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featured publications

  • Predicting the pathogenicity of missense variants using features derived from AlphaFold2.

    Bioinformatics (Oxford, England)

    Authors: Axel Schmidt, Sebastian Röner, Karola Mai, Hannah Klinkhammer, Martin Kircher, Kerstin U Ludwig

  • First genome-wide association study for lymphatic filariasis in a West African population points to a human leukocyte antigen-mediated disease pathophysiology.

    International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

    Authors: Sandeep Grover, Vera S Opoku, Linda B Debrah, Carlo Maj, Jubin Osei-Mensah, Derrick A Mensah, Achim Hoerauf, Alexander Y Debrah, Johannes Schumacher, Kenneth Pfarr

  • Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

    European journal of human genetics : EJHG

    Authors: Gholson J Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel

  • Multimodality imaging and transcriptomics to phenotype mitral valve dystrophy in a unique knock-in Filamin-A rat model.

    Cardiovascular research

    Authors: Constance Delwarde, Claire Toquet, Pascal Aumond, Amir Hossein Kayvanjoo, Adrien Foucal, Benjamin Le Vely, Manon Baudic, Benjamin Lauzier, Stéphanie Blandin, Joëlle Véziers, Perrine Paul-Gilloteaux, Simon Lecointe, Estelle Baron, Ilaria Massaiu, Paolo Poggio, Séverine Rémy, Ignacio Anegon, Hervé Le Marec, Laurent Monassier, Jean-Jacques Schott, Elvira Mass, Julien Barc, Thierry Le Tourneau, Jean Merot, Romain Capoulade

  • Elucidation of the genetic causes of bicuspid aortic valve disease.

    Cardiovascular research

    Authors: Jan Gehlen, Anja Stundl, Radoslaw Debiec, Federica Fontana, Markus Krane, Dinara Sharipova, Christopher P Nelson, Baravan Al-Kassou, Ann-Sophie Giel, Jan-Malte Sinning, Christopher M H Bruenger, Carolin F Zelck, Laura L Koebbe, Peter S Braund, Thomas R Webb, Simon Hetherington, Stephan Ensminger, Buntaro Fujita, Salah A Mohamed, Malakh Shrestha, Heike Krueger, Matthias Siepe, Fabian Alexander Kari, Peter Nordbeck, Larissa Buravezky, Malte Kelm, Verena Veulemans, Matti Adam, Stephan Baldus, Karl-Ludwig Laugwitz, Yannick Haas, Matthias Karck, Uwe Mehlhorn, Lars Oliver Conzelmann, Ingo Breitenbach, Corinna Lebherz, Paul Urbanski, Won-Keun Kim, Joscha Kandels, David Ellinghaus, Ulrike Nowak-Goettl, Per Hoffmann, Felix Wirth, Stefanie Doppler, Harald Lahm, Martina Dreßen, Moritz von Scheidt, Katharina Knoll, Thorsten Kessler, Christian Hengstenberg, Heribert Schunkert, Georg Nickenig, Markus M Nöthen, Aidan P Bolger, Salim Abdelilah-Seyfried, Nilesh J Samani, Jeanette Erdmann, Teresa Trenkwalder, Johannes Schumacher

  • Cholinergic white matter pathways along the Alzheimer's disease continuum.

    Brain : a journal of neurology

    Authors: Milan Nemy, Martin Dyrba, Frederic Brosseron, Katharina Buerger, Peter Dechent, Laura Dobisch, Michael Ewers, Klaus Fliessbach, Wenzel Glanz, Doreen Goerss, Michael T Heneka, Stefan Hetzer, Enise I Incesoy, Daniel Janowitz, Ingo Kilimann, Christoph Laske, Franziska Maier, Matthias H Munk, Robert Perneczky, Oliver Peters, Lukas Preis, Josef Priller, Boris-Stephan Rauchmann, Sandra Röske, Nina Roy, Klaus Scheffler, Anja Schneider, Björn H Schott, Annika Spottke, Eike J Spruth, Michael Wagner, Jens Wiltfang, Renat Yakupov, Maria Eriksdotter, Eric Westman, Olga Stepankova, Lenka Vyslouzilova, Emrah Düzel, Frank Jessen, Stefan J Teipel, Daniel Ferreira

  • Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency.

    Intractable & rare diseases research

    Authors: Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch

  • The cilia mechanosensation debate gets (bio)physical.

    Nature reviews. Nephrology

    Authors: Dagmar Wachten, Pleasantine Mill

  • Correction: Characteristics and outcomes of patients undergoing transcatheter mitral valve replacement with the Tendyne system.

    Clinical research in cardiology : official journal of the German Cardiac Society

    Authors: Nihal Wilde, Tetsu Tanaka, Vivian Vij, Atsushi Sugiura, Mitsumasa Sudo, Eva Eicheler, Miriam Silaschi, Johanna Vogelhuber, Farhad Bakhtiary, Georg Nickenig, Marcel Weber, Sebastian Zimmer

  • [POGLUT1-Varianten bei Morbus Dowling-Degos - Assoziation mit spezifischen klinischen und histopathologischen Merkmalen?].

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Sheetal Kumar, Jörg Wenzel, Michael P Schön, Regina C Betz, Jorge Frank