View in EDS HTML Full Text PDF Full Text

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Saved in:
Bibliographic Details
Title: Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.
Authors: Shokouhian E; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Moslemi M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Moghadam MG; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Molaei N; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Alagha P; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Reshadmanesh A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Ghodratpour F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Celik M; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey., Kadioglu IS; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey., Edizadeh M; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey., Akbari MR; Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada, utoronto.ca., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.
Source: Human mutation [Hum Mutat] 2026 Jul 01; Vol. 2026, pp. 4623457. Date of Electronic Publication: 2026 Jul 01 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42388363
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Shokouhian+E%22">Shokouhian E</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Moslemi+M%22">Moslemi M</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Moghadam+MG%22">Moghadam MG</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Molaei+N%22">Molaei N</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Alagha+P%22">Alagha P</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Reshadmanesh+A%22">Reshadmanesh A</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Arzhangi+S%22">Arzhangi S</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Ghodratpour+F%22">Ghodratpour F</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Celik+M%22">Celik M</searchLink>; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Kadioglu+IS%22">Kadioglu IS</searchLink>; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Edizadeh+M%22">Edizadeh M</searchLink>; Department of Bioinformatics, Genoks Genetic Diagnosis Center, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Akbari+MR%22">Akbari MR</searchLink>; Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada, utoronto.ca.<br /><searchLink fieldCode="AU" term="%22Kahrizi+K%22">Kahrizi K</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.<br /><searchLink fieldCode="AU" term="%22Najmabadi+H%22">Najmabadi H</searchLink>; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran, uswr.ac.ir.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2026 Jul 01; Vol. 2026, pp. 4623457. <i>Date of Electronic Publication: </i>2026 Jul 01 (<i>Print Publication: </i>2026).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42388363
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1155/humu/4623457
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 4623457
    Titles:
      – TitleFull: Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Shokouhian E
      – PersonEntity:
          Name:
            NameFull: Moslemi M
      – PersonEntity:
          Name:
            NameFull: Moghadam MG
      – PersonEntity:
          Name:
            NameFull: Molaei N
      – PersonEntity:
          Name:
            NameFull: Alagha P
      – PersonEntity:
          Name:
            NameFull: Reshadmanesh A
      – PersonEntity:
          Name:
            NameFull: Arzhangi S
      – PersonEntity:
          Name:
            NameFull: Ghodratpour F
      – PersonEntity:
          Name:
            NameFull: Celik M
      – PersonEntity:
          Name:
            NameFull: Kadioglu IS
      – PersonEntity:
          Name:
            NameFull: Edizadeh M
      – PersonEntity:
          Name:
            NameFull: Akbari MR
      – PersonEntity:
          Name:
            NameFull: Kahrizi K
      – PersonEntity:
          Name:
            NameFull: Najmabadi H
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2026 Jul 01
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 2026
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1