Skip to main content

Publications

featured publications

  • Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

    American journal of medical genetics. Part C, Seminars in medical genetics

    Authors: Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith-Rae Dias, Krystle Standen, Carey-Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung-Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding-Byth, Bekim Sadikovic, Jason Pinner, Michael F Buckley, Tony Roscioli

  • Accessibility of covariance information creates vulnerability in Federated Learning frameworks.

    Bioinformatics (Oxford, England)

    Authors: Manuel Huth, Jonas Arruda, Roy Gusinow, Lorenzo Contento, Evelina Tacconelli, Jan Hasenauer

  • CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

    European journal of human genetics : EJHG

    Authors: Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer

  • Clinical significance and prevalence of subarachnoid hyperdensities on flat detector CT after mechanical thrombectomy: does it really matter?

    Journal of neurointerventional surgery

    Authors: Mousa Zidan, Shiwa Ghaei, Felix J Bode, Johannes M Weller, Nadine Krueger, Nils Christian Lehnen, Gabor C Petzold, Alexander Radbruch, Franziska Dorn, Daniel Paech

  • Engineering bacteriophytochrome-coupled photoactivated adenylyl cyclases for enhanced optogenetic cAMP modulation.

    Journal of molecular biology

    Authors: Qianzhao Xu, Arend Vogt, Fabian Frechen, Chengwei Yi, Melike Küçükerden, Neville Ngum, Laia Sitjà Roqueta, Andreas Greiner, Rhein Parri, Mercè Masana, Nikolaus Wenger, Dagmar Wachten, Andreas Möglich

  • Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis.

    The Journal of experimental medicine

    Authors: Kim Samirah Robinson, Gee Ann Toh, Muhammad Jasrie Firdaus, Khek Chian Tham, Pritisha Rozario, Chrissie K Lim, Ying Xiu Toh, Zhi Heng Lau, Sophie Charlotte Binder, Jacob Mayer, Carine Bonnard, Florian I Schmidt, John E A Common, Franklin L Zhong

  • Comparison between regular additional endobiliary radiofrequency ablation and photodynamic therapy in patients with advanced extrahepatic cholangiocarcinoma under systemic chemotherapy.

    Frontiers in oncology

    Authors: Christian Möhring, Oliver Khan, Taotao Zhou, Farsaneh Sadeghlar, Robert Mahn, Dominik J Kaczmarek, Leona Dold, Marieta Toma, Milka Marinova, Tim R Glowka, Hanno Matthaei, Steffen Manekeller, Jörg C Kalff, Christian P Strassburg, Tobias J Weismüller, Maria A Gonzalez-Carmona

  • Phosphorylation-state dependent intraneuronal sorting of Aβ differentially impairs autophagy and the endo-lysosomal system.

    Autophagy

    Authors: Akshay Kapadia, Sandra Theil, Sabine Opitz, Nàdia Villacampa, Hannes Beckert, Susanne Schoch-McGovern, Michael T Heneka, Sathish Kumar, Jochen Walter

  • Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy.

    Molecular therapy : the journal of the American Society of Gene Therapy

    Authors: Claudia Yaghootfam, Marc Sylvester, Boris Turk, Volkmar Gieselmann, Ulrich Matzner

  • TRI-SCORE and benefit of intervention in patients with severe tricuspid regurgitation.

    European heart journal

    Authors: Julien Dreyfus, Xavier Galloo, Maurizio Taramasso, Gregor Heitzinger, Giovanni Benfari, Karl-Patrick Kresoja, Fernando Juarez-Casso, Hazem Omran, Yohann Bohbot, Christos Iliadis, Giulio Russo, Yan Topilsky, Marcel Weber, Luis Nombela-Franco, Alessandra Sala, Andrea Eixerés-Esteve, Bernard Iung, Jean-François Obadia, Rodrigo Estevez Loureiro, Elisabeth Riant, Erwan Donal, Jörg Hausleiter, Luigi Badano, Thierry Le Tourneau, Augustin Coisne, Thomas Modine, Azeem Latib, Fabien Praz, Stephan Windecker, Jose Luis Zamorano, Ralph Stephan von Bardeleben, Gilbert H L Tang, Rebecca Hahn, John Webb, Denisa Muraru, Mohammed Nejjari, Vincent Chan, Michele De Bonis, Manuel Carnero-Alcazar, Georg Nickenig, Roman Pfister, Christophe Tribouilloy, Volker Rudolph, Juan Crestanello, Philipp Lurz, Philipp Bartko, Francesco Maisano, Jeroen Bax, Maurice Enriquez-Sarano, David Messika-Zeitoun