Not logged in SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome Bundalian, Linnaeus; Strnadova, Martina Schmidt; Garten, Felix; Horn, Susanne; Stenzel, Udo; Popp, Denny; Lemke, Johannes R.; Biskup, Saskia; Schulte, Bjorn; May, Patrick; Bosebeck, Frank; Garten, Antje; Thor, Doreen; Schulz, Angela; Hentschel, Julia; Kelso, Janet; Schoneberg, Torsten; Le duc, Diana Share Save
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Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative Henkel, Jan; Laner, Andreas; Locher, Melanie; Wohlfrom, Tobias; Neitzel, Birgit; Becker, Kerstin; Neuhann, Teresa; Abicht, Angela; Steinke-Lange, Verena; Klink, Barbara; Eichhorn, Birgit; Schmidt, Winfried; Berner, Daniel; Teubert, Anna; Holtorf, Anne; Heinrich, Sarah; Wildhardt, Gabriele; Schulze, Martin; von der Heyden, Laura; Hoertnagel, Konstanze; Steinberger, Daniela; Kleier, Saskia; Lorenz, Peter; Glaubitz, Ralf; Biskup, Saskia; Holinski-Feder, Elke Share Save
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome Schottmann, Gudrun; Almudever, Carmen Martinez; Knop, Julia C. M.; Suk, Eun Kyung; Meyer, Zianka; Kohlhase, Jurgen; Himmelreich, Nastassja; Kuehnisch, Jirko; Ott, Claus-Eric; Seifert, Wenke Share Save
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A RETROLECTIVE ANALYSIS ON THE SAFETY, EFFICACY AND IMMUNOGENICITY OF 203 GLIOBLASTOMA PATIENTS TREATED WITH PERSONALIZED THERAPEUTIC CANCER VACCINES (PTCV) Latzer, Pauline; Zelba, Henning; Battke, Florian; Bartsch, Oliver; Reinhardt, Annekathrin; Pertuch, Eike; Shao, Borong; Rabsteyn, Armin; Okech, Thomas; Golf, Alexander; Kyzirakos-Feger, Christina; Kayser, Simone; Feldhahn, Magdalena; Wuensche, Julian; Hadaschik, Dirk; Goette, Dieter; Biskup, Saskia Share Save
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy Bodenbender, Jan-Philipp; Bethge, Leon; Stingl, Katarina; Mazzola, Pascale; Haack, Tobias; Biskup, Saskia; Wissinger, Bernd; Weisschuh, Nicole; Kohl, Susanne; Kuehlewein, Laura Share Save
Management of the Uninvolved Uterus and Adnexa During Routine Pelvic Peritonectomy in Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Varies by Histology and Menopausal Status: An International Survey of Peritoneal Surface Malignancy Surgeons Winicki, Nolan M.; Radomski, Shannon N.; Florissi, Isabella S.; Wethington, Stephanie; de Hingh, Ignace; Villeneuve, Laurent; Glehen, Olivier; Esquivel, Jesus; Bhatt, Aditi; Johnston, Fabian M.; Greer, Jonathan B. Share Save
Novel variants in the SOX11 gene: clinical description of seven new patients Schincariol-Manhe, Beatriz; Campagnolo, Erica; Spineli-Silva, Samira; de Leeuw, Nicole; Correia-Costa, Gabriela Roldao; Pessoa, Andre; de Souza, Carolina Fischinger Moura; Stevens, Cathy; Javaher, Poupak; Scallet, Helena Fabbri; Mohr, Julia; Biskup, Saskia; Herkert, Johanna C.; Pfundt, Rolph; Mehta, Lakshmi; Rekab, Aisha; Elloumi, Houda Zghal; Sanyoura, May; Maciel-Guerra, Andrea Trevas; Gil-da-Silva-Lopes, Vera Lucia; dos Santos, Ana Mondadori; Vieira, Tarsis Paiva Share Save
A real-world observation of patients with glioblastoma treated with a personalized peptide vaccine Latzer, Pauline; Zelba, Henning; Battke, Florian; Reinhardt, Annekathrin; Shao, Borong; Bartsch, Oliver; Rabsteyn, Armin; Harter, Johannes; Schulze, Martin; Okech, Thomas; Golf, Alexander; Kyzirakos-Feger, Christina; Kayser, Simone; Pieper, Natalia; Feldhahn, Magdalena; Wuensche, Julian; Seitz, Christian; Hadaschik, Dirk; Garbe, Claus; Hauser, Till-Karsten; la Fougere, Christian; Biskup, Dirk; Brooke, Dawn; Parker, David; Martens, Uwe M.; Illerhaus, Gerald; Blumenthal, Deborah T.; Merrell, Ryan; Lorenzo, Luisa Sanchez; Hidvegi, Mate; de Robles, Paula; Kebir, Sied; Li, William W.; Li, Vincent W.; Williams, Matthew; Miller, Alexandra M.; Kesari, Santosh; Castro, Michael; Desjardins, Annick; Ashley, David M.; Friedman, Henry S.; Wen, Patrick Y.; Neil, Elisabeth C.; Iwamoto, Fabio M.; Sipos, Bence; Geletneky, Karsten; Zender, Lars; Glas, Martin; Reardon, David A.; Biskup, Saskia Share Save
