Browsing Universitätsbibliographie by Author "Demidov, German"

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Browsing Universitätsbibliographie by Author "Demidov, German"

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  • Allele balance bias identifies systematic genotyping errors and false disease associations
    Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domenech, Laura; Escaramis, Georgia; Zapata, Luis; Demidov, German; Estivill, Xavier; Rabionet, Raquel; Ossowski, Stephan (2019)
  • An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
    Segarra-Casas, Alba; Yepez, Vicente A.; Demidov, German; Laurie, Steven; Esteve-Codina, Anna; Gagneur, Julien; Parkhurst, Yolande; Muni-Lofra, Robert; Harris, Elizabeth; Marini-Bettolo, Chiara; Straub, Volker; Topf, Ana (2024)
  • Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours
    Brenner, Ellen; Schoerg, Barbara F.; Ahmetlic, Fatima; Wieder, Thomas; Hilke, Franz Joachim; Simon, Nadine; Schroeder, Christopher; Demidov, German; Riedel, Tanja; Fehrenbacher, Birgit; Schaller, Martin; Forschner, Andrea; Eigentler, Thomas; Niessner, Heike; Sinnberg, Tobias; Boehm, Katharina S.; Hoemberg, Nadine; Braumueller, Heidi; Dauch, Daniel; Zwirner, Stefan; Zender, Lars; Sonanini, Dominik; Geishauser, Albert; Bauer, Juergen; Eichner, Martin; Jarick, Katja J.; Beilhack, Andreas; Biskup, Saskia; Doecker, Dennis; Schadendorf, Dirk; Quintanilla-Martinez, Leticia; Pichler, Bernd J.; Kneilling, Manfred; Mocikat, Ralph; Roecken, Martin (2020)
  • Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy
    Zwirner, Kerstin; Hilke, Franz J.; Demidov, German; Ossowski, Stephan; Gani, Cihan; Riess, Olaf; Zips, Daniel; Welz, Stefan; Schroeder, Christopher (2018)
  • Clinical genome sequencing in patients with hereditary breast and ovarian cancer: Concept, implementation and benefits
    Witt, Dennis; Sturm, Marc; Staebler, Antje; Menden, Benita; Ruisinger, Lisa; Bosse, Kristin; Gruber, Ines; Hartkopf, Andreas; Gauss, Silja; Demidov, German; Casadei, Nicolas; Atienza, Elena Buena; Mehnert, Kira; Witt, Janna; Gross, Caspar; Schuetz, Leon; Schroeder, Christopher; Ossowski, Stephan; Dufke, Andreas; Haack, Tobias B.; Riess, Olaf; Faust, Ulrike (2025)
  • Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer
    Sao Jose, Celina; Garcia-Pelaez, Jose; Ferreira, Marta; Arrieta, Oscar; Andre, Ana; Martins, Nelson; Solis, Samantha; Martinez-Benitez, Braulio; Ordonez-Sanchez, Maria Luisa; Rodriguez-Torres, Maribel; Sommer, Anna K.; te Paske, Iris B. A. W. M.; Caldas, Carlos; Tischkowitz, Marc; Tusie, Maria Teresa; Hoogerbrugge, Nicoline; Demidov, German; de Voer, Richarda M.; Laurie, Steve; Oliveira, Carla (2023)
  • Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
    Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
  • Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients
    Hilke, Franz J.; Sinnberg, Tobias; Gschwind, Axel; Niessner, Heike; Demidov, German; Amaral, Teresa; Ossowski, Stephan; Bonzheim, Irina; Roecken, Martin; Riess, Olaf; Garbe, Claus; Schroeder, Christopher; Forschner, Andrea (2020)
  • Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation
    Susak, Hana; Serra-Saurina, Laura; Demidov, German; Rabionet, Raquel; Domenech, Laura; Bosio, Mattia; Muyas, Francesc; Estivill, Xavier; Escaramis, Georgia; Ossowski, Stephan (2021)
  • Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank
    Fawcett, Katherine A.; Demidov, German; Shrine, Nick; Paynton, Megan L.; Ossowski, Stephan; Sayers, Ian; Wain, Louise, V; Hollox, Edward J. (2022)
  • Genomes in clinical care
    Riess, Olaf; Sturm, Marc; Menden, Benita; Liebmann, Alexandra; Demidov, German; Witt, Dennis; Casadei, Nicolas; Admard, Jakob; Schuetz, Leon; Ossowski, Stephan; Taylor, Stacie; Schaffer, Sven; Schroeder, Christopher; Dufke, Andreas; Haack, Tobias (2024)
  • Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
    Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; van Os, Nienke J. H.; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; van de Warrenburg, Bart; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger (2022)
  • MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma
    Forschner, Andrea; Hilke, Franz-Joachim; Bonzheim, Irina; Gschwind, Axel; Demidov, German; Amaral, Teresa; Ossowski, Stephan; Riess, Olaf; Schroeder, Christopher; Martus, Peter; Klumpp, Bernhard; Gonzalez-Menendez, Irene; Garbe, Claus; Niessner, Heike; Sinnberg, Tobias (2020)
  • Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
    Wijngaard, Robin; Demidov, German; O'Gorman, Luke; Corominas-Galbany, Jordi; Yaldiz, Burcu; Steyaert, Wouter; de Boer, Elke; Vissers, Lisenka E. L. M.; Kamsteeg, Erik-Jan; Pfundt, Rolph; Swinkels, Hilde; den Ouden, Amber; te Paske, Iris B. A. W.; de Voer, Richarda M.; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Duffourd, Yannis; Vitobello, Antonio; Chevarin, Martin; Straub, Volker; Toepf, Ana; van der Kooi, Anneke J.; Magrinelli, Francesca; Rocca, Clarissa; Hanna, Michael G.; Vandrovcova, Jana; Ossowski, Stephan; Laurie, Steven; Gilissen, Christian (2024)
  • Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
    Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Boesch, Annemarie; Weiss, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Buehrer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schuelke, Markus; Hoa Huu Phuc Nguyen; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Muecke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, Andre; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schaefer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Oender, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Basin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Koerholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schroeck, Evelin; Heinen, Andre; Reuner, Ulrike; Hansske, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian (2024)
  • Pan-cancer analysis of whole genomes
    Campbell, Peter J.; Getz, Gad; Korbel, Jan O.; Stuart, Joshua M.; Jennings, Jennifer L.; Stein, Lincoln D.; Perry, Marc D.; Nahal-Bose, Hardeep K.; Ouellette, B. F. Francis; Li, Constance H.; Rheinbay, Esther; Nielsen, G. Petur; Sgroi, Dennis C.; Wu, Chin-Lee; Faquin, William C.; Deshpande, Vikram; Boutros, Paul C.; Lazar, Alexander J.; Hoadley, Katherine A.; Louis, David N.; Dursi, L. Jonathan; Yung, Christina K.; Bailey, Matthew H.; Saksena, Gordon; Raine, Keiran M.; Buchhalter, Ivo; Kleinheinz, Kortine; Schlesner, Matthias; Zhang, Junjun; Wang, Wenyi; Wheeler, David A.; Ding, Li; Simpson, Jared T.; O'Connor, Brian D.; Yakneen, Sergei; Ellrott, Kyle; Miyoshi, Naoki; Butler, Adam P.; Royo, Romina; Shorser, Solomon, I; Vazquez, Miguel; Rausch, Tobias; Tiao, Grace; Waszak, Sebastian M.; Rodriguez-Martin, Bernardo; Shringarpure, Suyash; Wu, Dai-Ying; Demidov, German