Browsing by Author "Hoischen, Alexander"

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  • A framework for the clinical implementation of optical genome mapping in hematologic malignancies
    Levy, Brinn; Kanagal-Shamanna, Rashmi; Sahajpal, Nikhil S.; Neveling, Kornelia; Rack, Katrina; Dewaele, Barbara; Olde Weghuis, Daniel; Stevens-Kroef, Marian; Puiggros Metje, Anna Maria; Mallo, Mar; Clifford, Benjamin; Mantere, Tuomo; Hoischen, Alexander; Espinet Solà, Blanca; Kolhe, Ravindra; Solé, Francesc; Raca, Gordana; Smith, Adam C. (Wiley, 2024)
    Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the ...
  • Single molecule molecular inversion probes for high throughput germline screenings in dystonia
    Pogoda, Michaela; Hilke, Franz-Joachim; Lohmann, Ebba; Sturm, Marc; Lenz, Florian; Matthes, Jakob; Muyas Remolar, Francesc, 1992-; Ossowski, Stephan; Hoischen, Alexander; Faust, Ulrike; Sepahi, Ilnaz; Casadei, Nicolas; Poths, Sven; Riess, Olaf; Schroeder, Christopher; Grundmann, Kathrin (Frontiers, 2019)
    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. ...
  • Solving the unsolved rare diseases in Europe
    Graessner, Holm; Zurek, Birte; Hoischen, Alexander; Beltran, Sergi (Nature Research, 2021)

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