Fiche publication
Date publication
janvier 2022
Journal
Neurology
Auteurs
Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis
Tous les auteurs :
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A,
Lien Pubmed
Résumé
Genetic white matter disorders (GWMD) are of heterogeneous origin, with more than a hundred causal genes identified to date. Classical targeted approaches achieve a molecular diagnosis in only half of all patients. Here we aim to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD patients, while identifying novel phenotypes and candidate genes.
Référence
Neurology. 2022 Jan 10;:
