Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
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| Title: | Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. |
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| Authors: | Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA., Moore KJ; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., North KE; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Desrosiers TA; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Carmichael SL; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., White JJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Chong JX; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Bamshad MJ; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 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., Brody LC; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Freedman SF; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA., Reefhuis J; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Werler M; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.; Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, 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., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas, USA., Nembhard WN; Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Pangilinan F; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. |
| Corporate Authors: | National Institutes of Health Intramural Sequencing Center, University of Washington Center for Mendelian Genomics, National Birth Defects Prevention Study |
| Source: | Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2384. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38990107 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Blue+EE%22">Blue EE</searchLink>; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Moore+KJ%22">Moore KJ</searchLink>; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22North+KE%22">North KE</searchLink>; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Desrosiers+TA%22">Desrosiers TA</searchLink>; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Carmichael+SL%22">Carmichael SL</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22White+JJ%22">White JJ</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Chong+JX%22">Chong JX</searchLink>; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 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="%22Brody+LC%22">Brody LC</searchLink>; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Freedman+SF%22">Freedman SF</searchLink>; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, 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="%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="%22Shaw+GM%22">Shaw GM</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Werler+M%22">Werler M</searchLink>; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.; Slone Epidemiology Center at Boston University, Boston, Massachusetts, 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="%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="%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="%22Finnell+RH%22">Finnell RH</searchLink>; Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Nembhard+WN%22">Nembhard WN</searchLink>; Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.<br /><searchLink fieldCode="AU" term="%22Pangilinan+F%22">Pangilinan F</searchLink>; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Olshan+AF%22">Olshan AF</searchLink>; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22National+Institutes+of+Health+Intramural+Sequencing+Center%22">National Institutes of Health Intramural Sequencing Center</searchLink><br /><searchLink fieldCode="CA" term="%22University+of+Washington+Center+for+Mendelian+Genomics%22">University of Washington Center for Mendelian Genomics</searchLink><br /><searchLink fieldCode="CA" term="%22National+Birth+Defects+Prevention+Study%22">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] 2024 Jul; Vol. 116 (7), pp. e2384. – 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="%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 <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=38990107 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/bdr2.2384 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e2384 Titles: – TitleFull: Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Blue EE – PersonEntity: Name: NameFull: Moore KJ – PersonEntity: Name: NameFull: North KE – PersonEntity: Name: NameFull: Desrosiers TA – PersonEntity: Name: NameFull: Carmichael SL – PersonEntity: Name: NameFull: White JJ – PersonEntity: Name: NameFull: Chong JX – PersonEntity: Name: NameFull: Bamshad MJ – PersonEntity: Name: NameFull: Jenkins MM – PersonEntity: Name: NameFull: Almli LM – PersonEntity: Name: NameFull: Brody LC – PersonEntity: Name: NameFull: Freedman SF – PersonEntity: Name: NameFull: Reefhuis J – PersonEntity: Name: NameFull: Romitti PA – PersonEntity: Name: NameFull: Shaw GM – PersonEntity: Name: NameFull: Werler M – PersonEntity: Name: NameFull: Kay DM – PersonEntity: Name: NameFull: Browne ML – PersonEntity: Name: NameFull: Feldkamp ML – PersonEntity: Name: NameFull: Finnell RH – PersonEntity: Name: NameFull: Nembhard WN – PersonEntity: Name: NameFull: Pangilinan F – PersonEntity: Name: NameFull: Olshan AF IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2024 Jul Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 2472-1727 Numbering: – Type: volume Value: 116 – Type: issue Value: 7 Titles: – TitleFull: Birth defects research Type: main |
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