View in EDS HTML Full Text PDF Full Text

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

Saved in:
Bibliographic Details
Title: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
Authors: Saglia, Claudia1,2 (AUTHOR), Bracciamà, Valeria1,2 (AUTHOR), Trotta, Luca3 (AUTHOR), Mioli, Fiorenza1,2 (AUTHOR), Faini, Angelo Corso1,2 (AUTHOR), Brach Del Prever, Giulia Margherita1,2 (AUTHOR), Kalantari, Silvia1,2 (AUTHOR), Luca, Maria1,2 (AUTHOR), Romeo, Carmelo Maria1,2 (AUTHOR), Scolari, Caterina1,2 (AUTHOR), Peruzzi, Licia4 (AUTHOR), Calvo, Pier Luigi5 (AUTHOR), Mussa, Alessandro6,7 (AUTHOR), Fenoglio, Roberta8,9 (AUTHOR), Roccatello, Dario8,9 (AUTHOR), Alberti, Claudio3 (AUTHOR), Carli, Diana1,2 (AUTHOR), Amoroso, Antonio1,2 (AUTHOR), Deaglio, Silvia1,2 (AUTHOR), Vaisitti, Tiziana1,2 (AUTHOR) tiziana.vaisitti@unito.it
Source: BMC Medical Genomics. 11/27/2023, Vol. 16 Issue 1, p1-13. 13p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 173850645
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Saglia%2C+Claudia%22">Saglia, Claudia</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bracciamà%2C+Valeria%22">Bracciamà, Valeria</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Trotta%2C+Luca%22">Trotta, Luca</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mioli%2C+Fiorenza%22">Mioli, Fiorenza</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Faini%2C+Angelo+Corso%22">Faini, Angelo Corso</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Brach+Del+Prever%2C+Giulia+Margherita%22">Brach Del Prever, Giulia Margherita</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kalantari%2C+Silvia%22">Kalantari, Silvia</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Luca%2C+Maria%22">Luca, Maria</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Romeo%2C+Carmelo+Maria%22">Romeo, Carmelo Maria</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scolari%2C+Caterina%22">Scolari, Caterina</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Peruzzi%2C+Licia%22">Peruzzi, Licia</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Calvo%2C+Pier+Luigi%22">Calvo, Pier Luigi</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mussa%2C+Alessandro%22">Mussa, Alessandro</searchLink><relatesTo>6,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fenoglio%2C+Roberta%22">Fenoglio, Roberta</searchLink><relatesTo>8,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Roccatello%2C+Dario%22">Roccatello, Dario</searchLink><relatesTo>8,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Alberti%2C+Claudio%22">Alberti, Claudio</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Carli%2C+Diana%22">Carli, Diana</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Amoroso%2C+Antonio%22">Amoroso, Antonio</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Deaglio%2C+Silvia%22">Deaglio, Silvia</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vaisitti%2C+Tiziana%22">Vaisitti, Tiziana</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> tiziana.vaisitti@unito.it</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genomics%22">BMC Medical Genomics</searchLink>. 11/27/2023, Vol. 16 Issue 1, p1-13. 13p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=173850645
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s12920-023-01747-w
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 13
        StartPage: 1
    Titles:
      – TitleFull: Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Saglia, Claudia
      – PersonEntity:
          Name:
            NameFull: Bracciamà, Valeria
      – PersonEntity:
          Name:
            NameFull: Trotta, Luca
      – PersonEntity:
          Name:
            NameFull: Mioli, Fiorenza
      – PersonEntity:
          Name:
            NameFull: Faini, Angelo Corso
      – PersonEntity:
          Name:
            NameFull: Brach Del Prever, Giulia Margherita
      – PersonEntity:
          Name:
            NameFull: Kalantari, Silvia
      – PersonEntity:
          Name:
            NameFull: Luca, Maria
      – PersonEntity:
          Name:
            NameFull: Romeo, Carmelo Maria
      – PersonEntity:
          Name:
            NameFull: Scolari, Caterina
      – PersonEntity:
          Name:
            NameFull: Peruzzi, Licia
      – PersonEntity:
          Name:
            NameFull: Calvo, Pier Luigi
      – PersonEntity:
          Name:
            NameFull: Mussa, Alessandro
      – PersonEntity:
          Name:
            NameFull: Fenoglio, Roberta
      – PersonEntity:
          Name:
            NameFull: Roccatello, Dario
      – PersonEntity:
          Name:
            NameFull: Alberti, Claudio
      – PersonEntity:
          Name:
            NameFull: Carli, Diana
      – PersonEntity:
          Name:
            NameFull: Amoroso, Antonio
      – PersonEntity:
          Name:
            NameFull: Deaglio, Silvia
      – PersonEntity:
          Name:
            NameFull: Vaisitti, Tiziana
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 27
              M: 11
              Text: 11/27/2023
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 17558794
          Numbering:
            – Type: volume
              Value: 16
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: BMC Medical Genomics
              Type: main
ResultId 1