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362 results on '"Hoffmann Georg"'

1. Using machine learning techniques for exploration and classification of laboratory data

Author

Trulson Inga, Holdenrieder Stefan, and Hoffmann Georg

Subjects
k-means, machine learning, principal component analysis, random forest, decision tree, Medical technology, R855-855.5
Abstract

The study aims to acquaint readers with six widely used machine learning (ML) techniques (Principal Component Analysis (PCA), Uniform Manifold Approximation and Projection (UMAP), k-means, hierarchical clustering and the decision tree models (rpart and random forest)) that might be useful for the analysis of laboratory data.

Published
2024
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2. How Gaussian mixture modelling can help to verify reference intervals from laboratory data with a high proportion of pathological values

Author

Hoffmann Georg, Allmeier Nina, Kuti Modupe, Holdenrieder Stefan, and Trulson Inga

Subjects
machine learning, reference interval, gaussian mixture modelling, reflimr, refiner, Medical technology, R855-855.5
Abstract

Although there are several indirect methods that can be used to verify reference limits, they have a common weakness in that they assume a low proportion of pathological values. This paper investigates whether a Gaussian decomposition algorithm can identify the non-pathological fraction even if it is not the main subset of mixed data.

Published
2024
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5. Enabling two-dimensional electron gas with high room-temperature electron mobility exceeding 100 cm$^2$/Vs at a perovskite oxide interface

Author

Hoffmann, Georg, Zupancic, Martina, Riaz, Aysha A., Kalha, Curran, Schlueter, Christoph, Gloskovskii, Andrei, Regoutz, Anna, Albrecht, Martin, Nordlander, Johanna, and Bierwagen, Oliver

Subjects
Condensed Matter - Mesoscale and Nanoscale Physics, Condensed Matter - Materials Science
Abstract

In perovskite oxide heterostructures, bulk functional properties coexist with emergent physical phenomena at epitaxial interfaces. Notably, charge transfer at the interface between two insulating oxide layers can lead to the formation of a two-dimensional electron gas (2DEG) with possible applications in, e.g., high-electronmobility transistors and ferroelectric field-effect transistors. So far, the realization of oxide 2DEGs is, however, largely limited to the interface between the single-crystal substrate and epitaxial film, preventing their deliberate placement inside a larger device architecture. Additionally, the substrate-limited quality of perovskite oxide interfaces hampers room-temperature 2DEG performance due to notoriously low electron mobility. In this work, we demonstrate the controlled creation of an interfacial 2DEG at the epitaxial interface between perovskite oxides BaSnO$_3$ and LaInO$_3$ with enhanced room-temperature electron mobilities up to 119 cm$^2$/Vs - the highest room-temperature value reported so far for a perovskite oxide 2DEG. Using a combination of state-of-the-art deposition modes during oxide molecular beam epitaxy, our approach opens up another degree of freedom in optimization and $in$-$situ$ control of the interface between two epitaxial oxide layers away from the substrate interface. We thus expect our approach to apply to the general class of perovskite oxide 2DEG systems and to enable their improved compatibility with novel device concepts and integration across materials platforms., Comment: article including supplementary information

Published
2024
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8. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Author

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, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, 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, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, and Wagner, Matias

Published
2024
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13. Adsorption-controlled plasma-assisted molecular beam epitaxy of LaInO3 on DyScO3(110): Growth window, strain relaxation, and domain pattern

Author

Hoffmann, Georg, Zupancic, Martina, Klimm, Detlef, Schewski, Robert, Albrecht, Martin, Ramsteiner, Manfred, and Bierwagen, Oliver

Subjects
Condensed Matter - Materials Science, Physics - Applied Physics
Abstract