Case Report: Long-Term Survival of a Patient with Cerebral Metastasized Ovarian Carcinoma Treated with a Personalized Peptide Vaccine and Anti-PD-1 Therapy Zelba, Henning; Kyzirakos, Christina; Kayser, Simone; Shao, Borong; Reinhardt, Annekathrin; Pieper, Natalia; Rabsteyn, Armin; Doecker, Dennis; Armeanu-Ebinger, Sorin; Kloor, Matthias; Hadaschik, Dirk; Schulze, Martin; Battke, Florian; Golf, Alexander; Biskup, Saskia Share Save
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants Wortmann, Saskia B.; Feichtinger, Rene G.; Abela, Lucia; van Gemert, Loes A.; Aubart, Melodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stuehn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Muehlhausen, Chris; Rio, Marlene; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B.; Syrbe, Steffen; Zylicz, Stas A.; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A.; Wevers, Ron A.; Boltshauser, Eugen; Willemsen, Michel A. Share Save
A second hotspot for pathogenic exon-skipping variants in CDC45 Schoch, Kelly; Ruegg, Mischa S. G.; Fellows, Bridget J.; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R. A.; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M.; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S. Share Save
The molecular interaction pattern of lenvatinib enables inhibition of wild-type or kinase-mutated FGFR2-driven cholangiocarcinoma Spahn, Stephan; Kleinhenz, Fabian; Shevchenko, Ekaterina; Stahl, Aaron; Rasen, Yvonne; Geisler, Christine; Ruhm, Kristina; Klaumuenzer, Marion; Kronenberger, Thales; Laufer, Stefan A.; Sundberg-Malek, Holly; Bui, Khac Cuong; Horger, Marius; Biskup, Saskia; Schulze-Osthoff, Klaus; Templin, Markus; Malek, Nisar P.; Poso, Antti; Bitzer, Michael Share Save
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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA- synthetase (TARS2)-related disorder Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Muehlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegra, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Araoz, Hilda Veronica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; Mcdunnah, Paige; Horvath, Rita; Cogne, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Stergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza Share Save
Tubingen model study: large-scale introduction of rapid antigen testing in the population and the viral dynamics of SARS-CoV-2 Ayran, Jule; Koehler, Carsten; Linh, Le Thi Kieu; Schneider, Gisela; Pallerla, Srinivas Reddy; Battke, Florian; Federle, Lisa; Martus, Peter; Kremsner, Peter G.; Velavan, Thirumalaisamy P. Share Save
Case Report: Targeting of individual somatic tumor mutations by multipeptide vaccination tailored for HLA class I and II presentation induces strong CD4 and CD8 T-cell responses in a patient with metastatic castration sensitive prostate cancer Zelba, Henning; Rabsteyn, Armin; Bartsch, Oliver; Kyzirakos, Christina; Kayser, Simone; Seibold, Marcel; Harter, Johannes; Latzer, Pauline; Hadaschik, Dirk; Battke, Florian; Golf, Alexander; Rettig, Matthew B.; Biskup, Saskia Share Save
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy (vol 24 , pg 2079 , 2022) 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; Downes, Susan M.; Nemeth, Andrea H.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Nguyen, Huu Phuc; 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; Schols, Ludger; Houlden, Henry; Haack, Tobias B.; Hengel, Holger Share Save
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