View in EDS HTML Full Text PDF Full Text

Exome sequencing identifies variants in infants with sacral agenesis.

Saved in:
Bibliographic Details
Title: Exome sequencing identifies variants in infants with sacral agenesis.
Authors: Pitsava G; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Lane J; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Conway KM; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Hobbs C; Rady Children's Institute for Genomic Medicine, California, USA., Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Reefhuis J; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Almli LM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Moore C; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Werler M; Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA.; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA., Browne ML; New York State Department of Health, Birth Defects Registry, Albany, New York, USA.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York, USA., Cunniff C; Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, Chapel Hill, North Carolina, USA., Pangilinan F; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Brody LC; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA., Sicko RJ; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Finnell RH; Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA., McGoldrick D; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Mullikin JC; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Mills JL; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Corporate Authors: UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study
Source: Birth defects research [Birth Defects Res] 2022 Apr; Vol. 114 (7), pp. 215-227. Date of Electronic Publication: 2022 Mar 10.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res 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: 35274497
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Exome sequencing identifies variants in infants with sacral agenesis.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Pitsava+G%22">Pitsava G</searchLink>; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Feldkamp+ML%22">Feldkamp ML</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Pankratz+N%22">Pankratz N</searchLink>; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Lane+J%22">Lane J</searchLink>; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Kay+DM%22">Kay DM</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.<br /><searchLink fieldCode="AU" term="%22Conway+KM%22">Conway KM</searchLink>; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Hobbs+C%22">Hobbs C</searchLink>; Rady Children's Institute for Genomic Medicine, California, USA.<br /><searchLink fieldCode="AU" term="%22Shaw+GM%22">Shaw GM</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Reefhuis+J%22">Reefhuis J</searchLink>; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Jenkins+MM%22">Jenkins MM</searchLink>; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Almli+LM%22">Almli LM</searchLink>; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Moore+C%22">Moore C</searchLink>; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Werler+M%22">Werler M</searchLink>; Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA.; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Browne+ML%22">Browne ML</searchLink>; New York State Department of Health, Birth Defects Registry, Albany, New York, USA.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York, USA.<br /><searchLink fieldCode="AU" term="%22Cunniff+C%22">Cunniff C</searchLink>; Department of Pediatrics, Weill Cornell Medical College, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Olshan+AF%22">Olshan AF</searchLink>; Department of Epidemiology, Gillings School of Global Public Health, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Pangilinan+F%22">Pangilinan F</searchLink>; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Brody+LC%22">Brody LC</searchLink>; Gene and Environment Interaction Section, National Human Genome Research Institute, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Sicko+RJ%22">Sicko RJ</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.<br /><searchLink fieldCode="AU" term="%22Finnell+RH%22">Finnell RH</searchLink>; Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22McGoldrick+D%22">McGoldrick D</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Nickerson+DA%22">Nickerson DA</searchLink>; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Mullikin+JC%22">Mullikin JC</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Romitti+PA%22">Romitti PA</searchLink>; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Mills+JL%22">Mills JL</searchLink>; Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22UW+Center+for+Mendelian+Genomics%2C+NISC+Comparative+Sequencing+Program+and+the+National+Birth+Defects+Prevention+Study%22">UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101701004%22">Birth defects research</searchLink> [Birth Defects Res] 2022 Apr; Vol. 114 (7), pp. 215-227. <i>Date of Electronic Publication: </i>2022 Mar 10.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101701004 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2472-1727 (Electronic) <i>NLM ISO Abbreviation: </i>Birth Defects Res <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35274497
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/bdr2.1987
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 215
    Titles:
      – TitleFull: Exome sequencing identifies variants in infants with sacral agenesis.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Pitsava G
      – PersonEntity:
          Name:
            NameFull: Feldkamp ML
      – PersonEntity:
          Name:
            NameFull: Pankratz N
      – PersonEntity:
          Name:
            NameFull: Lane J
      – PersonEntity:
          Name:
            NameFull: Kay DM
      – PersonEntity:
          Name:
            NameFull: Conway KM
      – PersonEntity:
          Name:
            NameFull: Hobbs C
      – PersonEntity:
          Name:
            NameFull: Shaw GM
      – PersonEntity:
          Name:
            NameFull: Reefhuis J
      – PersonEntity:
          Name:
            NameFull: Jenkins MM
      – PersonEntity:
          Name:
            NameFull: Almli LM
      – PersonEntity:
          Name:
            NameFull: Moore C
      – PersonEntity:
          Name:
            NameFull: Werler M
      – PersonEntity:
          Name:
            NameFull: Browne ML
      – PersonEntity:
          Name:
            NameFull: Cunniff C
      – PersonEntity:
          Name:
            NameFull: Olshan AF
      – PersonEntity:
          Name:
            NameFull: Pangilinan F
      – PersonEntity:
          Name:
            NameFull: Brody LC
      – PersonEntity:
          Name:
            NameFull: Sicko RJ
      – PersonEntity:
          Name:
            NameFull: Finnell RH
      – PersonEntity:
          Name:
            NameFull: Bamshad MJ
      – PersonEntity:
          Name:
            NameFull: McGoldrick D
      – PersonEntity:
          Name:
            NameFull: Nickerson DA
      – PersonEntity:
          Name:
            NameFull: Mullikin JC
      – PersonEntity:
          Name:
            NameFull: Romitti PA
      – PersonEntity:
          Name:
            NameFull: Mills JL
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2022 Apr
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 2472-1727
          Numbering:
            – Type: volume
              Value: 114
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Birth defects research
              Type: main
ResultId 1