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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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • Impact of the use of GeneXpert on TB diagnosis and anti-TB treatment outcome at health facilities in Addis Ababa, Ethiopia in the post-millennium development years.

    PloS one

    Authors: Desalegn Addise Getahun, Laura E Layland, Achim Hoerauf, Biniam Wondale