View in EDS HTML Full Text PDF Full Text

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

Saved in:
Bibliographic Details
Title: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Authors: Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Blohm ME; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Singer D; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Perez A; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Obi N; Department of Medical Biometrics/Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Deindl P; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Source: Neonatology [Neonatology] 2021; Vol. 118 (4), pp. 454-461. Date of Electronic Publication: 2021 Jul 08.
Publication Type: Journal Article
Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology 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: 34237744
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Scholz+T%22">Scholz T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Blohm+ME%22">Blohm ME</searchLink>; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kortüm+F%22">Kortüm F</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bierhals+T%22">Bierhals T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lessel+D%22">Lessel D</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22van+der+Ven+AT%22">van der Ven AT</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Lisfeld+J%22">Lisfeld J</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Herget+T%22">Herget T</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kloth+K%22">Kloth K</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Singer+D%22">Singer D</searchLink>; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Perez+A%22">Perez A</searchLink>; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Obi+N%22">Obi N</searchLink>; Department of Medical Biometrics/Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Johannsen+J%22">Johannsen J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Denecke+J%22">Denecke J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Santer+R%22">Santer R</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kubisch+C%22">Kubisch C</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Deindl+P%22">Deindl P</searchLink>; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hempel+M%22">Hempel M</searchLink>; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101286577%22">Neonatology</searchLink> [Neonatology] 2021; Vol. 118 (4), pp. 454-461. <i>Date of Electronic Publication: </i>2021 Jul 08.
– 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="%22Karger%22">Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101286577 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1661-7819 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216617800%22">16617800 </searchLink><i>NLM ISO Abbreviation: </i>Neonatology <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34237744
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1159/000516890
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 454
    Titles:
      – TitleFull: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Scholz T
      – PersonEntity:
          Name:
            NameFull: Blohm ME
      – PersonEntity:
          Name:
            NameFull: Kortüm F
      – PersonEntity:
          Name:
            NameFull: Bierhals T
      – PersonEntity:
          Name:
            NameFull: Lessel D
      – PersonEntity:
          Name:
            NameFull: van der Ven AT
      – PersonEntity:
          Name:
            NameFull: Lisfeld J
      – PersonEntity:
          Name:
            NameFull: Herget T
      – PersonEntity:
          Name:
            NameFull: Kloth K
      – PersonEntity:
          Name:
            NameFull: Singer D
      – PersonEntity:
          Name:
            NameFull: Perez A
      – PersonEntity:
          Name:
            NameFull: Obi N
      – PersonEntity:
          Name:
            NameFull: Johannsen J
      – PersonEntity:
          Name:
            NameFull: Denecke J
      – PersonEntity:
          Name:
            NameFull: Santer R
      – PersonEntity:
          Name:
            NameFull: Kubisch C
      – PersonEntity:
          Name:
            NameFull: Deindl P
      – PersonEntity:
          Name:
            NameFull: Hempel M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2021
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1661-7819
          Numbering:
            – Type: volume
              Value: 118
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: Neonatology
              Type: main
ResultId 1