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A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

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Title: A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.
Authors: Innamorato S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Basso SL; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Belakhdar O; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Bruttini M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Fallerini C; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Huseynli H; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Caccialupi G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Pasquinelli E; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Adduci M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Signori G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Arcuri F; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Malagnino V; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Siciliano MC; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Lazzi S; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Pesaresi S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy., Galimberti D; Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Galluzzi P; Unit of NeuroImaging and NeuroIntervention, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., De Francesco S; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Hadijstillanou T; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Ariani F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
Source: Genes [Genes (Basel)] 2025 Nov 22; Vol. 16 (12). Date of Electronic Publication: 2025 Nov 22.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.
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  Data: <searchLink fieldCode="AU" term="%22Innamorato+S%22">Innamorato S</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Basso+SL%22">Basso SL</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Belakhdar+O%22">Belakhdar O</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Bruttini+M%22">Bruttini M</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Fallerini+C%22">Fallerini C</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Huseynli+H%22">Huseynli H</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Caccialupi+G%22">Caccialupi G</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Pasquinelli+E%22">Pasquinelli E</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Adduci+M%22">Adduci M</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Signori+G%22">Signori G</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Arcuri+F%22">Arcuri F</searchLink>; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Malagnino+V%22">Malagnino V</searchLink>; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Siciliano+MC%22">Siciliano MC</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Lazzi+S%22">Lazzi S</searchLink>; Unit of Pathological Anatomy, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Pesaresi+S%22">Pesaresi S</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Galimberti+D%22">Galimberti D</searchLink>; Unit of Pediatrics, Department of Maternal, Newborn and Child Health, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Galluzzi+P%22">Galluzzi P</searchLink>; Unit of NeuroImaging and NeuroIntervention, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22De+Francesco+S%22">De Francesco S</searchLink>; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Hadijstillanou+T%22">Hadijstillanou T</searchLink>; Unit of Ophthalmology, Department of Medicine, Surgery and Neuroscience, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Pinto+AM%22">Pinto AM</searchLink>; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Renieri+A%22">Renieri A</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.<br /><searchLink fieldCode="AU" term="%22Ariani+F%22">Ariani F</searchLink>; Medical Genetics, University of Siena, 53100 Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Center, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2025 Nov 22; Vol. 16 (12). <i>Date of Electronic Publication: </i>2025 Nov 22.
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