We report the growth of epitaxial LaInO3 on DyScO3(110) substrates by adsorption-controlled plasma-assisted molecular beam epitaxy (PA-MBE). The adsorption-controlled growth was monitored using line-of-sight quadrupole mass spectrometry. In a thermodynamics of MBE (TOMBE) diagram, the experimental growth window was found to be significantly narrower than the predicted one. We found the critical thickness for strain relaxation of the LaInO3 layer (lattice mismatch $\approx$ -4$\%$) to be of 1 nm using in-situ RHEED analysis. Substrate and film possess an orthorhombic crystal structure which can be approximated by a pseudo-cubic lattice. X-ray-diffraction (XRD) analysis revealed the pseudo-cube-on-pseudo-cube epitaxial relationship ofthe LaInO3 films to the DyScO3 substrates. This relation was confirmed by transmission electron microscopy (TEM), which further resolved the presence of rotational orthorhombic domains - the majority of which have coinciding c-axis with that of the substrate. Raman spectroscopy further confirmed the presence of a LaInO3 layer. Our findings open up the possibility for 2-dimensional electron gases at the MBE-grown heterointerface with BaSnO3., Comment: 9 pages, 11 figures

Published
2022

16. Epitaxial synthesis of unintentionally doped p-type SnO (001) via suboxide molecular beam epitaxy

Author

Egbo, Kingsley, Luna, Esperanza, Lähnemann, Jonas, Hoffmann, Georg, Trampert, Achim, Grümbel, Jona, Kluth, Elias, Feneberg, Martin, Goldhahn, Rüdiger, and Bierwagen, Oliver

Subjects
Condensed Matter - Materials Science
Abstract

By employing a mixed SnO$_2$+Sn source, we demonstrate suboxide molecular beam epitaxy growth of phase-pure single crystalline metastable SnO(001) thin films at a growth rate of ~1.0nm/min without the need for additional oxygen. These films grow epitaxially across a wide substrate temperature range from 150 to 450{\deg}C. Hence, we present an alternative pathway to overcome the limitations of high Sn or SnO$_2$ cell temperatures and narrow growth windows encountered in previous MBE growth of metastable SnO. In-situ laser reflectometry and line-of-sight quadrupole mass spectrometry were used to investigate the rate of SnO desorption as a function of substrate temperature. While SnO ad-molecules desorption at Ts = 450{\deg}C was growth-rate limiting,the SnO films did not desorb at this temperature after growth in vacuum. The SnO (001) thin films are transparent and unintentionally p-type doped, with hole concentrations and mobilities in the range of 0.9 to 6.0x10$^{18}$cm$^{-3}$ and 2.0 to 5.5 cm$^2$/V.s, respectively. These p-type SnO films obtained at low temperatures are promising for back-end-of-line (BEOL) compatible applications and for integration with n-type oxides in p-n heterojunction and field-effect transistors, Comment: 18 pages, 10 figures

Published
2022
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17. Resource use and costs of transitioning from pediatric to adult care for patients with chronic kidney disease

Author

Choukair, Daniela, Rieger, Susanne, Bethe, Dirk, Treiber, Dorothea, Hoffmann, Georg F., Grasemann, Corinna, and Burgard, Peter

Abstract

Author(s): Daniela Choukair [sup.1] [sup.2] , Susanne Rieger [sup.1] , Dirk Bethe [sup.1] , Dorothea Treiber [sup.1] , Georg F. Hoffmann [sup.1] [sup.2] , Corinna Grasemann [sup.3] , Peter Burgard [...], Background The structured transition of adolescents and young adults with chronic kidney disease (CKD) from pediatric to adult care is important, but data on the time and resources required for the necessary components of the transition process and the associated costs are lacking. Methods In a prospective single-center cohort study of 52 patients with pre-transplant CKD (CKD stage 1, n = 10; stage 2, n = 6; stage 3, n = 5; stage 4 and 5, 1 patient each) or kidney transplant recipients (KTR), resource use and costs were evaluated for the key elements of a structured transition pathway, including (i) assessment of patients&apos; disease-related knowledge and needs, (ii) required education and counseling sessions, and (iii) compiling an epicrisis and a transfer appointment of the patient with the current pediatric and the future adult nephrologist. Results Forty-four of 52 enrolled patients (84.6%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process until the final transfer consultation was 514 ± 204 days. The process was significantly longer for KTR (624 ± 150 [range, 307-819] days) than for patients with pre-transplant CKD (365 ± 172 [range, 1-693] days; P < 0.0001). The cumulative costs of all counseling and education sessions performed including the transfer appointment were 763 ± 473 Euro; it was significantly higher in KTR (966 ± 457 Euro) than in patients with pre-transplant CKD (470 ± 320 Euro; P < 0.0001). Conclusions A structured transition pathway for patients with CKD is resource and time-consuming due to the complexity of the disease and should be sufficiently funded. Graphical Abstract

