Inherited metabolic disorders beyond the new generation sequencing era: the need for in-depth cellular and molecular phenotyping

Jean-Louis Guéant^{1

2}, François Feillet^{3

4}

Affiliations

¹ INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
² Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
³ INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France.
⁴ Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France.

Editorial

Jean-Louis Guéant et al. Hum Genet. 2022 Jul.

. 2022 Jul;141(7):1235-1237.

doi: 10.1007/s00439-022-02467-4.

Jean-Louis Guéant^{1

2}, François Feillet^{3

4}

¹ INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
² Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
³ INSERM, UMR_S1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine, Avenue de la Forêt de Haye, Vandoeuvre-Lès-Nancy, 54500, Nancy, France.
⁴ Reference Centre of Inborn Metabolism Diseases and Department of Molecular Medicine, University Hospital Center, 54500, Nancy, France.

No abstract available

Comment on

Diagnostic yield of clinical exome sequencing as a first-tier genetic test for the diagnosis of genetic disorders in pediatric patients: results from a referral center study.
Mergnac JP, Wiedemann A, Chery C, Ravel JM, Namour F, Guéant JL, Feillet F, Oussalah A. Mergnac JP, et al. Hum Genet. 2022 Jul;141(7):1269-1278. doi: 10.1007/s00439-021-02358-0. Epub 2021 Sep 8. Hum Genet. 2022. PMID: 34495415

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