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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.
Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; De Biase, Irene; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon; Yuzyuk, Tatiana; Braverman, Nancy E.
Affiliation
  • Mohan S; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Mayers M; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Weaver M; American College of Medical Genetics and Genomics, Bethesda, MD, USA.
  • Baudet H; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • De Biase I; ARUP Laboratories, Salt Lake City, UT, USA.
  • Goldstein J; Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, NC, USA.
  • Mao R; ARUP Laboratories, Salt Lake City, UT, USA.
  • McGlaughon J; Invitae, San Francisco, CA, USA.
  • Moser A; Kennedy Krieger Institute, Baltimore, MD, USA.
  • Pujol A; Bellvitge Biomedical Research Institute (IDIBELL Instituto de Investigación Biomédica de Bellvitge), Barcelona, Spain.
  • Suchy S; GeneDx, Gaithersburg, MD, USA.
  • Yuzyuk T; ARUP Laboratories, Salt Lake City, UT, USA.
  • Braverman NE; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: nancy.braverman@mcgill.ca.
Mol Genet Metab ; 139(3): 107604, 2023 07.
Article de En | MEDLINE | ID: mdl-37236006
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dépistage néonatal / Techniques de diagnostic moléculaire Type d'étude: Diagnostic_studies / Guideline Limites: Humans / Newborn Langue: En Journal: Mol Genet Metab Sujet du journal: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Dépistage néonatal / Techniques de diagnostic moléculaire Type d'étude: Diagnostic_studies / Guideline Limites: Humans / Newborn Langue: En Journal: Mol Genet Metab Sujet du journal: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique