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  • variants of cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

    HGG advances

    Authors: Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M Savatt, Natasha L Rudy, Chiara De Luca, Paola Fortugno, Susan M White, Peter Krawitz, Anna C E Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain

  • Top publication

    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

    Nature genetics

    Authors: Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus M Nöthen, Peter M Krawitz

  • Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease.

    Communications biology

    Authors: Florian Uellendahl-Werth, Carlo Maj, Oleg Borisov, Simonas Juzenas, Eike Matthias Wacker, Isabella Friis Jørgensen, Tim Alexander Steiert, Saptarshi Bej, Peter Krawitz, Per Hoffmann, Christoph Schramm, Olaf Wolkenhauer, Karina Banasik, Søren Brunak, Stefan Schreiber, Tom Hemming Karlsen, Franziska Degenhardt, Markus Nöthen, Andre Franke, Trine Folseraas, David Ellinghaus

  • Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history.

    Genetics in medicine : official journal of the American College of Medical Genetics

    Authors: Emadeldin Hassanin, Patrick May, Rana Aldisi, Isabel Spier, Andreas J Forstner, Markus M Nöthen, Stefan Aretz, Peter Krawitz, Dheeraj Reddy Bobbili, Carlo Maj

  • Combining callers improves the detection of copy number variants from whole-genome sequencing.

    European journal of human genetics : EJHG

    Authors: Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

  • Knowledge transfer to enhance the performance of deep learning models for automated classification of B cell neoplasms.

    Patterns (New York, N.Y.)

    Authors: Nanditha Mallesh, Max Zhao, Lisa Meintker, Alexander Höllein, Franz Elsner, Hannes Lüling, Torsten Haferlach, Wolfgang Kern, Jörg Westermann, Peter Brossart, Stefan W Krause, Peter M Krawitz

  • 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