Published
2024
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18. Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

Author

Baum, Petra, Baumgartner, Manuela, Bertsche, Astrid, Blankenburg, Markus, Denecke, Jonas, Deschauer, Marcus, Eckenweiler, Matthias, Geis, Tobias, Goldhahn, Klaus, Groß, Martin, Günther, René, Hagenacker, Tim, Hamelmann, Eckard, Husain, Ralf A., Kamm, Christoph, Kauffmann, Birgit, Koch, Jan Christoph, Löscher, Wolfgang, Ludolph, Albert, Martin, Pascal, Mensch, Alexander, Meyer zu Hörste, Gerd, Neuwirth, Christoph, Petri, Susanne, Pühringer, Manuel, Rathmann, Imke, Schäfer, Dorothee, Schimmel, Mareike, Schrank, Bertold, Schreiber-Katz, Olivia, Schwerin-Nagel, Anette, Smitka, Martin, Steinbach, Meike, Steiner, Elisabeth, Stoffels, Johannes, Theophil, Manuela, Topakian, Raffi, Türk, Matthias, Vorgerd, Matthias, Walter, Maggie C., Weiler, Markus, Wiegand, Gert, Wunderlich, Gilbert, Wurster, Claudia Diana, Zeller, Daniel, Metelmann, Moritz, Zeiner, Fiona, Pilshofer, Veronika, Rappold, Mika, Pauschek, Josefine, Reihle, Christof, Homma, Annette Karolin, Lingor, Paul, Henzi, Bettina, Reinhardt, Tabea, Holzwarth, Dorothea, Wittmann, Wolfgang, Kappel, Stefan, Freigang, Maren, Stolte, Benjamin, Martakis, Kyriakos, Classen, Georg, Roland-Schäfer, Doris, Steuernagel, Daniela, Hartmann, Hans, Fischer, Sophie, Wermuth, Marieke, Muhandes, Mohamad Tareq, Hotter, Anna, Uzelac, Zeljko, Naegel, Steffen, Wiethoff, Sarah, Braun, Nathalie, Bjelica, Bogdan, Kölbel, Heike, Angelova-Toshkina, Daniela, Wilken, Bernd, Osmanovic, Alma, Fiedler, Barbara, Plecko, Barbara, Tomforde, Maike, Voelkl, Thomas, von Moers, Arpad, Müller, Petra, Behring, Bettina, Güttsches, Anne, Reilich, Peter, Wick, Wolfgang, Stoltenburg, Corinna, Witzel, Simon, Bellut, Julia, Hoffmann, Georg Friedrich, Mörtlbauer, Kathrin, Ille, Alexandra, Schroth, Michael, Driemeyer, Joenna, Semmler, Luisa, Müller, Cornelia, Dörnbrack, Katharina, Zemlin, Michael, Geitmann, Stephanie, Lapp, Hanna Sophie, Brakemeier, Svenja, Gehrke, Tascha, Ntemiris, Klearchos, Kaiser, Nadja, Borowski, Sabine, Ramadan, Barbara, Hustedt, Ulf, Baum, Tobias, Schneider, Ilka, Akova-Oztürk, Esra, Vill, Katharina, Dibrani, Zylfie, Wohnrade, Camilla, Della-Marina, Adela, Jung, Lisa, Deba, Timo, Zobel, Joachim, Schallner, Jens, Kraut, Christina, Vollmann, Peter, Schüssler, Stephanie, Roeder, Melanie, Hiebeler, Miriam, Berberich, Nicole, Schneider, Joanna, Brauner, Brigitte, Kölker, Stefan, Pernegger, Elke, Gosk-Tomek, Magdalena, Braun, Sarah, Weiss, Deike, Machetanz, Gerrit, Langer, Thorsten, Saier, Christina, Baumann, Sandra, Hettrich, Sabine, Dworschak, Gabriel, Müller-Kaempffer, Katharina, Dittes, Isabelle, Thimm, Andreas, Quinten, Lisa, Albers, Kristina, Bevot, Andrea, Bretschneider, Christa, Dorst, Johannes, Kendzierski, Thomas, Hannibal, Iris, Bischofberger, Jasmin, Riesmeier, Tilman, Gangfuß, Andrea, Johann