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1. 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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4. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Author

Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., and Krawitz, Peter M.

Published
2022
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6. Autorinnen und Autoren

Author

Angelow, Aniela, primary, Baum, Erika, additional, Becker, Annette, additional, Bender, Tim Th. A., additional, Bergmann, Antje, additional, Bernau, Ruben, additional, Bleckwenn, Markus, additional, Blozik, Eva, additional, Bösner, Stefan, additional, Brandt, Bettina, additional, Deecke, Ruth, additional, Detmer, Julian, additional, Donner-Banzhoff, Norbert, additional, Ehrhardt, Maren, additional, Eisele, Marion, additional, Feldmeier, Gregor, additional, Flägel, Kristina, additional, Frank, Luca, additional, Freitag, Michael H., additional, Freyer-Adam, Jennis, additional, Fuchs, Stephan, additional, Gágyor, Ildikó, additional, Haasenritter, Jörg, additional, Hein, Holger, additional, Heintze, Christoph, additional, Heinz, Leonor, additional, Herrmann, Markus, additional, Heydecke, Guido, additional, Holzinger, Felix, additional, Joos, Stefanie, additional, Kaduszkiewicz, Hanna, additional, Kalitzkus, Vera, additional, Kampmann, Ralf, additional, Kiel, Simone, additional, Kötter, Thomas, additional, Krüger, Karen, additional, Krüger, Katarina, additional, Kühlein, Thomas, additional, Laske, Alexander, additional, Ludwig, Fabian, additional, Lühmann, Dagmar, additional, Machnik, Rebecca, additional, Mader, Frederik M., additional, Mathias, Leonard, additional, Mews, Claudia, additional, Mortsiefer, Achim, additional, Muche-Borowski, Cathleen, additional, Mücke, Martin, additional, Müller, Beate S., additional, Oltrogge-Abiry, Jan Hendrik, additional, Porzelt, Sarah, additional, Prautzsch, Horst, additional, Preuß, Rebekka, additional, Pruskil, Susanne, additional, Puschmann, Egina, additional, Raus, Christina, additional, Reddemann, Olaf, additional, Reusch, Freya Sophia, additional, Roos, Marco, additional, Runge, Kristin, additional, Ruppel, Thomas, additional, Schmalstieg-Bahr, Katharina, additional, Schmidt, Konrad, additional, Schneider, Nils, additional, Schneider-Rathert, Wolfgang, additional, Schübel, Jeannine, additional, Schwill, Simon, additional, Sierocinski, Elizabeth, additional, Sikorski, Alexander, additional, Spanke, Johannes, additional, Steinhäuser, Jost, additional, Strauß, Annette, additional, Thiesemann, Rüdiger, additional, Thonack, Jens, additional, Truthmann, Julia, additional, Uebel, Til, additional, Valentini, Jan, additional, Bussche, Hendrik van den, additional, Veit, Iris, additional, Voigt, Karen, additional, Wagner, Hans-Otto, additional, Wagner, Viola, additional, Werkmeister, Caroline, additional, Wilm, Stefan, additional, Wolfram, Christian, additional, Zimmermann, Thomas, additional, and Zutz, Stefan, additional

Published
2022
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8. Toward digital design at the exascale: An overview of project ICECap.

Author

Peterson, J. Luc, Bender, Tim, Blake, Robert, Chiang, Nai-Yuan, Fernández-Godino, M. Giselle, Garcia, Bryan, Gillette, Andrew, Gunnarson, Brian, Hansen, Cooper, Hill, Judy, Humbird, Kelli, Kustowski, Bogdan, Kim, Irene, Koning, Joe, Kur, Eugene, Langer, Steve, Lee, Ryan, Lewis, Katie, Maguire, Alister, and Milovich, Jose

Subjects
*ICE caps, *INERTIAL confinement fusion, *HIGH performance computing, *SYSTEMS design, *ENGINEERING systems, *GRAPHICS processing units
Abstract

High performance computing has entered the Exascale Age. Capable of performing over 1018 floating point operations per second, exascale computers, such as El Capitan, the National Nuclear Security Administration's first, have the potential to revolutionize the detailed in-depth study of highly complex science and engineering systems. However, in addition to these kind of whole machine "hero" simulations, exascale systems could also enable new paradigms in digital design by making petascale hero runs routine. Currently, untenable problems in complex system design, optimization, model exploration, and scientific discovery could all become possible. Motivated by the challenge of uncovering the next generation of robust high-yield inertial confinement fusion (ICF) designs, project ICECap (Inertial Confinement on El Capitan) attempts to integrate multiple advances in machine learning (ML), scientific workflows, high performance computing, GPU-acceleration, and numerical optimization to prototype such a future. Built on a general framework, ICECap is exploring how these technologies could broadly accelerate scientific discovery on El Capitan. In addition to our requirements, system-level design, and challenges, we describe some of the key technologies in ICECap, including ML replacements for multiphysics packages, tools for human-machine teaming, and algorithms for multifidelity design optimization under uncertainty. As a test of our prototype pre-El Capitan system, we advance the state-of-the art for ICF hohlraum design by demonstrating the optimization of a 17-parameter National Ignition Facility experiment and show that our ML-assisted workflow makes design choices that are consistent with physics intuition, but in an automated, efficient, and mathematically rigorous fashion. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Adressen

