TY  - JOUR
AU  - Pogoda, Michaela
AU  - Hilke, Franz-Joachim
AU  - Lohmann, Ebba
AU  - Sturm, Marc
AU  - Lenz, Florian
AU  - Matthes, Jakob
AU  - Muyas, Francesc
AU  - Ossowski, Stephan
AU  - Hoischen, Alexander
AU  - Faust, Ulrike
AU  - Sepahi, Ilnaz
AU  - Casadei, Nicolas
AU  - Poths, Sven
AU  - Riess, Olaf
AU  - Schroeder, Christopher
AU  - Grundmann, Kathrin
TI  - Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
JO  - Frontiers in neurology
VL  - 10
SN  - 1664-2295
CY  - Lausanne
PB  - Frontiers Research Foundation
M1  - DZNE-2020-00450
SP  - 1332
PY  - 2019
AB  - 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
LB  - PUB:(DE-HGF)16
C6  - pmid:31920950
C2  - pmc:PMC6930228
DO  - DOI:10.3389/fneur.2019.01332
UR  - https://pub.dzne.de/record/145091
ER  -