to Settel, Eva, Grässl, Michael, Fiebig, Susan, Hollerauer, Carmen, Seeber, Lea, Krahwinkler, Ina, Lange, Irene, Montagnese, Federica, Mann-Richter, Marcel, Wagner, Alexandra, Leypold, Christine, Saffari, Afshin, Anna, Elmecker, Wiesenhofer, Anna, Wendel, Eva-Maria, Steffens, Paula-Sophie, Wider, Sabine, Tassoni, Adrian, Dall, Andrea, Busch, Franziska, Zeisler, Daniela, Wessel, Maria, Lipka, Jaqueline, Hackemer, Andrea, Plugge, Loreen, Jansen, Eva, Roth, Erdmute, Schuster, Joachim, Koelsch, Anna, Warken-Madelung, Birgit, Schwippert, Michaela, Holtkamp, Britta, Köbbing, Katja, Claeys, Sander, Foerster, Sandy, Thiele, Simone, Rochau-Trumpp, Heidi, George, Annette, Niesert, Moritz, Neimair, Tanja, Vettori, Katia, Haverkamp, Julia, Taherpour, Jila, Hug, Juliane, Wenzel, Franziska, Bant, Christina, Baur, Ute, Bühner, Kathrin, Schlag, Melina, Ruß, Lena, Küpper, Hanna, Müller, Anja, Wollinsky, Kurt, Well, Therese, Leinert, Antonia, Andres, Barbara, Omran, Heymut, Claus, Nicole, Hagenmeyer, Anna, Schnurr, Marion, Dukic, Vladimir, Ludolph, Albert Christian, Specht, Sabine, Angermair, Verena, Hüpper, Anna, Banholzer, Daniela, Stein, Sabine, Kampowski, Tim, Richmann, Marion, Nicolai, Sylke, Atta, Omar, Meßmer, Birgit, de Vries, Heike, Rotenfusser, Elisabeth, Oscmanovic, Alma, Renger, Isabelle, Guillemot, Hélène, Lehnert, Ilka, Grünwedel, Mike, Grimm, Laura, Stocker, Guido, Kaindl, Angela M., Hoevel, Annegret, Stadler, Theresa, Fischer, Michal, Vogt, Sibylle, Gebert, Axel, Goldbach, Susanne, Kirschner, Janbernd, Lochmüller, Hanns, Müller-Felber, Wolfgang, Pechmann, Astrid, Schara-Schmidt, Ulrike, Probst-Schendzielorz, Kristina, Lang, Annina, Nitzsche, Maren, Hammer, Julie, Müller-Kaempfer, Katharina, Wirner-Piotrowski, Corinna, van der Stam, Lieske, Bongartz, Anke, Enzmann, Cornelia, Fluss, Joël, Galiart, Elea, Jacquier, David, Metzler, Dominique Baumann, Tscherter, Anne, Weiß, Claudia, Becker, Lena-Luise, Friese, Johannes, Blaschek, Astrid, Hahn, Andreas, Illsinger, Sabine, Schwartz, Oliver, Bernert, Günther, Hagen, Maja von der, Flotats-Bastardas, Marina, Schreiber, Gudrun, Schara, Ulrike, Trollmann, Regina, Horber, Veronka, Wilichowski, Ekkehard, Baumann, Matthias, Klein, Andrea, Eisenkölbl, Astrid, Köhler, Cornelia, Stettner, Georg M., Cirak, Sebahattin, Hasselmann, Oswald, Garbade, Sven F., Johannsen, Jessika, and Ziegler, Andreas

