Genetics in Medicine Open (Jan 2024)
P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases
- Hassan Saei,
- Jessica Kachmar,
- Vincent Morinière,
- Laurence Heidet,
- Olivier Gribouval,
- Said Lebbah,
- Frederic Tores,
- Manon Mautret-Godefroy,
- Bertrand Knebelmann,
- Stéphane Burtey,
- Vincent Vuiblet,
- Corinne Antignac,
- Patrick Nitschké,
- Guillaume Dorval
Affiliations
- Hassan Saei
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Jessica Kachmar
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Vincent Morinière
- Service de Medecine Genomique des Maladies Rares, Hopital Necker-Enfants Malades, Assistance publique, Hopitaux de Paris (AP-HP), Paris, France
- Laurence Heidet
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Olivier Gribouval
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Said Lebbah
- Departement de Sante Publique, Unite´ de Recherche Clinique, Hopital PitieSalpetriere, Assistance publique, Hopitaux de Paris (AP-HP), Paris, France
- Frederic Tores
- Bioinformatics Platform, Imagine Institute, Paris, France
- Manon Mautret-Godefroy
- Service de Medecine Genomique des Maladies Rares, Hopital Necker-Enfants Malades, Assistance publique, Hopitaux de Paris (AP-HP), Paris, France
- Bertrand Knebelmann
- Service de Nephrologie, Centre de Reference MARHEA, Hopital Necker-Enfants Malades, Assistance publique, Hopitaux de Paris (AP-HP), Paris, France
- Stéphane Burtey
- INSERM, C2VN, INRAE, C2VN, Aix-Marseille Universite´, Marseille, France
- Vincent Vuiblet
- Service de Nephrologie, CHU de Reims, Reims, France
- Corinne Antignac
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Patrick Nitschké
- Bioinformatics Platform, Imagine Institute, Paris, France
- Guillaume Dorval
- Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France
- Journal volume & issue
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Vol. 2
p. 101065
