Skip to main content

Publications

featured publications

  • Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.

    Human mutation

    Authors: Fabian Brand, Aswinkumar Vijayananth, Tzung-Chien Hsieh, Axel Schmidt, Sophia Peters, Elisabeth Mangold, Kirsten Cremer, Tim Bender, Sugirthan Sivalingam, Hela Hundertmark, Alexej Knaus, Hartmut Engels, Peter M Krawitz, Claudia Perne

  • KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

    European journal of human genetics : EJHG

    Authors: Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M Krawitz, Gholson J Lyon

  • Statistical learning for sparser fine-mapped polygenic models: The prediction of LDL-cholesterol.

    Genetic epidemiology

    Authors: Carlo Maj, Christian Staerk, Oleg Borisov, Hannah Klinkhammer, Ming Wai Yeung, Peter Krawitz, Andreas Mayr

  • Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between and .

    Haematologica

    Authors: Alexej Knaus, François Vergez, Cédric Garcia, Hartmut Engels, Hela Hundertmark, David Ribes, Laetitia Largeaud, Suzanne Tavitian, Bernard Payrastre, Peter Krawitz, Stanislas Faguer, Agnes Ribes

  • Clinical, Brain, and Multilevel Clustering in Early Psychosis and Affective Stages.

    JAMA psychiatry

    Authors: Dominic B Dwyer, Madalina-Octavia Buciuman, Anne Ruef, Joseph Kambeitz, Mark Sen Dong, Caedyn Stinson, Lana Kambeitz-Ilankovic, Franziska Degenhardt, Rachele Sanfelici, Linda A Antonucci, Paris Alexandros Lalousis, Julian Wenzel, Maria Fernanda Urquijo-Castro, David Popovic, Oemer Faruk Oeztuerk, Shalaila S Haas, Johanna Weiske, Daniel Hauke, Susanne Neufang, Christian Schmidt-Kraepelin, Stephan Ruhrmann, Nora Penzel, Theresa Lichtenstein, Marlene Rosen, Katharine Chisholm, Anita Riecher-Rössler, Laura Egloff, André Schmidt, Christina Andreou, Jarmo Hietala, Timo Schirmer, Georg Romer, Chantal Michel, Wulf Rössler, Carlo Maj, Oleg Borisov, Peter M Krawitz, Peter Falkai, Christos Pantelis, Rebekka Lencer, Alessandro Bertolino, Stefan Borgwardt, Markus Noethen, Paolo Brambilla, Frauke Schultze-Lutter, Eva Meisenzahl, Stephen J Wood, Christos Davatzikos, Rachel Upthegrove, Raimo K R Salokangas, Nikolaos Koutsouleris

  • The GA4GH Phenopacket schema defines a computable representation of clinical data.

    Nature biotechnology

    Authors: Julius O B Jacobsen, Michael Baudis, Gareth S Baynam, Jacques S Beckmann, Sergi Beltran, Orion J Buske, Tiffany J Callahan, Christopher G Chute, Mélanie Courtot, Daniel Danis, Olivier Elemento, Andrea Essenwanger, Robert R Freimuth, Michael A Gargano, Tudor Groza, Ada Hamosh, Nomi L Harris, Rajaram Kaliyaperumal, Kevin C Kent Lloyd, Aly Khalifa, Peter M Krawitz, Sebastian Köhler, Brian J Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A McMurry, Alejandro Metke-Jimenez, Christopher J Mungall, Monica C Munoz-Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosinach, Marco Roos, Julian Sass, Paul N Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay D Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M Swietlik, Sylvia Thun, Nicole A Vasilevsky, Alex H Wagner, Jeremy L Warner, Claus Weiland, Melissa A Haendel, Peter N Robinson

  • Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany.

    Computational and structural biotechnology journal

    Authors: Marek Korencak, Sugirthan Sivalingam, Anshupa Sahu, Dietmar Dressen, Axel Schmidt, Fabian Brand, Peter Krawitz, Libor Hart, Anna Maria Eis-Hübinger, Andreas Buness, Hendrik Streeck

  • GenRisk: a tool for comprehensive genetic risk modeling.

    Bioinformatics (Oxford, England)

    Authors: Rana Aldisi, Emadeldin Hassanin, Sugirthan Sivalingam, Andreas Buness, Hannah Klinkhammer, Andreas Mayr, Holger Fröhlich, Peter Krawitz, Carlo Maj

  • 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