View in EDS HTML Full Text PDF Full Text

Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.

Saved in:
Bibliographic Details
Title: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Authors: El Chehadeh, Salima1,2 (AUTHOR), Heide, Solveig3 (AUTHOR), Quélin, Chloé4 (AUTHOR), Rio, Marlène5,6 (AUTHOR), Margot, Henri7,8 (AUTHOR), Geneviève, David9,10 (AUTHOR), Isidor, Bertrand11,12 (AUTHOR), Goldenberg, Alice13,14 (AUTHOR), Guégan, Caroline13,14 (AUTHOR), Lesca, Gaëtan15,16 (AUTHOR), Willems, Marjolaine9,10 (AUTHOR), Ormières, Clothilde5,6 (AUTHOR), Caumes, Roseline17 (AUTHOR), Busa, Tiffany18 (AUTHOR), Bonneau, Dominique19 (AUTHOR), Guerrot, Anne-Marie13,14 (AUTHOR), Marey, Isabelle20,21 (AUTHOR), Vera, Gabriella13,14 (AUTHOR), Marzin, Pauline5,6 (AUTHOR), Philippe, Anaïs1 (AUTHOR)
Source: Genome Medicine. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.
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: 188475477
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22El+Chehadeh%2C+Salima%22">El Chehadeh, Salima</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Heide%2C+Solveig%22">Heide, Solveig</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Quélin%2C+Chloé%22">Quélin, Chloé</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rio%2C+Marlène%22">Rio, Marlène</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Margot%2C+Henri%22">Margot, Henri</searchLink><relatesTo>7,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Geneviève%2C+David%22">Geneviève, David</searchLink><relatesTo>9,10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Isidor%2C+Bertrand%22">Isidor, Bertrand</searchLink><relatesTo>11,12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Goldenberg%2C+Alice%22">Goldenberg, Alice</searchLink><relatesTo>13,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guégan%2C+Caroline%22">Guégan, Caroline</searchLink><relatesTo>13,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lesca%2C+Gaëtan%22">Lesca, Gaëtan</searchLink><relatesTo>15,16</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Willems%2C+Marjolaine%22">Willems, Marjolaine</searchLink><relatesTo>9,10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ormières%2C+Clothilde%22">Ormières, Clothilde</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Caumes%2C+Roseline%22">Caumes, Roseline</searchLink><relatesTo>17</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Busa%2C+Tiffany%22">Busa, Tiffany</searchLink><relatesTo>18</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonneau%2C+Dominique%22">Bonneau, Dominique</searchLink><relatesTo>19</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guerrot%2C+Anne-Marie%22">Guerrot, Anne-Marie</searchLink><relatesTo>13,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Marey%2C+Isabelle%22">Marey, Isabelle</searchLink><relatesTo>20,21</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vera%2C+Gabriella%22">Vera, Gabriella</searchLink><relatesTo>13,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Marzin%2C+Pauline%22">Marzin, Pauline</searchLink><relatesTo>5,6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Philippe%2C+Anaïs%22">Philippe, Anaïs</searchLink><relatesTo>1</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 10/3/2025, Vol. 17 Issue 1, p1-28. 28p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=188475477
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13073-025-01527-4
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 28
        StartPage: 1
    Titles:
      – TitleFull: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: El Chehadeh, Salima
      – PersonEntity:
          Name:
            NameFull: Heide, Solveig
      – PersonEntity:
          Name:
            NameFull: Quélin, Chloé
      – PersonEntity:
          Name:
            NameFull: Rio, Marlène
      – PersonEntity:
          Name:
            NameFull: Margot, Henri
      – PersonEntity:
          Name:
            NameFull: Geneviève, David
      – PersonEntity:
          Name:
            NameFull: Isidor, Bertrand
      – PersonEntity:
          Name:
            NameFull: Goldenberg, Alice
      – PersonEntity:
          Name:
            NameFull: Guégan, Caroline
      – PersonEntity:
          Name:
            NameFull: Lesca, Gaëtan
      – PersonEntity:
          Name:
            NameFull: Willems, Marjolaine
      – PersonEntity:
          Name:
            NameFull: Ormières, Clothilde
      – PersonEntity:
          Name:
            NameFull: Caumes, Roseline
      – PersonEntity:
          Name:
            NameFull: Busa, Tiffany
      – PersonEntity:
          Name:
            NameFull: Bonneau, Dominique
      – PersonEntity:
          Name:
            NameFull: Guerrot, Anne-Marie
      – PersonEntity:
          Name:
            NameFull: Marey, Isabelle
      – PersonEntity:
          Name:
            NameFull: Vera, Gabriella
      – PersonEntity:
          Name:
            NameFull: Marzin, Pauline
      – PersonEntity:
          Name:
            NameFull: Philippe, Anaïs
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 10
              Text: 10/3/2025
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-print
              Value: 1756994X
          Numbering:
            – Type: volume
              Value: 17
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome Medicine
              Type: main
ResultId 1