Published
2024
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19. Association between substituting macronutrients and all-cause mortality: a network meta-analysis of prospective observational studies

Author

Wallerer, Sabina, Papakonstantinou, Theodoros, Morze, Jakub, Stadelmaier, Julia, Kiesswetter, Eva, Gorenflo, Lea, Barbaresko, Janett, Szczerba, Edyta, Neuenschwander, Manuela, Bell, William, Kühn, Tilman, Lohner, Szimonetta, Guasch-Ferré, Marta, Hoffmann, Georg, Meerpohl, Joerg J., Schlesinger, Sabrina, Nikolakopoulou, Adriani, and Schwingshackl, Lukas

Published
2024
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20. Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders

Author

Schulze, Andreas, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2nd, Wong, Derek, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Seminara, Jennifer, Konczal, Laura, Lawrence Merritt, J., 2nd, Burrage, Lindsay C., Breilyn, Margo, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Zielonka, Matthias, Kölker, Stefan, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Druck, Ann-Catrin, Ramdhouni, Nesrine, Göde, Laura, Hoffmann, Georg F., and Posset, Roland

Published
2024
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23. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

Author

Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
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25. Using Fuzzy Cluster Analysis to Find Interesting Clusters

Author

Klawonn, Frank, Hoffmann, Georg, Kacprzyk, Janusz, Series Editor, Pal, Nikhil R., Advisory Editor, Bello Perez, Rafael, Advisory Editor, Corchado, Emilio S., Advisory Editor, Hagras, Hani, Advisory Editor, Kóczy, László T., Advisory Editor, Kreinovich, Vladik, Advisory Editor, Lin, Chin-Teng, Advisory Editor, Lu, Jie, Advisory Editor, Melin, Patricia, Advisory Editor, Nedjah, Nadia, Advisory Editor, Nguyen, Ngoc Thanh, Advisory Editor, Wang, Jun, Advisory Editor, García-Escudero, Luis A., editor, Gordaliza, Alfonso, editor, Mayo, Agustín, editor, Lubiano Gomez, María Asunción, editor, Gil, Maria Angeles, editor, Grzegorzewski, Przemyslaw, editor, and Hryniewicz, Olgierd, editor

Published
2023
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27. Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease

Author

Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., and Staufner, Christian

Published
2024
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28. Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders

Author

Schulze, Andreas, García-Cazorla, Angeles, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2<ce:sup loc='post">nd</ce:sup>, Le Mons, Cynthia, Wong, Derek, Dobbelaere, Dries, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Lawrence Merritt, J., 2<ce:sup loc='post">nd</ce:sup>, Seminara, Jennifer, Konczal, Laura, Burrage, Lindsay C., Breilyn, Margo, Lindner, Martin, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Posset, Roland, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Epp, Friederike, Ramdhouni, Nesrine, Druck, Ann-Catrin, Hoffmann, Georg F., Kölker, Stefan, and Zielonka, Matthias

Published
2024
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31. Transition for adolescents with a rare disease: results of a nationwide German project

Author

Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M., Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J., Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C., Grüters, Annette, Hoffmann, Georg F., and Choukair, Daniela

Published
2023
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32. Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Author

Speckmann, Carsten, Nennstiel, Uta, Hönig, Manfred, Albert, Michael H., Ghosh, Sujal, Schuetz, Catharina, Brockow, Inken, Hörster, Friederike, Niehues, Tim, Ehl, Stephan, Wahn, Volker, Borte, Stephan, Lehmberg, Kai, Baumann, Ulrich, Beier, Rita, Krüger, Renate, Bakhtiar, Shahrzad, Kuehl, Joern-Sven, Klemann, Christian, Kontny, Udo, Holzer, Ursula, Meinhardt, Andrea, Morbach, Henner, Naumann-Bartsch, Nora, Rothoeft, Tobias, Kreins, Alexandra Y., Davies, E. Graham, Schneider, Dominik T., Bernuth, Horst v., Klingebiel, Thomas, Hoffmann, Georg F., Schulz, Ansgar, and Hauck, Fabian

Published
2023
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33. aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

