View in EDS HTML Full Text PDF Full Text

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Saved in:
Bibliographic Details
Title: Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Authors: Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sirr A; Pacific Northwest Research Institute, Seattle, WA, United States., AlAbdi L; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia., Lo RS; Pacific Northwest Research Institute, Seattle, WA, United States., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Qahtani M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Aboyousef O; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Kaya N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Salem MH; Pediatric Nephrology Service, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Al Harbi N; Pediatric Nephrology Service, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia., Aldhalaan HM; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Almanea HM; Anatomic Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsalamah AK; Vitreoretinal and Uveitis Divisions, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Al Mutairi F; Medical Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Ismail S; Human Genetics & Genome Research Division, Clinical Genetics Department, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Abdel-Salam GMH; Human Genetics & Genome Research Division, Clinical Genetics Department, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Alhashem A; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia., Asery A; Section of Pediatric Gastroenterology, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlQassmi A; Pediatric Neurology, King Saud Medical City, Riyadh, Saudi Arabia., Al-Hamoudi W; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Algoufi T; King Faisal Specialist Hospital and Research Center, Organ Transplant Centre, Riyadh, Saudi Arabia., Shagrani M; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Organ Transplant Centre, Riyadh, Saudi Arabia., Dudley AM; Pacific Northwest Research Institute, Seattle, WA, United States., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Source: Frontiers in genetics [Front Genet] 2020 Dec 31; Vol. 11, pp. 580484. Date of Electronic Publication: 2020 Dec 31 (Print Publication: 2020).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 33456446
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Maddirevula+S%22">Maddirevula S</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Shamseldin+HE%22">Shamseldin HE</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Sirr+A%22">Sirr A</searchLink>; Pacific Northwest Research Institute, Seattle, WA, United States.<br /><searchLink fieldCode="AU" term="%22AlAbdi+L%22">AlAbdi L</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Lo+RS%22">Lo RS</searchLink>; Pacific Northwest Research Institute, Seattle, WA, United States.<br /><searchLink fieldCode="AU" term="%22Ewida+N%22">Ewida N</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al-Qahtani+M%22">Al-Qahtani M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Hashem+M%22">Hashem M</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Abdulwahab+F%22">Abdulwahab F</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Aboyousef+O%22">Aboyousef O</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Kaya+N%22">Kaya N</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Monies+D%22">Monies D</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Salem+MH%22">Salem MH</searchLink>; Pediatric Nephrology Service, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al+Harbi+N%22">Al Harbi N</searchLink>; Pediatric Nephrology Service, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Aldhalaan+HM%22">Aldhalaan HM</searchLink>; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alzaidan+H%22">Alzaidan H</searchLink>; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Almanea+HM%22">Almanea HM</searchLink>; Anatomic Pathology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Alsalamah+AK%22">Alsalamah AK</searchLink>; Vitreoretinal and Uveitis Divisions, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al+Mutairi+F%22">Al Mutairi F</searchLink>; Medical Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ismail+S%22">Ismail S</searchLink>; Human Genetics & Genome Research Division, Clinical Genetics Department, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Salam+GMH%22">Abdel-Salam GMH</searchLink>; Human Genetics & Genome Research Division, Clinical Genetics Department, Center of Excellence of Human Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Alhashem+A%22">Alhashem A</searchLink>; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Asery+A%22">Asery A</searchLink>; Section of Pediatric Gastroenterology, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Faqeih+E%22">Faqeih E</searchLink>; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22AlQassmi+A%22">AlQassmi A</searchLink>; Pediatric Neurology, King Saud Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al-Hamoudi+W%22">Al-Hamoudi W</searchLink>; Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Algoufi+T%22">Algoufi T</searchLink>; King Faisal Specialist Hospital and Research Center, Organ Transplant Centre, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Shagrani+M%22">Shagrani M</searchLink>; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; King Faisal Specialist Hospital and Research Center, Organ Transplant Centre, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Dudley+AM%22">Dudley AM</searchLink>; Pacific Northwest Research Institute, Seattle, WA, United States.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2020 Dec 31; Vol. 11, pp. 580484. <i>Date of Electronic Publication: </i>2020 Dec 31 (<i>Print Publication: </i>2020).
– 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="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33456446
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3389/fgene.2020.580484
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 580484
    Titles:
      – TitleFull: Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Maddirevula S
      – PersonEntity:
          Name:
            NameFull: Shamseldin HE
      – PersonEntity:
          Name:
            NameFull: Sirr A
      – PersonEntity:
          Name:
            NameFull: AlAbdi L
      – PersonEntity:
          Name:
            NameFull: Lo RS
      – PersonEntity:
          Name:
            NameFull: Ewida N
      – PersonEntity:
          Name:
            NameFull: Al-Qahtani M
      – PersonEntity:
          Name:
            NameFull: Hashem M
      – PersonEntity:
          Name:
            NameFull: Abdulwahab F
      – PersonEntity:
          Name:
            NameFull: Aboyousef O
      – PersonEntity:
          Name:
            NameFull: Kaya N
      – PersonEntity:
          Name:
            NameFull: Monies D
      – PersonEntity:
          Name:
            NameFull: Salem MH
      – PersonEntity:
          Name:
            NameFull: Al Harbi N
      – PersonEntity:
          Name:
            NameFull: Aldhalaan HM
      – PersonEntity:
          Name:
            NameFull: Alzaidan H
      – PersonEntity:
          Name:
            NameFull: Almanea HM
      – PersonEntity:
          Name:
            NameFull: Alsalamah AK
      – PersonEntity:
          Name:
            NameFull: Al Mutairi F
      – PersonEntity:
          Name:
            NameFull: Ismail S
      – PersonEntity:
          Name:
            NameFull: Abdel-Salam GMH
      – PersonEntity:
          Name:
            NameFull: Alhashem A
      – PersonEntity:
          Name:
            NameFull: Asery A
      – PersonEntity:
          Name:
            NameFull: Faqeih E
      – PersonEntity:
          Name:
            NameFull: AlQassmi A
      – PersonEntity:
          Name:
            NameFull: Al-Hamoudi W
      – PersonEntity:
          Name:
            NameFull: Algoufi T
      – PersonEntity:
          Name:
            NameFull: Shagrani M
      – PersonEntity:
          Name:
            NameFull: Dudley AM
      – PersonEntity:
          Name:
            NameFull: Alkuraya FS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 31
              M: 12
              Text: 2020 Dec 31
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-print
              Value: 1664-8021
          Numbering:
            – Type: volume
              Value: 11
          Titles:
            – TitleFull: Frontiers in genetics
              Type: main
ResultId 1