%0 Journal Article
%A Pogoda, Michaela
%A Hilke, Franz-Joachim
%A Lohmann, Ebba
%A Sturm, Marc
%A Lenz, Florian
%A Matthes, Jakob
%A Muyas, Francesc
%A Ossowski, Stephan
%A Hoischen, Alexander
%A Faust, Ulrike
%A Sepahi, Ilnaz
%A Casadei, Nicolas
%A Poths, Sven
%A Riess, Olaf
%A Schroeder, Christopher
%A Grundmann, Kathrin
%T Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
%J Frontiers in neurology
%V 10
%@ 1664-2295
%C Lausanne
%I Frontiers Research Foundation
%M DZNE-2020-00450
%P 1332
%D 2019
%X Background: This study's aim was to investigate a large cohort of dystonia patients for pathogenic and rare variants in the ATM gene, making use of a new, cost-efficient enrichment technology for NGS-based screening. Methods: Single molecule Molecular Inversion Probes (smMIPs) were used for targeted enrichment and sequencing of all protein coding exons and exon-intron boundaries of the ATM gene in 373 dystonia patients and six positive controls with known ATM variants. Additionally, a rare-variant association study was performed. Results: One patient (0.3
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:31920950
%2 pmc:PMC6930228
%R 10.3389/fneur.2019.01332
%U https://pub.dzne.de/record/145091