M.; Delaneau, Olivier; Hayashi, Shuto; Imoto, Seiya; Habermann, Nina; Segre, Ayellet, V; Garrison, Erik; Cafferkey, Andy; Alvarez, Eva G.; Maria Heredia-Genestar, Jose; Muyas, Francesc; Drechsel, Oliver; Bruzos, Alicia L.; Temes, Javier; Zamora, Jorge; Baez-Ortega, Adrian; Kim, Hyung-Lae; Mashl, R. Jay; Ye, Kai; DiBiase, Anthony; Huang, Kuan-lin; Letunic, Ivica; McLellan, Michael D.; Newhouse, Steven J.; Shmaya, Tal; Kumar, Sushant; Wedge, David C.; Wright, Mark H.; Yellapantula, Venkata D.; Gerstein, Mark; Khurana, Ekta; Marques-Bonet, Tomas; Navarro, Arcadi; Bustamante, Carlos D.; Siebert, Reiner; Nakagawa, Hidewaki; Easton, Douglas F.; Ossowski, Stephan; Tubio, Jose M. C.; De La Vega, Francisco M.; Estivill, Xavier; Yuen, Denis; Mihaiescu, George L.; Omberg, Larsson; Ferretti, Vincent; Sabarinathan, Radhakrishnan; Pich, Oriol; Gonzalez-Perez, Abel; Weiner, Amaro Taylor; Fittall, Matthew W.; Demeulemeester, Jonas; Tarabichi, Maxime; Roberts, Nicola D.; Van Loo, Peter (2020)
  • Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D
    Zwirner, Kerstin; Hilke, Franz J.; Demidov, German; Fernandez, Jairo Socarras; Ossowski, Stephan; Gani, Cihan; Thorwarth, Daniela; Riess, Olaf; Zips, Daniel; Schroeder, Christopher; Welz, Stefan (2019)
  • Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
    Demidov, German; Laurie, Steven; Torella, Annalaura; Piluso, Giulio; Scala, Marcello; Morleo, Manuela; Nigro, Vincenzo; Graessner, Holm; Banka, Siddharth; Lohmann, Katja; Ossowski, Stephan (2024)
  • Systematic assessment of COVID-19 host genetics using whole genome sequencing data
    Schmidt, Axel; Casadei, Nicolas; Brand, Fabian; Demidov, German; Vojgani, Elaheh; Abolhassani, Ayda; Aldisi, Rana; Butler-Laporte, Guillaume; Alawathurage, T. Madhusankha; Augustin, Max; Bals, Robert; Bellinghausen, Carla; Berger, Marc Moritz; Bitzer, Michael; Bode, Christian; Boos, Jannik; Brenner, Thorsten; Cornely, Oliver A.; Eggermann, Thomas; Erber, Johanna; Feldt, Torsten; Fuchsberger, Christian; Gagneur, Julien; Goepel, Siri; Haack, Tobias; Haeberle, Helene; Hanses, Frank; Heggemann, Julia; Hehr, Ute; Hellmuth, Johannes C.; Herr, Christian; Hinney, Anke; Hoffmann, Per; Illig, Thomas; Jensen, Bjoern-Erik Ole; Keitel, Verena; Kim-Hellmuth, Sarah; Koehler, Philipp; Kurth, Ingo; Lanz, Anna-Lisa; Latz, Eicke; Lehmann, Clara; Luedde, Tom; Maj, Carlo; Mian, Michael; Miller, Abigail; Muenchhoff, Maximilian; Pink, Isabell; Protzer, Ulrike; Rohn, Hana; Rybniker, Jan; Scaggiante, Federica; Schaffeldt, Anna; Scherer, Clemens; Schieck, Maximilian; Schmidt, Susanne V.; Schommers, Philipp; Spinner, Christoph D.; Vehreschild, Maria J. G. T.; Velavan, Thirumalaisamy P.; Volland, Sonja; Wilfling, Sibylle; Winter, Christof; Richards, J. Brent; Heimbach, Andre; Becker, Kerstin; Ossowski, Stephan; Schultze, Joachim L.; Nuernberg, Peter; Noethen, Markus M.; Motameny, Susanne; Nothnagel, Michael; Riess, Olaf; Schulte, Eva C.; Ludwig, Kerstin U. (2024)
  • Titin copy number variations associated with dominant inherited phenotypes
    Perrin, Aurelien; Metay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Sole, Guilhem; Pereon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Francoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Marechal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A.; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisele; Cossee, Mireille (2024)