The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Saved in:
Bibliographic Details
Title: The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Authors: Miller MJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Duque Lasio ML; Department of Pediatrics and Department of Pathology, Washington University School of Medicine, St. Louis, MO., Kennedy AD; Metabolon Inc, Durham, NC., McClellan R; Johns Hopkins Center for Inherited Heart Diseases, Baltimore, MD; Neurogenetics, Kennedy Krieger Institute, Baltimore, MD., Oglesbee D; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Smith WE; Department of Pediatrics, Maine Medical Center, Portland, ME., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Cowan T; Department of Pathology, Stanford University Medical Center, Stanford, CA.
Corporate Authors: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101493. Date of Electronic Publication: 2025 Jul 18.
Publication Type: Journal Article; Practice Guideline
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40679463
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Miller+MJ%22">Miller MJ</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Duque+Lasio+ML%22">Duque Lasio ML</searchLink>; Department of Pediatrics and Department of Pathology, Washington University School of Medicine, St. Louis, MO.<br /><searchLink fieldCode="AU" term="%22Kennedy+AD%22">Kennedy AD</searchLink>; Metabolon Inc, Durham, NC.<br /><searchLink fieldCode="AU" term="%22McClellan+R%22">McClellan R</searchLink>; Johns Hopkins Center for Inherited Heart Diseases, Baltimore, MD; Neurogenetics, Kennedy Krieger Institute, Baltimore, MD.<br /><searchLink fieldCode="AU" term="%22Oglesbee+D%22">Oglesbee D</searchLink>; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.<br /><searchLink fieldCode="AU" term="%22Smith+WE%22">Smith WE</searchLink>; Department of Pediatrics, Maine Medical Center, Portland, ME.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Cowan+T%22">Cowan T</searchLink>; Department of Pathology, Stanford University Medical Center, Stanford, CA.
– Name: AuthorCorporate
  Label: Corporate Authors
  Group: Au
  Data: <searchLink fieldCode="CA" term="%22ACMG+Laboratory+Quality+Assurance+Committee%2E+Electronic+address%3A+documents%40acmg%2Enet%22">ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net</searchLink>; American College of Medical Genetics and Genomics, Bethesda, MD.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101493. <i>Date of Electronic Publication: </i>2025 Jul 18.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Practice Guideline
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE; In Process
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40679463
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gim.2025.101493
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101493
    Titles:
      – TitleFull: The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Miller MJ
      – PersonEntity:
          Name:
            NameFull: Duque Lasio ML
      – PersonEntity:
          Name:
            NameFull: Kennedy AD
      – PersonEntity:
          Name:
            NameFull: McClellan R
      – PersonEntity:
          Name:
            NameFull: Oglesbee D
      – PersonEntity:
          Name:
            NameFull: Smith WE
      – PersonEntity:
          Name:
            NameFull: Sutton VR
      – PersonEntity:
          Name:
            NameFull: Cowan T
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: 2025 Oct
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 27
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1