View in EDS

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.

Saved in:
Bibliographic Details
Title: Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Authors: Mansoorshahi S; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Yetman AT; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA., Bissell MM; Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK., Kim YY; Division of Cardiovascular Medicine, The Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Michelena HI; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., De Backer J; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Mosquera LM; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Hui DS; Department of Cardiothoracic Surgery, University of Texas Health Science Center, San Antonio, TX, USA., Caffarelli A; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, USA., Andreassi MG; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Foffa I; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy., Guo D; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Citro R; Cardiothoracic and Vascular Department, University Hospital 'San Giovanni di Dio e Ruggi d'Aragona,' Salerno, Italy., De Marco M; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy., Tretter JT; Cleveland Clinic, Cleveland, OH, USA., Morris SA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA., Body SC; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA., Prakash SK; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.
Corporate Authors: University of Washington Center for Rare Disease Research, BAVCon Investigators, EBAV Investigators
Source: American journal of human genetics [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2219-2231. Date of Electronic Publication: 2024 Sep 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39226896
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Mansoorshahi+S%22">Mansoorshahi S</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Yetman+AT%22">Yetman AT</searchLink>; Children's Hospital and Medical Center, University of Nebraska, Omaha, NE, USA.<br /><searchLink fieldCode="AU" term="%22Bissell+MM%22">Bissell MM</searchLink>; Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, UK.<br /><searchLink fieldCode="AU" term="%22Kim+YY%22">Kim YY</searchLink>; Division of Cardiovascular Medicine, The Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Michelena+HI%22">Michelena HI</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22De+Backer+J%22">De Backer J</searchLink>; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Mosquera+LM%22">Mosquera LM</searchLink>; Department of Cardiology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Hui+DS%22">Hui DS</searchLink>; Department of Cardiothoracic Surgery, University of Texas Health Science Center, San Antonio, TX, USA.<br /><searchLink fieldCode="AU" term="%22Caffarelli+A%22">Caffarelli A</searchLink>; Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Andreassi+MG%22">Andreassi MG</searchLink>; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Foffa+I%22">Foffa I</searchLink>; Consiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Guo+D%22">Guo D</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Citro+R%22">Citro R</searchLink>; Cardiothoracic and Vascular Department, University Hospital 'San Giovanni di Dio e Ruggi d'Aragona,' Salerno, Italy.<br /><searchLink fieldCode="AU" term="%22De+Marco+M%22">De Marco M</searchLink>; Department of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy.<br /><searchLink fieldCode="AU" term="%22Tretter+JT%22">Tretter JT</searchLink>; Cleveland Clinic, Cleveland, OH, USA.<br /><searchLink fieldCode="AU" term="%22Morris+SA%22">Morris SA</searchLink>; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Body+SC%22">Body SC</searchLink>; Department of Anesthesiology, Boston University School of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Chong+JX%22">Chong JX</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Bamshad+MJ%22">Bamshad MJ</searchLink>; Department of Pediatrics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Milewicz+DM%22">Milewicz DM</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Prakash+SK%22">Prakash SK</searchLink>; Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, TX, USA. Electronic address: siddharth.k.prakash@uth.tmc.edu.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22University+of+Washington+Center+for+Rare+Disease+Research%22">University of Washington Center for Rare Disease Research</searchLink><br /><searchLink fieldCode="CA" term="%22BAVCon+Investigators%22">BAVCon Investigators</searchLink><br /><searchLink fieldCode="CA" term="%22EBAV+Investigators%22">EBAV Investigators</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2024 Oct 03; Vol. 111 (10), pp. 2219-2231. <i>Date of Electronic Publication: </i>2024 Sep 02.
– 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="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39226896
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2024.08.001
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2219
    Titles:
      – TitleFull: Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mansoorshahi S
      – PersonEntity:
          Name:
            NameFull: Yetman AT
      – PersonEntity:
          Name:
            NameFull: Bissell MM
      – PersonEntity:
          Name:
            NameFull: Kim YY
      – PersonEntity:
          Name:
            NameFull: Michelena HI
      – PersonEntity:
          Name:
            NameFull: De Backer J
      – PersonEntity:
          Name:
            NameFull: Mosquera LM
      – PersonEntity:
          Name:
            NameFull: Hui DS
      – PersonEntity:
          Name:
            NameFull: Caffarelli A
      – PersonEntity:
          Name:
            NameFull: Andreassi MG
      – PersonEntity:
          Name:
            NameFull: Foffa I
      – PersonEntity:
          Name:
            NameFull: Guo D
      – PersonEntity:
          Name:
            NameFull: Citro R
      – PersonEntity:
          Name:
            NameFull: De Marco M
      – PersonEntity:
          Name:
            NameFull: Tretter JT
      – PersonEntity:
          Name:
            NameFull: Morris SA
      – PersonEntity:
          Name:
            NameFull: Body SC
      – PersonEntity:
          Name:
            NameFull: Chong JX
      – PersonEntity:
          Name:
            NameFull: Bamshad MJ
      – PersonEntity:
          Name:
            NameFull: Milewicz DM
      – PersonEntity:
          Name:
            NameFull: Prakash SK
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 03
              M: 10
              Text: 2024 Oct 03
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 111
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1