Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups
Weller, Michael, Weber, Ruthild G., Willscher, Edith, Riehmer, Vera, Hentschel, Bettina, Kreuz, Markus, Felsberg, Jörg, Beyer, Ulrike, Löffler-Wirth, Henry, Kaulich, Kerstin, Steinbach, Joachim P., Hartmann, Christian, Gramatzki, Dorothee, Schramm, Johannes, Westphal, Manfred, Schackert, Gabriele, Simon, Matthias, Martens, Tobias, Boström, Jan, Hagel, Christian, Sabel, Michael, Krex, Dietmar, Tonn, Jörg C., Wick, Wolfgang, Noell, Susan, Schlegel, Uwe, Radlwimmer, Bernhard, Pietsch, Torsten, Loeffler, Markus, von Deimling, Andreas, Binder, Hans, Reifenberger, Guido
Published in Acta neuropathologica (01.05.2015)
Published in Acta neuropathologica (01.05.2015)
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Molecular characterization of long‐term survivors of glioblastoma using genome‐ and transcriptome‐wide profiling
Reifenberger, Guido, Weber, Ruthild G., Riehmer, Vera, Kaulich, Kerstin, Willscher, Edith, Wirth, Henry, Gietzelt, Jens, Hentschel, Bettina, Westphal, Manfred, Simon, Matthias, Schackert, Gabriele, Schramm, Johannes, Matschke, Jakob, Sabel, Michael C., Gramatzki, Dorothee, Felsberg, Jörg, Hartmann, Christian, Steinbach, Joachim P., Schlegel, Uwe, Wick, Wolfgang, Radlwimmer, Bernhard, Pietsch, Torsten, Tonn, Jörg C., von Deimling, Andreas, Binder, Hans, Weller, Michael, Loeffler, Markus
Published in International journal of cancer (15.10.2014)
Published in International journal of cancer (15.10.2014)
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FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study
Osmanovic, Alma, Rangnau, Isolde, Kosfeld, Anne, Abdulla, Susanne, Janssen, Claas, Auber, Bernd, Raab, Peter, Preller, Matthias, Petri, Susanne, Weber, Ruthild G
Published in European journal of human genetics : EJHG (01.02.2017)
Published in European journal of human genetics : EJHG (01.02.2017)
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A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics
Osmanovic, Alma, Förster, Alisa, Widjaja, Maylin, Auber, Bernd, Das, Anibh M., Christians, Anne, Brand, Frank, Petri, Susanne, Weber, Ruthild G.
Published in Journal of neurology (01.09.2022)
Published in Journal of neurology (01.09.2022)
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Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies
Christians, Anne, Weiss, Anna-Carina, Martens, Helge, Klopf, Maximilian Georg, Hennies, Imke, Haffner, Dieter, Kispert, Andreas, Weber, Ruthild G
Published in Human molecular genetics (08.05.2020)
Published in Human molecular genetics (08.05.2020)
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Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2
Christians, Anne, Kesdiren, Esra, Hennies, Imke, Hofmann, Alejandro, Trowe, Mark-Oliver, Brand, Frank, Martens, Helge, Gjerstad, Ann Christin, Gucev, Zoran, Zirngibl, Matthias, Geffers, Robert, Seeman, Tomáš, Billing, Heiko, Bjerre, Anna, Tasic, Velibor, Kispert, Andreas, Ure, Benno, Haffner, Dieter, Dingemann, Jens, Weber, Ruthild G.
Published in Human genetics (01.01.2023)
Published in Human genetics (01.01.2023)
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SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia
Osmanovic, Alma, Widjaja, Maylin, Förster, Alisa, Weder, Julia, Wattjes, Mike P., Lange, Inken, Sarikidi, Anastasia, Auber, Bernd, Raab, Peter, Christians, Anne, Preller, Matthias, Petri, Susanne, Weber, Ruthild G.
Published in Journal of neurology (01.09.2020)
Published in Journal of neurology (01.09.2020)
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Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations
Kosfeld, Anne, Brand, Frank, Weiss, Anna-Carina, Kreuzer, Martin, Goerk, Michaela, Martens, Helge, Schubert, Stephanie, Schäfer, Anne-Kathrin, Riehmer, Vera, Hennies, Imke, Bräsen, Jan Hinrich, Pape, Lars, Amann, Kerstin, Krogvold, Lars, Bjerre, Anna, Daniel, Christoph, Kispert, Andreas, Haffner, Dieter, Weber, Ruthild G
Published in Human molecular genetics (01.05.2017)
Published in Human molecular genetics (01.05.2017)
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Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract
Kesdiren, Esra, Martens, Helge, Brand, Frank, Werfel, Lina, Wedekind, Lukas, Trowe, Mark-Oliver, Schmitz, Jessica, Hennies, Imke, Geffers, Robert, Gucev, Zoran, Seeman, Tomáš, Schmidt, Sonja, Tasic, Velibor, Fasano, Laurent, Bräsen, Jan H, Kispert, Andreas, Christians, Anne, Haffner, Dieter, Weber, Ruthild G
Published in European journal of human genetics : EJHG (17.10.2024)
Published in European journal of human genetics : EJHG (17.10.2024)
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FOCAD loss impacts microtubule assembly, G2/M progression and patient survival in astrocytic gliomas
Brand, Frank, Förster, Alisa, Christians, Anne, Bucher, Martin, Thomé, Carina M., Raab, Marc S., Westphal, Manfred, Pietsch, Torsten, von Deimling, Andreas, Reifenberger, Guido, Claus, Peter, Hentschel, Bettina, Weller, Michael, Weber, Ruthild G.
