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Gendiagnostische Befunde und Zusatzbefunde im klinischen Alltag

Chancen und Herausforderungen moderner Methoden

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Literatur:

  1. Willmott C, Bryant J. Genomics is here: what can we do with it, and what ethical issues has it brought along for the ride? New Bioeth. 2023;29(1):1-9

  2. Xiao T, Zhou W. The third generation sequencing: the advanced approach to genetic diseases. Transl Pediatr. 2020;9(2):163-73

  3. Wright CF, FitzPatrick DR, Firth HV. Paediatric genomics: diagnosing rare disease in children. Nat Rev Genet. 2018;19(5):253-68

  4. Bick D, Jones M, Taylor SL et al. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019;56(12):783-91

  5. Abicht A, Neuhann T, Mehnert L et al. Diagnostik seltener Erkrankungen mit „next generation sequencing“ - angekommen oder abgewehrt? medgen. 2019;31:335-43

  6. Olbrich H, Omran H. Angewandte genetische Diagnostik in der Pädiatrie: Vor- und Nachteile moderner Sequenziermethoden. Monatsschr Kinderheilkd. 2020;168:10-20

  7. Wright CF et al. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland. N Engl J Med. 2023;388(17):1559-71

  8. Smith HS et al. Clinical application of genome and exome sequencing as a diagnostic tool for pediatric patients: a Scoping Review of the Literature. Genet Med. 2019;21(1):3-16

  9. Rillig F, Grüters A, Schramm C et al. The interdisciplinary diagnosis of rare diseases - results of the Translate-NAMSE project. Dtsch Arztebl Int. 2022;119(27-28):469-75

  10. Mazzola SE, O‘Connor B, Yashar BM. Primary care physicians‘ understanding and utilization of pediatric exome sequencing results. J Genet Couns. 2019;28(6):1130-8

  11. Kart B, Hennig A, Schneider SA et al. Information potentiell betroffener Verwandter durch den Arzt im Rahmen der Gendiagnostik. MedR. 2021;39:775-84

  12. Krawitz P, Haack TB. Editorial - Diagnostic genome sequencing in rare disorders. Medizinische Genetik. 2023;35(2):89

  13. Schmidtke J, Rüping U, Stock N. Nebenbefunde in der Genommedizin: Rechtliche Sprengkraft. Dtsch Ärztebl. 2022;119(29-30):A1303-4

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  1. Klinik für Kinder- und Jugendmedizin, Gemeinschaftsklinikum Mittelrhein gGmbH, Koblenzer Straße 115-155, 56073, Koblenz, Germany

    Tobias Lindau

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  1. Tobias Lindau
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Lindau, T. Gendiagnostische Befunde und Zusatzbefunde im klinischen Alltag. Pädiatrie 36, 36–39 (2024). https://doi.org/10.1007/s15014-024-5356-x

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  • DOI: https://doi.org/10.1007/s15014-024-5356-x

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