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Publications

featured publications

  • Next-generation phenotyping in Nigerian children with Cornelia de Lange syndrome.

    American journal of medical genetics. Part A

    Authors: Annabelle Arlt, Alexej Knaus, Tzung-Chien Hsieh, Hannah Klinkhammer, Meghna Ahuja Bhasin, Alexander Hustinx, Shahida Moosa, Peter Krawitz, Ekanem Ekure

  • Impact of Synbiotic Intake on Liver Metabolism in Metabolically Healthy Participants and Its Potential Preventive Effect on Metabolic-Dysfunction-Associated Fatty Liver Disease (MAFLD): A Randomized, Placebo-Controlled, Double-Blinded Clinical Trial.

    Nutrients

    Authors: Aakash Mantri, Anika Köhlmoos, Daniela Stephanie Schelski, Waldemar Seel, Birgit Stoffel-Wagner, Peter Krawitz, Peter Stehle, Jens Juul Holst, Bernd Weber, Leonie Koban, Hilke Plassmann, Marie-Christine Simon

  • GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts.

    ArXiv

    Authors: Da Wu, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J Lyon, Ian D Krantz, Jennifer M Kalish, Kai Wang

  • Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis.

    Genes

    Authors: Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, Peter M Krawitz, Tzung-Chien Hsieh

  • Comparison of clinical geneticist and computer visual attention in assessing genetic conditions.

    PLoS genetics

    Authors: Dat Duong, Anna Rose Johny, Suzanna Ledgister Hanchard, Christopher Fortney, Kendall Flaharty, Fabio Hellmann, Ping Hu, Behnam Javanmardi, Shahida Moosa, Tanviben Patel, Susan Persky, Ömer Sümer, Cedrik Tekendo-Ngongang, Hellen Lesmann, Tzung-Chien Hsieh, Rebekah L Waikel, Elisabeth André, Peter Krawitz, Benjamin D Solomon

  • ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

    Brain : a journal of neurology

    Authors: Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack

  • Extending DeepTrio for sensitive detection of complex mutation patterns.

    NAR genomics and bioinformatics

    Authors: Fabian Brand, Jannis Guski, Peter Krawitz

  • Role of CAMK2D in neurodevelopment and associated conditions.

    American journal of human genetics

    Authors: Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, Martina Proietti Onori, Jennifer B Humberson, Matthew Thomas, Caitlin Barnes, Carlos E Prada, K Nicole Weaver, Thomas D Ryan, Oana Caluseriu, Jennifer Conway, Emily Calamaro, Chin-To Fong, Wim Wuyts, Marije Meuwissen, Eva Hordijk, Carsten N Jonkers, Lucas Anderson, Berfin Yuseinova, Sarah Polonia, Diane Beysen, Zornitza Stark, Elena Savva, Cathryn Poulton, Fiona McKenzie, Elizabeth Bhoj, Caleb P Bupp, Stéphane Bézieau, Sandra Mercier, Amy Blevins, Ingrid M Wentzensen, Fan Xia, Jill A Rosenfeld, Tzung-Chien Hsieh, Peter M Krawitz, Miriam Elbracht, Danielle C M Veenma, Howard Schulman, Margaret M Stratton, Sébastien Küry, Geeske M van Woerden

  • Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

    Human genetics

    Authors: Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Roseline Caumes, Perrine Charles, Nicolas Chatron, Krystyna Chrzanowska, Marta Codina-Solà, Cindy Colson, Ivon Cuscó, Anne-Sophie Denommé-Pichon, Patrick Edery, Laurence Faivre, Andrew Green, Solveig Heide, Tzung-Chien Hsieh, Alexander Hustinx, Lotte Kleinendorst, Cordula Knopp, Florian Kraft, Peter M Krawitz, Amaia Lasa-Aranzasti, Gaetan Lesca, Vanesa López-González, Julien Maraval, Cyril Mignot, Teresa Neuhann, Christian Netzer, Barbara Oehl-Jaschkowitz, Florence Petit, Christophe Philippe, Renata Posmyk, Audrey Putoux, André Reis, María José Sánchez-Soler, Julia Suh, Tinatin Tkemaladze, Frédéric Tran Mau Them, André Travessa, Laura Trujillano, Irene Valenzuela, Mieke M van Haelst, Georgia Vasileiou, Catherine Vincent-Delorme, Mona Walther, Pablo Verde, Nuria C Bramswig, Dagmar Wieczorek

  • Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank.

    Frontiers in genetics

    Authors: Emadeldin Hassanin, Ko-Han Lee, Tzung-Chien Hsieh, Rana Aldisi, Yi-Lun Lee, Dheeraj Bobbili, Peter Krawitz, Patrick May, Chien-Yu Chen, Carlo Maj