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featured publications

  • Risk factors for age-related macular degeneration.

    Die Ophthalmologie

    Authors: Caroline Brandl, Iris M Heid, H Helbig, Frank G Holz, Robert P Finger, Matthias M Mauschitz

  • Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.

    Human genome variation

    Authors: Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz

  • Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.

    Nature communications

    Authors: Kerstin Filippi, Kathrin Graf-Riesen, Maithreyan Kuppusamy, Andreas Unger, Kenichi Kimura, Martin Matijass, Henrique Baeta, Magdalena Podlacha, Daniel Haertter, Alexei P Kudin, Martin Wiemann, Grzegorz Węgrzyn, Cornelia Kornblum, Jens Reimann, Wolfgang A Linke, Pitter F Huesgen, Wolfram S Kunz, Bernd K Fleischmann, Michael Hesse

  • Anne-Katrin Pröbstel: B cells, antibodies and microbiota in autoimmune disease.

    Nature reviews. Neurology

    Authors: Ian Fyfe, Anne-Katrin Pröbstel

  • The Prognostic Impact of the Ki-67 Proliferation Index in Patients with Surgically Treated Spinal Metastases.

    Cancers

    Authors: Saif-Eldin Abedellatif, Marija Janjic, Logman Khalafov, Harun Asoglu, Juliane Dittmer, Muriel Heimann, Mohammed Jaber, Haitham Alenezi, Marieta Ioana Toma, Matthias Schneider, Hartmut Vatter, Motaz Hamed, Mohammed Banat

  • Long-term alterations of cerebellar structure after premature birth.

    NeuroImage

    Authors: Marcel Daamen, Lukas Scheef, Aurore Menegaux, Benita Schmitz-Koep, Dennis M Hedderich, Markus Essler, Julian Luetkens, Claus Zimmer, Christian Sorg, Dieter Wolke, Peter Bartmann, Henning Boecker

  • Recruiting without destroying.

    Nature chemical biology

    Authors: Dominika Ewa Pieńkowska, Radosław Piotr Nowak

  • Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

    American journal of human genetics

    Authors: Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M Bertoli-Avella, Salem Alawbathani, Elizabeth E Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A L Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche

  • Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

    Movement disorders : official journal of the Movement Disorder Society

    Authors: Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M Stehr, Peter M Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G Christoph Korenke, Michael Zech

  • Telomere damage enhances immunogenicity of neuroblastoma and accelerates response to anti-PD-L1 treatment.

    Oncoimmunology

    Authors: Stefanie Höppner, Lisa Werr, Beata Szilagyi, Christoph Bartenhagen, Anna-Maria Hellmann, Carolina Rosswog, Emma Linden, Gerrit Primke, Yvonne Kahlert, Nadliv Ibruli, Nadine Hemstedt, Witali Lorenz, Johannes Brägelmann, Michael Hölzel, Matthias Fischer