Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Saved in:
Bibliographic Details
Title: Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Authors: Hughes EE; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Stevens CF; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Saavedra-Matiz CA; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Tavakoli NP; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.; Department of Biomedical Sciences, School of Public Health, State University of New York, Albany, New York., Krein LM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Parker A; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Zhang Z; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York., Maloney B; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Vogel B; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., DeCelie-Germana J; Cohen Children's Medical Center of New York, Great Neck, New York., Kier C; University Medical Center at Stony Brook, Stony Brook, New York., Anbar RD; SUNY Upstate Medical University/Golisano Children's Hospital, Syracuse, New York., Berdella MN; The Cystic Fibrosis Center, Mount Sinai Beth Israel, New York, New York., Comber PG; Albany Medical Center, Albany, New York., Dozor AJ; Maria Fareri Children's Hospital at Westchester Medical Center and New York Medical College, Valhalla, New York., Goetz DM; Women & Children's Hospital of Buffalo, Buffalo, New York., Guida L Jr; Good Samaritan Hospital, North Babylon, New York., Kattan M; Columbia University Medical Center, New York, New York., Ting A; Mount Sinai School of Medicine, New York, New York., Voter KZ; Strong Memorial Hospital, University of Rochester Medical Center, Rochester, New York., van Roey P; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York., Caggana M; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Corporate Authors: New York State Cystic Fibrosis Newborn Screening Consortium
Source: Human mutation [Hum Mutat] 2016 Feb; Vol. 37 (2), pp. 201-8. Date of Electronic Publication: 2015 Dec 02.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 26538069
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Hughes+EE%22">Hughes EE</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Stevens+CF%22">Stevens CF</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Saavedra-Matiz+CA%22">Saavedra-Matiz CA</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Tavakoli+NP%22">Tavakoli NP</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.; Department of Biomedical Sciences, School of Public Health, State University of New York, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Krein+LM%22">Krein LM</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Parker+A%22">Parker A</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Zhang+Z%22">Zhang Z</searchLink>; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Maloney+B%22">Maloney B</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Vogel+B%22">Vogel B</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22DeCelie-Germana+J%22">DeCelie-Germana J</searchLink>; Cohen Children's Medical Center of New York, Great Neck, New York.<br /><searchLink fieldCode="AU" term="%22Kier+C%22">Kier C</searchLink>; University Medical Center at Stony Brook, Stony Brook, New York.<br /><searchLink fieldCode="AU" term="%22Anbar+RD%22">Anbar RD</searchLink>; SUNY Upstate Medical University/Golisano Children's Hospital, Syracuse, New York.<br /><searchLink fieldCode="AU" term="%22Berdella+MN%22">Berdella MN</searchLink>; The Cystic Fibrosis Center, Mount Sinai Beth Israel, New York, New York.<br /><searchLink fieldCode="AU" term="%22Comber+PG%22">Comber PG</searchLink>; Albany Medical Center, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Dozor+AJ%22">Dozor AJ</searchLink>; Maria Fareri Children's Hospital at Westchester Medical Center and New York Medical College, Valhalla, New York.<br /><searchLink fieldCode="AU" term="%22Goetz+DM%22">Goetz DM</searchLink>; Women & Children's Hospital of Buffalo, Buffalo, New York.<br /><searchLink fieldCode="AU" term="%22Guida+L+Jr%22">Guida L Jr</searchLink>; Good Samaritan Hospital, North Babylon, New York.<br /><searchLink fieldCode="AU" term="%22Kattan+M%22">Kattan M</searchLink>; Columbia University Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Ting+A%22">Ting A</searchLink>; Mount Sinai School of Medicine, New York, New York.<br /><searchLink fieldCode="AU" term="%22Voter+KZ%22">Voter KZ</searchLink>; Strong Memorial Hospital, University of Rochester Medical Center, Rochester, New York.<br /><searchLink fieldCode="AU" term="%22van+Roey+P%22">van Roey P</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.; Applied Genomics Technologies Core, Wadsworth Center, New York State Department of Health, Albany, New York.<br /><searchLink fieldCode="AU" term="%22Caggana+M%22">Caggana M</searchLink>; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.<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.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22New+York+State+Cystic+Fibrosis+Newborn+Screening+Consortium%22">New York State Cystic Fibrosis Newborn Screening Consortium</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2016 Feb; Vol. 37 (2), pp. 201-8. <i>Date of Electronic Publication: </i>2015 Dec 02.
– 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>Print-Electronic <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=26538069
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/humu.22927
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 201
    Titles:
      – TitleFull: Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Hughes EE
      – PersonEntity:
          Name:
            NameFull: Stevens CF
      – PersonEntity:
          Name:
            NameFull: Saavedra-Matiz CA
      – PersonEntity:
          Name:
            NameFull: Tavakoli NP
      – PersonEntity:
          Name:
            NameFull: Krein LM
      – PersonEntity:
          Name:
            NameFull: Parker A
      – PersonEntity:
          Name:
            NameFull: Zhang Z
      – PersonEntity:
          Name:
            NameFull: Maloney B
      – PersonEntity:
          Name:
            NameFull: Vogel B
      – PersonEntity:
          Name:
            NameFull: DeCelie-Germana J
      – PersonEntity:
          Name:
            NameFull: Kier C
      – PersonEntity:
          Name:
            NameFull: Anbar RD
      – PersonEntity:
          Name:
            NameFull: Berdella MN
      – PersonEntity:
          Name:
            NameFull: Comber PG
      – PersonEntity:
          Name:
            NameFull: Dozor AJ
      – PersonEntity:
          Name:
            NameFull: Goetz DM
      – PersonEntity:
          Name:
            NameFull: Guida L Jr
      – PersonEntity:
          Name:
            NameFull: Kattan M
      – PersonEntity:
          Name:
            NameFull: Ting A
      – PersonEntity:
          Name:
            NameFull: Voter KZ
      – PersonEntity:
          Name:
            NameFull: van Roey P
      – PersonEntity:
          Name:
            NameFull: Caggana M
      – PersonEntity:
          Name:
            NameFull: Kay DM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2016 Feb
              Type: published
              Y: 2016
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 37
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1