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Anzahl der Publikationen: 6
Zeitschriftenartikel
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas und Staufner, Christian
(2021):
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1781-1793
Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J.; Prader, Seraina; Gao, Xianfei; Schuch, Luise A.; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T.; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D.; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klambt, Verena; Soliman, Neveen A.; Hardenberg, Sandra von; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Haffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Gungor, Tayfun; Buckley, Michael F.; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias und Schmid, Jana Pachlopnik
(2021):
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 148, Nr. 2: S. 381-393
Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas
(2020):
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638
Lenz, Dominic; Stahl, Mirjam; Seidl, Elias; Schoendorf, Dominik; Brennenstuhl, Heiko; Gesenhues, Florian; Heinzmann, Tina; Longerich, Thomas; Mendes, Marisa I.; Prokisch, Holger; Salomons, Gajja S.; Schoen, Carola; Smith, Desiree E. C.; Sommerburg, Olaf; Wagner, Matias; Westhoff, Jens H.; Reiter, Karl; Staufner, Christian und Griese, Matthias
(2020):
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants.
In: Pediatric Pulmonology, Bd. 55, Nr. 11: S. 3057-3066
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