Author

Bender, Tim Theodor Albert, primary, Bernsen, Sarah, additional, Biehl, Lisa, additional, Bredow, Laura, additional, Conrad,, Rupert, additional, Froschauer, Sonja, additional, Bondio, Mariacarla Gadebusch, additional, Göbel, Jens, additional, Grigull,, Lorenz, additional, Hauke, Elke, additional, Heider, Nicole, additional, Heuchemer, Leonie, additional, Kadioglu, Dennis, additional, Kirch, Kurt, additional, Krawitz, Peter, additional, Lehmann, Emilia, additional, Mann, Mirjam, additional, Marinova, Milka, additional, Mücke, Martin, additional, Naumann-Winter, Frauke, additional, Nöthen, Markus M., additional, Pantel, Jean Tori, additional, Schaaf, Jannik, additional, Schäfer, Johanna, additional, Schmidt, Axel, additional, Sellin, Julia, additional, Storf, Holger, additional, Weber, Stefanie, additional, Weydt, Patrick, additional, and Wolf, Thorsten, additional

Published
2021
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14. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Author

Schmidt, Axel, primary, Danyel, Magdalena, additional, Grundmann, Kathrin, additional, Brunet, Theresa, additional, Klinkhammer, Hannah, additional, Hsieh, Tzung-Chien, additional, Engels, Hartmut, additional, Peters, Sophia, additional, Knaus, Alexej, additional, Moosa, Shahida, additional, Averdunk, Luisa, additional, Boschann, Felix, additional, Sczakiel, Henrike, additional, Schwartzmann, Sarina, additional, Mensah, Martin Atta, additional, Pantel, Jean Tori, additional, Holtgrewe, Manuel, additional, Boesch, Annemarie, additional, Weiss, Claudia, additional, Weinhold, Natalie, additional, Suter, Aude-Annick, additional, Stoltenburg, Corinna, additional, Neugebauer, Julia, additional, Kallinich, Tillmann, additional, Kaindl, Angela M., additional, Holzhauer, Susanne, additional, Buehrer, Christoph, additional, Bufler, Philip, additional, Kornak, Uwe, additional, Ott, Claus-Eric, additional, Schuelke, Markus, additional, Nguyen, Hoa Huu Phuc, additional, Hoffjan, Sabine, additional, Grasemann, Corinna, additional, Rothoeft, Tobias, additional, Brinkmann, Folke, additional, Matar, Nora, additional, Sivalingam, Sugirthan, additional, Perne, Claudia, additional, Mangold, Elisabeth, additional, Kreiss, Martina, additional, Cremer, Kirsten, additional, Betz, Regina C., additional, Bender, Tim, additional, Muecke, Martin, additional, Grigull, Lorenz, additional, Klockgether, Thomas, additional, Isabel, Spier, additional, Heimbach, Andre, additional, Tim, Bender, additional, Brand, Fabian, additional, Stieber, Christiane, additional, Morawiec, Alexandra Marzena, additional, Karakostas, Pantelis, additional, Schaefer, Valentin S., additional, Bernsen, Sarah, additional, Weydt, Patrick, additional, Castro-Gomez, Sergio, additional, Aziz, Ahmad, additional, Grobe-Einsler, Marcus, additional, Kimmich, Okka, additional, Kobeleva, Xenia, additional, oender, Demet, additional, Lesmann, Hellen, additional, Kumar, Sheetal, additional, Tacik, Pawel, additional, Lee-Kirsch, Min Ae, additional, Berner, Reinhard, additional, Schuetz, Catharina, additional, Koerholz, Julia, additional, Kretschmer, Tanita, additional, Di Donato, Nataliya, additional, Schroeck, Evelin, additional, Heinen, Andre, additional, Reuner, Ulrike, additional, Hansske, Amalia-Mihaela, additional, Kaiser, Frank J., additional, Manka, Eva, additional, Munteanu, Martin, additional, Kuechler, Alma, additional, Cordula, Kiewert, additional, Hirtz, Raphael, additional, Schlapakow, Elena, additional, Schlein, Christian, additional, Lisfeld, Jasmin, additional, Kubisch, Christian, additional, Herget, Theresia, additional, Hempel, Maja, additional, Weiler-Normann, Christina, additional, Ullrich, Kurt, additional, Schramm, Christoph, additional, Rudolph, Cornelia, additional, Rillig, Franziska, additional, Groffmann, Maximilian, additional, Muntau, Ania, additional, Tibelius, Alexandra, additional, Schwaibold, Eva M. C., additional, Schaaf, Christian P., additional, Zawada, Michal, additional, Kaufmann, Lilian, additional, Hinderhofer, Katrin, additional, Okun, Pamela M., additional, Kotzaeridou, Urania, additional, Hoffmann, Georg F., additional, Choukair, Daniela, additional, Bettendorf, Markus, additional, Spielmann, Malte, additional, Ripke, Annekatrin, additional, Pauly, Martje, additional, Muenchau, Alexander, additional, Lohmann, Katja, additional, Huening, Irina, additional, Hanker, Britta, additional, Baeumer, Tobias, additional, Herzog, Rebecca, additional, Hellenbroich, Yorck, additional, Westphal, Dominik S., additional, Strom, Tim, additional, Kovacs, Reka, additional, Riedhammer, Korbinian M., additional, Mayerhanser, Katharina, additional, Graf, Elisabeth, additional, Brugger, Melanie, additional, Hoefele, Julia, additional, Oexle, Konrad, additional, Mirza-Schreiber, Nazanin, additional, Berutti, Riccardo, additional, Schatz, Ulrich, additional, Krenn, Martin, additional, Makowski, Christine, additional, Weigand, Heike, additional, Schroeder, Sebastian, additional, Rohlfs, Meino, additional, Katharina, Vill, additional, Hauck, Fabian, additional, Borggraefe, Ingo, additional, Mueller-Felber, Wolfgang, additional, Kurth, Ingo, additional, Elbracht, Miriam, additional, Knopp, Cordula, additional, Begemann, Matthias, additional, Kraft, Florian, additional, Lemke, Johannes, additional, Hentschel, Julia, additional, Platzer, Konrad, additional, Strehlow, Vincent, additional, