Výsledky vyhledávání - German Demidov

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  1. 1
    Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

    Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients Autor Franz J. Hilke, Tobias Sinnberg, Axel Gschwind, Heike Niessner, German Demidov, Teresa Amaral, Stephan Ossowski, Irina Bonzheim, Martin Röcken, Olaf Rieß, Claus Garbe, Christopher Schroeder, Andrea Forschner

    Vydáno 2020
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  2. 2
    MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

    MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma Autor Andrea Forschner, Franz-Joachim Hilke, Irina Bonzheim, Axel Gschwind, German Demidov, Teresa Amaral, Stephan Ossowski, Olaf Rieß, Christopher Schroeder, Peter Martus, Bernhard Klumpp, Irene González-Menéndez, Claus Garbe, Heike Niessner, Tobias Sinnberg

    Vydáno 2020
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  3. 3
    Genomes in clinical care

    Genomes in clinical care Autor Olaf Rieß, Marc Sturm, Benita Menden, Alexandra Liebmann, German Demidov, Dennis Witt, Nicolas Casadei, Jakob Admard, Leon Schütz, Stephan Ossowski, Stacie L. Taylor, Sven Schaffer, Christopher Schroeder, Andreas Dufke, Tobias B. Haack

    Vydáno 2024
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  4. 4
    Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome

    Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome Autor Irina Shchukina, Juhi Bagaitkar, Oleg Shpynov, Ekaterina Loginicheva, Sofia I. Porter, Denis A. Mogilenko, Erica Wolin, Patrick L. Collins, German Demidov, Mykyta Artomov, Konstantin Zaitsev, Sviatoslav Sidorov, Christina D. Camell, Monika Bambousková, Laura Arthur, Amanda Swain, Alexandra Panteleeva, Aleksei Dievskii, Evgeny Kurbatsky, Petr Tsurinov, Roman Chernyatchik, Vishwa Deep Dixit, Marko Jovanović, Sheila A. Stewart, Mark J. Daly, Sergey E. Dmitriev, Eugene M. Oltz, Maxim N. Artyomov

    Vydáno 2020
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  5. 5
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases Autor Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    Vydáno 2023
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  6. 6
    Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

    Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours Autor Ellen Brenner, Barbara F. Schörg, Fatima Ahmetlić, Thomas Wieder, Franz J. Hilke, Nadine Simon, Christopher Schroeder, German Demidov, Tanja Riedel, Birgit Fehrenbacher, Martin Schaller, Andrea Forschner, Thomas Eigentler, Heike Niessner, Tobias Sinnberg, Katharina Böhm, Nadine Hömberg, Heidi Braumüller, Daniel Dauch, Stefan Zwirner, Lars Zender, Dominik Sonanini, Albert Geishauser, Jürgen Bauer, Martin Eichner, Katja J. Jarick, Andreas Beilhack, Saskia Biskup, Dennis Döcker, Dirk Schadendorf, Leticia Quintanilla‐Martínez, Bernd J. Pichler, Manfred Kneilling, Ralph Mocikat, Martin Röcken

    Vydáno 2020
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  7. 7
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes Autor German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    Vydáno 2024
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  8. 8
    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

    Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Autor Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve‐Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan M. Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O’Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Lüdger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sárközy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horváth, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graeßner, Sergi Beltrán, Stephan Ossowski, Lisenka E.L.M. Vissers, Christian Gilissen, Alexander Hoischen

    Vydáno 2024
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  9. 9
    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases Autor Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M. de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A.C. ‘t Hoen, Antonio Vitobello, Julia M. Schulze‐Hentrich, Olaf Rieß, Han G. Brunner, Anthony J. Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloès, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris A. Swertz, Dylan Spalding, Alexander Hoischen, Sergi Beltrán, Holm Graeßner, Tobias B. Haack, Birte Zurek, Kornelia Ellwanger, German Demidov, Marc Sturm, Christoph Keßler, Melanie Wayand, Carlo Wilke, Andreas Traschütz, Lüdger Schöls, Holger Hengel, Peter Heutink, Han G. Brunner, Hans Scheffer, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldız, Tjitske Kleefstra, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton‐Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltrán, Marta Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvò, Carles García, Marcos Fernandez-Callejo, Carles Hernández-Ferrer, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros‐Facer, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem

    Vydáno 2021
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  10. 10
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Autor Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    Vydáno 2025
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