Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
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| Title: | Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. |
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| Authors: | Sok P; Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Sabo A; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 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., Nembhard WN; Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Agopian AJ; Department of Epidemiology, Human Genetics, and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Blue EE; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA., Brody LC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Brown AL; Pediatrics, Baylor College of Medicine, Houston, Texas, 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., Canfield MA; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA., Carmichael SL; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Dugan-Perez S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Finnell RH; Department of Medicine, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Lei Y; Department of Medicine, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA., Meng Q; Human Genome Sequencing Center, 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., Mullikin JC; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina, Chapel Hill, North Carolina, USA., Pangilinan F; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 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, University of Iowa College of Public Health, Iowa City, Iowa, USA., Schraw JM; Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Werler MM; Department of Epidemiology, Boston University, Boston, Massachusetts, USA., Harpavat S; Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Houston, Texas, USA., Lupo PJ; Pediatrics, Baylor College of Medicine, Houston, Texas, USA. |
| Corporate Authors: | University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1546-1556. Date of Electronic Publication: 2023 Mar 21. |
| Publication Type: | Journal Article; Research Support, U.S. Gov't, P.H.S.; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36942736 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Sok+P%22">Sok P</searchLink>; Pediatrics, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Sabo+A%22">Sabo A</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 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="%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="%22Agopian+AJ%22">Agopian AJ</searchLink>; Department of Epidemiology, Human Genetics, and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Blue+EE%22">Blue EE</searchLink>; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, 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="%22Brown+AL%22">Brown AL</searchLink>; Pediatrics, Baylor College of Medicine, Houston, Texas, 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="%22Canfield+MA%22">Canfield MA</searchLink>; Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, 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="%22Chong+JX%22">Chong JX</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Dugan-Perez+S%22">Dugan-Perez S</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 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>; Department of Medicine, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Gibbs+RA%22">Gibbs RA</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 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="%22Lei+Y%22">Lei Y</searchLink>; Department of Medicine, Center for Precision Environmental Health, Baylor College of Medicine, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Meng+Q%22">Meng Q</searchLink>; Human Genome Sequencing Center, 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.<br /><searchLink fieldCode="AU" term="%22Mullikin+JC%22">Mullikin JC</searchLink>; Genetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Muzny+D%22">Muzny D</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 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="%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="%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, University of Iowa College of Public Health, Iowa City, Iowa, USA.<br /><searchLink fieldCode="AU" term="%22Schraw+JM%22">Schraw JM</searchLink>; Pediatrics, Baylor College of Medicine, Houston, Texas, 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, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Harpavat+S%22">Harpavat S</searchLink>; Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Gastroenterology, Hepatology and Nutrition, Texas Children's Hospital, Houston, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Lupo+PJ%22">Lupo PJ</searchLink>; Pediatrics, Baylor College of Medicine, Houston, Texas, 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="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 Jun; Vol. 191 (6), pp. 1546-1556. <i>Date of Electronic Publication: </i>2023 Mar 21. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, U.S. Gov't, P.H.S.; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36942736 |
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