Author

Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, and Brennenstuhl, Heiko

Published
2023
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38. Long COVID symptoms in exposed and infected children, adolescents and their parents one year after SARS-CoV-2 infection: A prospective observational cohort study

Author

Haddad, Anneke, Janda, Aleš, Renk, Hanna, Stich, Maximilian, Frieh, Pauline, Kaier, Klaus, Lohrmann, Florens, Nieters, Alexandra, Willems, Anna, Huzly, Daniela, Dulovic, Alex, Schneiderhan-Marra, Nicole, Jacobsen, Eva-Maria, Fabricius, Dorit, Zernickel, Maria, Stamminger, Thomas, Bode, Sebastian F.N., Himpel, Theda, Remppis, Jonathan, Engel, Corinna, Peter, Andreas, Ganzenmueller, Tina, Hoffmann, Georg Friedrich, Haase, Bettina, Kräusslich, Hans-Georg, Müller, Barbara, Franz, Axel R., Debatin, Klaus-Michael, Tönshoff, Burkhard, Henneke, Philipp, and Elling, Roland

Published
2022
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41. β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity

Author

Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Maurer, Dirk, Monavari, Ardeshir A., Gummesson, Anders, Reims, Annika, Cayuela, Jorge A., Kuklina, Natalia, Benoist, Jean-François, Perrin, Laurence, Assmann, Birgit, Hoffmann, Georg F., Bierau, Jörgen, Kaindl, Angela M., and van Kuilenburg, André B.P.

Published
2022
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42. The calcium-sensing receptor stabilizes podocyte function in proteinuric humans and mice

Author

Mühlig, Anne K., Steingröver, Johanna, Heidelbach, Hannah S., Wingerath, Madelaine, Sachs, Wiebke, Hermans-Borgmeyer, Irm, Meyer-Schwesinger, Catherine, Choi, Hoon Young, Lim, Beom Jin, Patry, Christian, Hoffmann, Georg Friedrich, Endlich, Nicole, Bracke, Katharina, Weiß, Mariella, Guse, Andreas H., Lassé, Moritz, Rinschen, Markus M., Braun, Fabian, Huber, Tobias B., Puelles, Victor G., Schmitt, Claus Peter, and Oh, Jun

Published
2022
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46. Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

Author

Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, and Syrbe, Steffen

Published
2022
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47. Robust and durable serological response following pediatric SARS-CoV-2 infection

Author

Renk, Hanna, Dulovic, Alex, Seidel, Alina, Becker, Matthias, Fabricius, Dorit, Zernickel, Maria, Junker, Daniel, Groß, Rüdiger, Müller, Janis, Hilger, Alexander, Bode, Sebastian F. N., Fritsch, Linus, Frieh, Pauline, Haddad, Anneke, Görne, Tessa, Remppis, Jonathan, Ganzemueller, Tina, Dietz, Andrea, Huzly, Daniela, Hengel, Hartmut, Kaier, Klaus, Weber, Susanne, Jacobsen, Eva-Maria, Kaiser, Philipp D., Traenkle, Bjoern, Rothbauer, Ulrich, Stich, Maximilian, Tönshoff, Burkhard, Hoffmann, Georg F., Müller, Barbara, Ludwig, Carolin, Jahrsdörfer, Bernd, Schrezenmeier, Hubert, Peter, Andreas, Hörber, Sebastian, Iftner, Thomas, Münch, Jan, Stamminger, Thomas, Groß, Hans-Jürgen, Wolkewitz, Martin, Engel, Corinna, Liu, Weimin, Rizzi, Marta, Hahn, Beatrice H., Henneke, Philipp, Franz, Axel R., Debatin, Klaus-Michael, Schneiderhan-Marra, Nicole, Janda, Ales, and Elling, Roland

Published
2022
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49. Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases.

