View in EDS

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Saved in:
Bibliographic Details
Title: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
Authors: Arriaga TM; Department of Genetics, Stanford University, Stanford, CA, USA., Mendez R; Department of Medicine, Stanford University, Stanford, CA, USA., Ungar RA; Department of Genetics, Stanford University, Stanford, CA, USA; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA., Bonner DE; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA., Matalon DR; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Goddard PC; Department of Genetics, Stanford University, Stanford, CA, USA., Padhi EM; Department of Pathology, Stanford University, Stanford, CA, USA., Miller AM; Department of Pathology, Stanford University, Stanford, CA, USA., Nguyen JV; Department of Pathology, Stanford University, Stanford, CA, USA., Ma J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smith KS; Department of Pathology, Stanford University, Stanford, CA, USA., Scott SA; Department of Pathology, Stanford University, Stanford, CA, USA; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Liao L; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Ng Z; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA., Marwaha S; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Bademci G; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Bivona SA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Tekin M; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA., Montgomery SB; Department of Genetics, Stanford University, Stanford, CA, USA; Department of Pathology, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Wheeler MT; Department of Medicine, Stanford University, Stanford, CA, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: vganesh@bwh.harvard.edu.
Corporate Authors: Undiagnosed Diseases Network, Genomics Research to Elucidate the Genetics of Rare Diseases consortium
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2458-2475. Date of Electronic Publication: 2025 Sep 19.
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: 40975062
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Arriaga+TM%22">Arriaga TM</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Mendez+R%22">Mendez R</searchLink>; Department of Medicine, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ungar+RA%22">Ungar RA</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA; Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bonner+DE%22">Bonner DE</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Matalon+DR%22">Matalon DR</searchLink>; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lemire+G%22">Lemire G</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Goddard+PC%22">Goddard PC</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Padhi+EM%22">Padhi EM</searchLink>; Department of Pathology, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Miller+AM%22">Miller AM</searchLink>; Department of Pathology, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nguyen+JV%22">Nguyen JV</searchLink>; Department of Pathology, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ma+J%22">Ma J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Smith+KS%22">Smith KS</searchLink>; Department of Pathology, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Scott+SA%22">Scott SA</searchLink>; Department of Pathology, Stanford University, Stanford, CA, USA; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Liao+L%22">Liao L</searchLink>; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ng+Z%22">Ng Z</searchLink>; Clinical Genomics Laboratory, Stanford Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Marwaha+S%22">Marwaha S</searchLink>; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bademci+G%22">Bademci G</searchLink>; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Bivona+SA%22">Bivona SA</searchLink>; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Tekin+M%22">Tekin M</searchLink>; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Montgomery+SB%22">Montgomery SB</searchLink>; Department of Genetics, Stanford University, Stanford, CA, USA; Department of Pathology, Stanford University, Stanford, CA, USA; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wheeler+MT%22">Wheeler MT</searchLink>; Department of Medicine, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA. Electronic address: vganesh@bwh.harvard.edu.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22Undiagnosed+Diseases+Network%22">Undiagnosed Diseases Network</searchLink><br /><searchLink fieldCode="CA" term="%22Genomics+Research+to+Elucidate+the+Genetics+of+Rare+Diseases+consortium%22">Genomics Research to Elucidate the Genetics of Rare Diseases consortium</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2458-2475. <i>Date of Electronic Publication: </i>2025 Sep 19.
– 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=40975062
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2025.08.018
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2458
    Titles:
      – TitleFull: Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Arriaga TM
      – PersonEntity:
          Name:
            NameFull: Mendez R
      – PersonEntity:
          Name:
            NameFull: Ungar RA
      – PersonEntity:
          Name:
            NameFull: Bonner DE
      – PersonEntity:
          Name:
            NameFull: Matalon DR
      – PersonEntity:
          Name:
            NameFull: Lemire G
      – PersonEntity:
          Name:
            NameFull: Goddard PC
      – PersonEntity:
          Name:
            NameFull: Padhi EM
      – PersonEntity:
          Name:
            NameFull: Miller AM
      – PersonEntity:
          Name:
            NameFull: Nguyen JV
      – PersonEntity:
          Name:
            NameFull: Ma J
      – PersonEntity:
          Name:
            NameFull: Smith KS
      – PersonEntity:
          Name:
            NameFull: Scott SA
      – PersonEntity:
          Name:
            NameFull: Liao L
      – PersonEntity:
          Name:
            NameFull: Ng Z
      – PersonEntity:
          Name:
            NameFull: Marwaha S
      – PersonEntity:
          Name:
            NameFull: Bademci G
      – PersonEntity:
          Name:
            NameFull: Bivona SA
      – PersonEntity:
          Name:
            NameFull: Tekin M
      – PersonEntity:
          Name:
            NameFull: Bernstein JA
      – PersonEntity:
          Name:
            NameFull: Montgomery SB
      – PersonEntity:
          Name:
            NameFull: O'Donnell-Luria A
      – PersonEntity:
          Name:
            NameFull: Wheeler MT
      – PersonEntity:
          Name:
            NameFull: Ganesh VS
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 02
              M: 10
              Text: 2025 Oct 02
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 112
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1