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Anzahl der Publikationen: 12
Zeitschriftenartikel
Westphal, Dominik S.; Mastantuono, Elisa; Seidel, Heide; Riedhammer, Korbinian M.; Hahn, Andreas; Vill, Katharina und Wagner, Matias
(2022):
There is more to it than just congenital heart defects - The phenotypic spectrum of TAB2-related syndrome.
In: Gene, Bd. 814, 146167
Drovandi, Stefania; Lipska-Zietkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Zietkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stanczyk, Malgorzata; Balasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Trautmann, Agnes; Tabatabaeifar, Mansoureh; Gheissari, Alaleh; Hooman, Nakysa; Benetti, Elisa; Emma, Francesco; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Tsygin, Alexey N.; Prikhodina, Larisa; Bogdanovic, Radovan; Mir, Sevgi; Fomina, Svitlana; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei und Schaefer, Franz
(2022):
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
In: Kidney International, Bd. 102, Nr. 3: S. 592-603
Stippel, Michaela; Riedhammer, Korbinian M.; Lange-Sperandio, Barbel; Gessner, Michaela; Braunisch, Matthias C.; Gunthner, Roman; Bald, Martin; Schmidts, Miriam; Strotmann, Peter; Tasic, Velibor; Schmaderer, Christoph; Renders, Lutz; Heemann, Uwe und Hoefele, Julia
(26. Mai 2021):
Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.
In: Frontiers in Genetics, Bd. 12, 642849
[PDF, 727kB]
Brunet, Theresa; Jech, Robert; Brugger, Melanie; Kovacs, Reka; Alhaddad, Bader; Leszinski, Gloria; Riedhammer, Korbinian M.; Westphal, Dominik S.; Mahle, Isabella; Mayerhanser, Katharina; Skorvanek, Matej; Weber, Sandrina; Graf, Elisabeth; Berutti, Riccardo; Necpal, Jan; Havrankova, Petra; Pavelekova, Petra; Hempel, Maja; Kotzaeridou, Urania; Hoffmann, Georg F.; Leiz, Steffen; Makowski, Christine; Roser, Timo; Schroeder, Sebastian A.; Steinfeld, Robert; Strobl-Wildemann, Gertrud; Hoefele, Julia; Borggraefe, Ingo; Distelmaier, Felix; Strom, Tim M.; Winkelmann, Juliane; Meitinger, Thomas; Zech, Michael und Wagner, Matias
(2021):
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
In: Clinical Genetics, Bd. 100, Nr. 1: S. 14-28
[PDF, 2MB]
Huellen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, Rene G.; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M.; Santer, Rene; Herget, Theresia; Rennings, Alexander; Lefeber, Dirk J.; Mayr, Johannes A.; Thiel, Christian und Wortmann, Saskia B.
(2021):
Congenital disorders of glycosylation with defective fucosylation.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 6: S. 1441-1452
Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; Lee, Robin van der; Karnebeek, Clara D. van; Meitinger, Thomas; Krageloh-Mann, Ingeborg und Vill, Katharina
(2021):
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
In: Brain, Bd. 144: S. 411-419
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Disteimaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V.; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic
(2020):
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M.; Tonshoff, Burkhard; Ehren, Rasmus; Pape, Lars; Latta, Kay; Fehrenbach, Henry; Lange-Sperandio, Baerbel; Kettwig, Matthias; Hoyer, Peter; Staude, Hagen; Konrad, Martin; John, Ulrike; Gellermann, Jutta; Hoppe, Bernd; Galiano, Matthias; Gessner, Michaela; Pohl, Michael; Bergmann, Carsten; Friede, Tim und Gross, Oliver
(2020):
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
In: Clinical Genetics, Bd. 99, Nr. 1: S. 143-156
Radelfahr, Florentine; Riedhammer, Korbinian M.; Keidel, Leonie F.; Gramer, Gwendolyn; Meitinger, Thomas; Klopstock, Thomas und Wagner, Matias
(2020):
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
In: Neurology-Genetics, Bd. 6, Nr. 6, e525
[PDF, 187kB]
Riedhammer, Korbinian M.; Braunisch, Matthias C.; Guenthner, Roman; Wagner, Matias; Hemmer, Clara; Strom, Tim M.; Schmaderer, Christoph; Renders, Lutz; Tasic, Velibor; Gucev, Zoran; Nushi-Stavileci, Valbona; Putnik, Jovana; Stajic, Natasa; Weidenbusch, Marc; Uetz, Barbara; Montoya, Carmen; Strotmann, Peter; Ponsel, Sabine; Lange-Sperandio, Baerbel und Hoefele, Julia
(2020):
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
In: American Journal of Kidney Diseases, Bd. 76, Nr. 4: S. 460-470
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpal, Jan; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fecikova, Anna; Havrankova, Petra; Roth, Jan; Prihodova, Iva; Adamovicova, Miriam; Ulmanova, Olga; Bechyne, Karel; Danhofer, Pavlina; Vesely, Branislav; Han, Vladimir; Pavelekova, Petra; Gdovinova, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schroeder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaefa; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Svantnerova, Jana; Minar, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H.; Pajusalu, Sander; Ounap, Katrin; Schatz, Ulrich A.; Poelsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilhofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S.; Riedhammer, Korbinian M.; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E.; Zamora, Francisca Milian; Henderson, Lindsay B.; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M.; Ozelius, Laurie J.; Vetro, Annafisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B.; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Ruzicka, Evzen; Cohn, Ronald D.; Dyment, David; Chung, Wendy K.; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafai; Daumke, Ofiver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad und Winkehnann, Juliane
(2020):
Monogenic variants in dystonia: an exome-wide sequencing study.
In: Lancet Neurology, Bd. 19, Nr. 11: S. 908-918
[PDF, 1MB]