Author

Küper, Katharina, Poschet, Gernot, Rossmann, Julia, Garbade, Sven F., Spiegelhalter, Alexander, Wen, Dan, Hoffmann, Georg F., Schmitt, Claus P., Opladen, Thomas, and Peters, Verena

Subjects
CENTRAL nervous system, AMINO acids, NEUROLOGICAL disorders, PEOPLE with epilepsy, DIPEPTIDES
Abstract

Dipeptides (DPs), composed of two amino acids (AAs), hold significant therapeutic potential but remain underexplored. Given the crucial role of AAs in central nervous system (CNS) function, this study investigated the presence of DPs in cerebrospinal fluid (CSF) and their correlation with corresponding AAs, potentially indicating their role as AA donors. Plasma and CSF samples were collected from 43 children with neurological or metabolic conditions of unknown origin, including 23 with epilepsy. A panel of 33 DPs was quantified using UPLC-MS/MS. Out of 33 DPs, 18 were detectable in CSF and 20 in plasma, displaying high inter-individual variance. Gly-Asp, Gly-Pro, and Ala-Glu were consistently found in all CSF samples, while only Gly-Asp was universally detectable in plasma. Anserine and carnosine were prominent in CSF and plasma, respectively, with no other histidine-containing DPs observed. Generally, DP concentrations were higher in plasma than in CSF; however, anserine and Gly-Pro had similar concentrations in both fluids. Significant correlations were observed between specific DPs and their corresponding AAs in CSF (Gly-Glu, Gly-Pro and Ser-Gln) and plasma (Glu-Glu and Glu-Ser). Notably, patients with epilepsy had elevated medium anserine concentrations in CSF. This study is the first to demonstrate the presence of numerous DPs in CSF and plasma. Further research is needed to determine if DP patterns can support the diagnosis of neurological diseases and whether DP administration can modulate amino acid availability in the brain, potentially offering new therapeutic options, such as for defects in the amino acid transporter. [ABSTRACT FROM AUTHOR]

Published
2024
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50. Elevated Soluble ACE2 Activity in Children and Adults After SARS‐CoV‐2 Exposure Irrespective of Laboratory‐Confirmed Infection.

Author

Stich, Maximilian, Magalhães, Vladimir Gonçalves, Bürger, Friederike, Garbade, Sven F., Jeltsch, Kathrin, Mohr, Kerstin, Haddad, Anneke, Elling, Roland, Lang, Peter, Rabsteyn, Armin, Jacobsen, Eva‐Maria, Bode, Sebastian F. N., Müller, Barbara, Kräusslich, Hans‐Georg, Hoffmann, Georg Friedrich, Okun, Jürgen G., Bartenschlager, Ralf, Binder, Marco, Janda, Aleš, and Renk, Hanna

Subjects
ABANDONED children, CELL receptors, ANGIOTENSIN converting enzyme, COHORT analysis, LONGITUDINAL method
Abstract

The pivotal role of the cell entry receptor ACE2 for SARS‐CoV‐2 infection is well‐established. When ACE2 is shed from cell surface into plasma as soluble ACE2 (sACE2), it can effectively neutralize SARS‐CoV‐2. This longitudinal prospective cohort study analyzed sACE2 activity in 1192 participants, aged 4 months to 81 years, 3 and 12 months after SARS‐CoV‐2 household exposure. Following SARS‐CoV‐2 exposure, participants exhibited significantly elevated sACE2 activity, irrespective of confirmed infection, with the highest levels observed in exposed children. Longitudinal analysis revealed a decline in sACE2 levels over time, reaching levels comparable to age‐ and sex‐matched pre‐pandemic controls. An increase in sACE2 activity was also confirmed in vitro in Calu‐3 (human lung) cells within hours of SARS‐CoV‐2 exposure, providing a direct link between SARS‐CoV‐2 exposure and elevated sACE2. This study, therefore, challenges the dichotomy of categorizing SARS‐CoV‐2 exposed participants as infected or not infected solely on currently established diagnostic assays. It demonstrates lasting host responses independent of B‐ and T‐cell memory and may help to keep SARS‐CoV‐2 infections in balance and contribute to successful virus clearance in children and adults lacking humoral and cellular immune responses following SARS‐CoV‐2 exposure. Trial Registration: German Registry for Clinical Studies; Identifier: D 00021521. [ABSTRACT FROM AUTHOR]

Published
2024
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