Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.
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| Title: | Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study. |
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| Authors: | Carter TC; Center for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Pangilinan F; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Almli LM; 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., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Sok P; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., White JJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Cunniff CM; Department of Pediatrics, Weill Cornell Medical Center, New York, New York, USA., Agopian AJ; Department of Epidemiology, Human Genetics Center, University of Texas School of Public Health, Houston, Texas, USA., Bamshad MJ; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA., Brody LC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gucsavas-Calikoglu M; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA., Chong JX; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Gomez-Acevedo H; Department of Biomedical Informatics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Lupo PJ; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., Moore CA; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.; Goldbelt Professional Services LLC, Chesapeake, Virginia, USA., Nembhard WN; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Olney RS; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA., Orloff MS; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 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 MM; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA., Yazdy MM; Massachusetts Department of Public Health, Boston, Massachusetts, USA., Browne ML; Birth Defects Registry, New York State Department of Health, Albany, New York, USA.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York, USA., Howley MM; Birth Defects Registry, New York State Department of Health, Albany, New York, USA.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York, USA. |
| Corporate Authors: | University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study |
| Source: | Birth defects research [Birth Defects Res] 2025 May; Vol. 117 (5), pp. e2472. |
| 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: 40304391 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Carter+TC%22">Carter TC</searchLink>; Center for Precision Medicine Research, Marshfield Clinic Research Institute, Marshfield, Wisconsin, 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="%22Pangilinan+F%22">Pangilinan F</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 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="%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="%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="%22Sok+P%22">Sok P</searchLink>; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22White+JJ%22">White JJ</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Cunniff+CM%22">Cunniff CM</searchLink>; Department of Pediatrics, Weill Cornell Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Agopian+AJ%22">Agopian AJ</searchLink>; Department of Epidemiology, Human Genetics Center, University of Texas School of Public Health, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Botto+LD%22">Botto LD</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.<br /><searchLink fieldCode="AU" term="%22Brody+LC%22">Brody LC</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gucsavas-Calikoglu+M%22">Gucsavas-Calikoglu M</searchLink>; Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Chong+JX%22">Chong JX</searchLink>; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Gomez-Acevedo+H%22">Gomez-Acevedo H</searchLink>; Department of Biomedical Informatics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.<br /><searchLink fieldCode="AU" term="%22Lupo+PJ%22">Lupo PJ</searchLink>; Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Moore+CA%22">Moore CA</searchLink>; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.; Goldbelt Professional Services LLC, Chesapeake, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Nembhard+WN%22">Nembhard WN</searchLink>; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.<br /><searchLink fieldCode="AU" term="%22Olney+RS%22">Olney RS</searchLink>; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, 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, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Orloff+MS%22">Orloff MS</searchLink>; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, 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+MM%22">Werler MM</searchLink>; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Yazdy+MM%22">Yazdy MM</searchLink>; Massachusetts Department of Public Health, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Browne+ML%22">Browne ML</searchLink>; Birth Defects Registry, New York State Department of Health, Albany, New York, USA.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York, USA.<br /><searchLink fieldCode="AU" term="%22Howley+MM%22">Howley MM</searchLink>; Birth Defects Registry, New York State Department of Health, Albany, New York, USA.; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, New York, USA. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22University+of+Washington+Center+for+Mendelian+Genomics%2C+NISC+Comparative+Sequencing+Program%2C+the+National+Birth+Defects+Prevention+Study%22">University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, 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] 2025 May; Vol. 117 (5), pp. e2472. – 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=40304391 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/bdr2.2472 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e2472 Titles: – TitleFull: Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Carter TC – PersonEntity: Name: NameFull: Kay DM – PersonEntity: Name: NameFull: Pangilinan F – PersonEntity: Name: NameFull: Almli LM – PersonEntity: Name: NameFull: Jenkins MM – PersonEntity: Name: NameFull: Blue EE – PersonEntity: Name: NameFull: Sok P – PersonEntity: Name: NameFull: White JJ – PersonEntity: Name: NameFull: Cunniff CM – PersonEntity: Name: NameFull: Agopian AJ – PersonEntity: Name: NameFull: Bamshad MJ – PersonEntity: Name: NameFull: Botto LD – PersonEntity: Name: NameFull: Brody LC – PersonEntity: Name: NameFull: Gucsavas-Calikoglu M – PersonEntity: Name: NameFull: Chong JX – PersonEntity: Name: NameFull: Gomez-Acevedo H – PersonEntity: Name: NameFull: Lupo PJ – PersonEntity: Name: NameFull: Moore CA – PersonEntity: Name: NameFull: Nembhard WN – PersonEntity: Name: NameFull: Olney RS – PersonEntity: Name: NameFull: Olshan AF – PersonEntity: Name: NameFull: Orloff MS – PersonEntity: Name: NameFull: Reefhuis J – PersonEntity: Name: NameFull: Romitti PA – PersonEntity: Name: NameFull: Shaw GM – PersonEntity: Name: NameFull: Werler MM – PersonEntity: Name: NameFull: Yazdy MM – PersonEntity: Name: NameFull: Browne ML – PersonEntity: Name: NameFull: Howley MM IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2025 May Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 2472-1727 Numbering: – Type: volume Value: 117 – Type: issue Value: 5 Titles: – TitleFull: Birth defects research Type: main |
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