Published in Acta neuropathologica (2020)
Published in Acta neuropathologica (2020)
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Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Assia Batzir, Nurit, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Sofrin-Drucker, Efrat, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V., Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Schlosser, Pascal, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, Hrabe de Angelis, Martin, Ćomić, Jasmina, Akgün Doğan, Özlem, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Orenstein, Naama, Çalışkan, Salim, Weber, Ruthild G., Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Basel-Salmon, Lina, Borovitz, Yael, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian W., Renders, Lutz, Schmaderer, Christoph, Rogg, Manuel, Schell, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian J., Ozaltin, Fatih, Schmidts, Miriam, Hoefele, Julia
Published in Kidney international (01.04.2024)
Published in Kidney international (01.04.2024)
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Rare heterozygous GDF6 variants in patients with renal anomalies
Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S, Haffner, Dieter, Weber, Ruthild G
Published in European journal of human genetics : EJHG (01.12.2020)
Published in European journal of human genetics : EJHG (01.12.2020)
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Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis
Beyer, Ulrike, Brand, Frank, Martens, Helge, Weder, Julia, Christians, Arne, Elyan, Natalie, Hentschel, Bettina, Westphal, Manfred, Schackert, Gabriele, Pietsch, Torsten, Hong, Bujung, Krauss, Joachim K., Samii, Amir, Raab, Peter, Das, Anibh, Dumitru, Claudia A., Sandalcioglu, I. Erol, Hakenberg, Oliver W., Erbersdobler, Andreas, Lehmann, Ulrich, Reifenberger, Guido, Weller, Michael, Reijns, Martin A. M., Preller, Matthias, Wiese, Bettina, Hartmann, Christian, Weber, Ruthild G.
Published in Acta neuropathologica (01.12.2017)
Published in Acta neuropathologica (01.12.2017)
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Rare germline variants in the E-cadherin gene CDH1 are associated with the risk of brain tumors of neuroepithelial and epithelial origin
Förster, Alisa, Brand, Frank, Banan, Rouzbeh, Hüneburg, Robert, Weber, Christine A. M., Ewert, Wiebke, Kronenberg, Jessica, Previti, Christopher, Elyan, Natalie, Beyer, Ulrike, Martens, Helge, Hong, Bujung, Bräsen, Jan H., Erbersdobler, Andreas, Krauss, Joachim K., Stangel, Martin, Samii, Amir, Wolf, Stephan, Preller, Matthias, Aretz, Stefan, Wiese, Bettina, Hartmann, Christian, Weber, Ruthild G.
Published in Acta neuropathologica (01.07.2021)
Published in Acta neuropathologica (01.07.2021)
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Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families
Weber, Christine A. M., Krönke, Nicole, Volk, Valery, Auber, Bernd, Förster, Alisa, Trost, Detlef, Geffers, Robert, Esmaeilzadeh, Majid, Lalk, Michael, Nabavi, Arya, Samii, Amir, Krauss, Joachim K., Feuerhake, Friedrich, Hartmann, Christian, Wiese, Bettina, Brand, Frank, Weber, Ruthild G.
Published in Acta neuropathologica communications (21.11.2023)
Published in Acta neuropathologica communications (21.11.2023)
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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Brockschmidt, Antje, Todt, Unda, Ryu, Soojin, Hoischen, Alexander, Landwehr, Christina, Birnbaum, Stefanie, Frenck, Wilhelm, Radlwimmer, Bernhard, Lichter, Peter, Engels, Hartmut, Driever, Wolfgang, Kubisch, Christian, Weber, Ruthild G.
Published in Human molecular genetics (15.06.2007)
Published in Human molecular genetics (15.06.2007)
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Sustained response to bevacizumab in a patient with mosaic neurofibromatosis type 2 carrying the NF2 :c.784C>T p.(Arg262) variant
Basenach, Elena, Förster, Alisa, Raab, Peter, Alzein, Samer, Schmidt, Gunnar, Krauss, Joachim K, Schlegelberger, Brigitte, Heidenreich, Fedor, Auber, Bernd, Hartmann, Christian, Wiese, Bettina, Weber, Ruthild G
Published in Clinical neuropathology (01.07.2022)
Published in Clinical neuropathology (01.07.2022)
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Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization
WEBER, Stefanie, LANDWEHR, Christina, RENKERT, Miriam, HOISCHEN, Alexander, WÜHL, Elke, DENECKE, Jonas, RADLWIMMER, Bernhard, HAFFNER, Dieter, SCHAEFER, Franz, WEBER, Ruthild G
Published in Nephrology, dialysis, transplantation (01.01.2011)
Published in Nephrology, dialysis, transplantation (01.01.2011)
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Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)
Kosfeld, Anne, Kreuzer, Martin, Daniel, Christoph, Brand, Frank, Schäfer, Anne-Kathrin, Chadt, Alexandra, Weiss, Anna-Carina, Riehmer, Vera, Jeanpierre, Cécile, Klintschar, Michael, Bräsen, Jan Hinrich, Amann, Kerstin, Pape, Lars, Kispert, Andreas, Al-Hasani, Hadi, Haffner, Dieter, Weber, Ruthild G.
Published in Human genetics (01.01.2016)
Published in Human genetics (01.01.2016)
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Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients
Osmanovic, Alma, Gogol, Isabel, Martens, Helge, Widjaja, Maylin, Müller, Kathrin, Schreiber-Katz, Olivia, Feuerhake, Friedrich, Langhans, Claus-Dieter, Schmidt, Gunnar, Andersen, Peter M, Ludolph, Albert C, Weishaupt, Jochen H, Brand, Frank, Petri, Susanne, Weber, Ruthild G
Published in Genes (01.01.2022)
Published in Genes (01.01.2022)
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