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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.

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Title: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Authors: Saglia C; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Bracciamà V; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Trotta L; GenomSys SA, Lausanne, Switzerland., Mioli F; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Faini AC; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Brach Del Prever GM; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Kalantari S; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Luca M; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Romeo CM; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Scolari C; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Peruzzi L; Pediatric Nephrology Dialysis and Transplantation Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy., Calvo PL; Pediatric Gastroenterology Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy., Mussa A; Pediatric Clinical Genetics, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy., Fenoglio R; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy., Roccatello D; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy., Alberti C; GenomSys SA, Lausanne, Switzerland., Carli D; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Amoroso A; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Deaglio S; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy., Vaisitti T; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy. tiziana.vaisitti@unito.it.; Department of Medical Sciences, University of Turin, Turin, Italy. tiziana.vaisitti@unito.it.
Source: BMC medical genomics [BMC Med Genomics] 2023 Nov 27; Vol. 16 (1), pp. 303. Date of Electronic Publication: 2023 Nov 27.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
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  Data: <searchLink fieldCode="AU" term="%22Saglia+C%22">Saglia C</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Bracciamà+V%22">Bracciamà V</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Trotta+L%22">Trotta L</searchLink>; GenomSys SA, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Mioli+F%22">Mioli F</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Faini+AC%22">Faini AC</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Brach+Del+Prever+GM%22">Brach Del Prever GM</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Kalantari+S%22">Kalantari S</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Luca+M%22">Luca M</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Romeo+CM%22">Romeo CM</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Scolari+C%22">Scolari C</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Peruzzi+L%22">Peruzzi L</searchLink>; Pediatric Nephrology Dialysis and Transplantation Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Calvo+PL%22">Calvo PL</searchLink>; Pediatric Gastroenterology Unit, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Pediatric Clinical Genetics, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Fenoglio+R%22">Fenoglio R</searchLink>; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Roccatello+D%22">Roccatello D</searchLink>; Nephrology and Dialysis Unit, Center of Research on Immunopathology and Rare Diseases, CMID, San Giovanni Bosco Hospital, Turin, Italy.; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Alberti+C%22">Alberti C</searchLink>; GenomSys SA, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Amoroso+A%22">Amoroso A</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Deaglio+S%22">Deaglio S</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Vaisitti+T%22">Vaisitti T</searchLink>; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Turin, Italy. tiziana.vaisitti@unito.it.; Department of Medical Sciences, University of Turin, Turin, Italy. tiziana.vaisitti@unito.it.
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  Data: <searchLink fieldCode="JN" term="%22101319628%22">BMC medical genomics</searchLink> [BMC Med Genomics] 2023 Nov 27; Vol. 16 (1), pp. 303. <i>Date of Electronic Publication: </i>2023 Nov 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101319628 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1755-8794 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217558794%22">17558794 </searchLink><i>NLM ISO Abbreviation: </i>BMC Med Genomics <i>Subsets: </i>MEDLINE
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