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featured publications

  • CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph.

    NAR genomics and bioinformatics

    Authors: Chengyao Peng, Simon Dieck, Alexander Schmid, Ashar Ahmad, Alexej Knaus, Maren Wenzel, Laura Mehnert, Birgit Zirn, Tobias Haack, Stephan Ossowski, Matias Wagner, Theresa Brunet, Nadja Ehmke, Magdalena Danyel, Stanislav Rosnev, Tom Kamphans, Guy Nadav, Nicole Fleischer, Holger Fröhlich, Peter Krawitz

  • 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