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featured publications

  • DeepCNV: a deep learning approach for authenticating copy number variations.

    Briefings in bioinformatics

    Authors: Joseph T Glessner, Xiurui Hou, Cheng Zhong, Jie Zhang, Munir Khan, Fabian Brand, Peter Krawitz, Patrick M A Sleiman, Hakon Hakonarson, Zhi Wei

  • Tumor rejection in mice depends on IL-9 and Th9 cells.

    Journal for immunotherapy of cancer

    Authors: Oliver Schanz, Isabelle Cornez, Sowmya Parampalli Yajnanarayana, Friederike Sophie David, Sebastian Peer, Thomas Gruber, Peter Krawitz, Peter Brossart, Annkristin Heine, Jenny Landsberg, Gottfried Baier, Dominik Wolf

  • TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.

    NPJ genomic medicine

    Authors: Axel Schmidt, Sophia Peters, Alexej Knaus, Hemmen Sabir, Frauke Hamsen, Carlo Maj, Julia Fazaal, Sugirthan Sivalingam, Oleksandr Savchenko, Aakash Mantri, Dirk Holzinger, Ulrich Neudorf, Andreas Müller, Kerstin U Ludwig, Peter M Krawitz, Hartmut Engels, Markus M Nöthen, Soyhan Bagci

  • Genome sequencing in families with congenital limb malformations.

    Human genetics

    Authors: Jonas Elsner, Martin A Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Andreas Busche, Marie Coutelier, Deepthi C de Silva, Nursel Elçioglu, Isabel Filges, Erica Gerkes, Katta M Girisha, Luitgard Graul-Neumann, Aleksander Jamsheer, Peter Krawitz, Ingo Kurth, Susanne Markus, Andre Megarbane, André Reis, Miriam S Reuter, Daniel Svoboda, Christopher Teller, Beyhan Tuysuz, Seval Türkmen, Meredith Wilson, Rixa Woitschach, Inga Vater, Almuth Caliebe, Wiebke Hülsemann, Denise Horn, Stefan Mundlos, Malte Spielmann

  • Extending the allelic spectrum at noncoding risk loci of orofacial clefting.

    Human mutation

    Authors: Frederic Thieme, Leonie Henschel, Nigel L Hammond, Nina Ishorst, Jonas Hausen, Antony D Adamson, Angelika Biedermann, John Bowes, Hanna K Zieger, Carlo Maj, Teresa Kruse, Andreas Buness, Alexander Hoischen, Christian Gilissen, Thomas Kreusch, Andreas Jäger, Lina Gölz, Bert Braumann, Khalid Aldhorae, Augusto Rojas-Martinez, Peter M Krawitz, Elisabeth Mangold, Michael J Dixon, Kerstin U Ludwig

  • Multimodal Machine Learning Workflows for Prediction of Psychosis in Patients With Clinical High-Risk Syndromes and Recent-Onset Depression.

    JAMA psychiatry

    Authors: Nikolaos Koutsouleris, Dominic B Dwyer, Franziska Degenhardt, Carlo Maj, Maria Fernanda Urquijo-Castro, Rachele Sanfelici, David Popovic, Oemer Oeztuerk, Shalaila S Haas, Johanna Weiske, Anne Ruef, Lana Kambeitz-Ilankovic, Linda A Antonucci, Susanne Neufang, Christian Schmidt-Kraepelin, Stephan Ruhrmann, Nora Penzel, Joseph Kambeitz, Theresa K Haidl, Marlene Rosen, Katharine Chisholm, Anita Riecher-Rössler, Laura Egloff, André Schmidt, Christina Andreou, Jarmo Hietala, Timo Schirmer, Georg Romer, Petra Walger, Maurizia Franscini, Nina Traber-Walker, Benno G Schimmelmann, Rahel Flückiger, Chantal Michel, Wulf Rössler, Oleg Borisov, Peter M Krawitz, Karsten Heekeren, Roman Buechler, Christos Pantelis, Peter Falkai, Raimo K R Salokangas, Rebekka Lencer, Alessandro Bertolino, Stefan Borgwardt, Markus Noethen, Paolo Brambilla, Stephen J Wood, Rachel Upthegrove, Frauke Schultze-Lutter, Anastasia Theodoridou, Eva Meisenzahl

  • A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.

    Proceedings of the National Academy of Sciences of the United States of America

    Authors: Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J Becker, Dietmar Schmitz, York Winter, Peter M Krawitz

  • Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

    Clinical genetics

    Authors: Aleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, Małgorzata Rydzanicz, Karolina Rutkowska, Alexej Knaus, Robert Śmigiel, Iwona Stępniak, Michał G Markiewicz, Snir Boniel, Peter Krawitz, Rafał Płoski

  • Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma.

    Gastroenterology

    Authors: Jing Dong, Carlo Maj, Spiridon Tsavachidis, Quinn T Ostrom, Puya Gharahkhani, Lesley A Anderson, Anna H Wu, Weimin Ye, Leslie Bernstein, Oleg Borisov, Julia Schröder, Wong-Ho Chow, Marilie D Gammon, Geoffrey Liu, Carlos Caldas, Paul D Pharoah, Harvey A Risch, Andrea May, Christian Gerges, Mario Anders, Marino Venerito, Thomas Schmidt, Jakob R Izbicki, Arnulf H Hölscher, Brigitte Schumacher, Yogesh Vashist, Horst Neuhaus, Thomas Rösch, Michael Knapp, Peter Krawitz, Anne Böhmer, Prasad G Iyer, Brian J Reid, Jesper Lagergren, Nicholas J Shaheen, Douglas A Corley, Ines Gockel, Rebecca C Fitzgerald, Michael B Cook, David C Whiteman, Thomas L Vaughan, Johannes Schumacher, Aaron P Thrift

  • New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial.

    Clinical research in cardiology : official journal of the German Cardiac Society

    Authors: Harm Wienbergen, Andreas Fach, Jeanette Erdmann, Alexander Katalinic, Nora Eisemann, Peter Krawitz, Carlo Maj, Oleg Borisov, Matthias Munz, Markus Noethen, Roza Meyer-Saraei, Rico Osteresch, Johannes Schmucker, Axel Linke, Ingo Eitel, Rainer Hambrecht, Harald Langer