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  • A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions.

    Proceedings of the National Academy of Sciences of the United States of America

    Authors: Miguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J Becker, Dietmar Schmitz, York Winter, Peter M Krawitz

  • Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.

    Clinical genetics

    Authors: Aleksandra Jezela-Stanek, Elżbieta Szczepanik, Hanna Mierzewska, Małgorzata Rydzanicz, Karolina Rutkowska, Alexej Knaus, Robert Śmigiel, Iwona Stępniak, Michał G Markiewicz, Snir Boniel, Peter Krawitz, Rafał Płoski

  • Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma.

    Gastroenterology

    Authors: Jing Dong, Carlo Maj, Spiridon Tsavachidis, Quinn T Ostrom, Puya Gharahkhani, Lesley A Anderson, Anna H Wu, Weimin Ye, Leslie Bernstein, Oleg Borisov, Julia Schröder, Wong-Ho Chow, Marilie D Gammon, Geoffrey Liu, Carlos Caldas, Paul D Pharoah, Harvey A Risch, Andrea May, Christian Gerges, Mario Anders, Marino Venerito, Thomas Schmidt, Jakob R Izbicki, Arnulf H Hölscher, Brigitte Schumacher, Yogesh Vashist, Horst Neuhaus, Thomas Rösch, Michael Knapp, Peter Krawitz, Anne Böhmer, Prasad G Iyer, Brian J Reid, Jesper Lagergren, Nicholas J Shaheen, Douglas A Corley, Ines Gockel, Rebecca C Fitzgerald, Michael B Cook, David C Whiteman, Thomas L Vaughan, Johannes Schumacher, Aaron P Thrift

  • New technologies for intensive prevention programs after myocardial infarction: rationale and design of the NET-IPP trial.

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

    Authors: Harm Wienbergen, Andreas Fach, Jeanette Erdmann, Alexander Katalinic, Nora Eisemann, Peter Krawitz, Carlo Maj, Oleg Borisov, Matthias Munz, Markus Noethen, Roza Meyer-Saraei, Rico Osteresch, Johannes Schmucker, Axel Linke, Ingo Eitel, Rainer Hambrecht, Harald Langer

  • Hematologist-Level Classification of Mature B-Cell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data.

    Cytometry. Part A : the journal of the International Society for Analytical Cytology

    Authors: Max Zhao, Nanditha Mallesh, Alexander Höllein, Richard Schabath, Claudia Haferlach, Torsten Haferlach, Franz Elsner, Hannes Lüling, Peter Krawitz, Wolfgang Kern

  • Factors in Color Fundus Photographs That Can Be Used by Humans to Determine Sex of Individuals.

    Translational vision science & technology

    Authors: Simon Dieck, Miguel Ibarra, Ismail Moghul, Ming Wai Yeung, Jean Tori Pantel, Sarah Thiele, Maximilian Pfau, Monika Fleckenstein, Nikolas Pontikos, Peter M Krawitz

  • Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics.

    Investigational new drugs

    Authors: Ying Zhang, Francesca Garofano, Xiaolong Wu, Matthias Schmid, Peter Krawitz, Markus Essler, Ingo G H Schmidt-Wolf

  • Lessons learned from 40 novel PIGA patients and a review of the literature.

    Epilepsia

    Authors: Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert, Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, Christel Depienne, Milda Endziniene, Carlos R Ferreira, Carolina Fischinger Moura de Souza, Cécile Freihuber, Shiva Ganesan, Svetlana Gataullina, Renzo Guerrini, Anne-Marie Guerrot, Lars Hansen, Aleksandra Jezela-Stanek, Caroline Karsenty, Anneke Kievit, Frank R Kooy, Christian M Korff, Johanne Kragh Hansen, Martin Larsen, Valérie Layet, Gaetan Lesca, Kim L McBride, Marije Meuwissen, Cyril Mignot, Martino Montomoli, Hannah Moore, Sophie Naudion, Caroline Nava, Marie-Christine Nougues, Elena Parrini, Matthew Pastore, Jurgen H Schelhaas, Steven Skinner, Krzysztoł Szczałuba, Ashley Thomas, Mads Thomassen, Lisbeth Tranebjaerg, Marjon van Slegtenhorst, Lynne A Wolfe, Dennis Lal, Elena Gardella, Lilian Bomme Ousager, Tobias Brünger, Ingo Helbig, Peter Krawitz, Rikke S Møller

  • Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.

    Orphanet journal of rare diseases

    Authors: Leigh C Carmody, Hannah Blau, Daniel Danis, Xingman A Zhang, Jean-Philippe Gourdine, Nicole Vasilevsky, Peter Krawitz, Miles D Thompson, Peter N Robinson

  • Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation.

    The Journal of clinical investigation

    Authors: Britta Höchsmann, Yoshiko Murakami, Makiko Osato, Alexej Knaus, Michi Kawamoto, Norimitsu Inoue, Tetsuya Hirata, Shogo Murata, Markus Anliker, Thomas Eggermann, Marten Jäger, Ricarda Floettmann, Alexander Höllein, Sho Murase, Yasutaka Ueda, Jun-Ichi Nishimura, Yuzuru Kanakura, Nobuo Kohara, Hubert Schrezenmeier, Peter M Krawitz, Taroh Kinoshita