Article
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.
JAMA neurology - 1 May 2018
Coutelier Marie, Hammer Monia B, Stevanin Giovanni, Monin Marie-Lorraine, Davoine Claire-Sophie, Mochel Fanny, Labauge Pierre, Ewenczyk Claire, Ding Jinhui, Gibbs J Raphael, Hannequin Didier, Melki Judith, Toutain Annick, Laugel Vincent, Forlani Sylvie, Charles Perrine, Broussolle Emmanuel, Thobois Stéphane, Afenjar Alexandra, Anheim Mathieu, Calvas Patrick, Castelnovo Giovanni, de Broucker Thomas, Vidailhet Marie, Moulignier Antoine, Ghnassia Robert T, Tallaksen Chantal, Mignot Cyril, Goizet Cyril, Le Ber Isabelle, Ollagnon-Roman Elisabeth, Pouget Jean, Brice Alexis, Singleton Andrew, Durr Alexandra
Abstract excerpt
Importance: Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators to reach a genetic conclusion. Objectives: To assess the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to CA in a...
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