficulties associated with
                      correctly interpreting genetic findings.},
      keywords     = {Genetic Testing / Humans / Phenotype},
      cin          = {AG Gasser 1},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:33791999},
      doi          = {10.1055/s-0041-1726306},
      url          = {https://pub.dzne.de/record/155692},
}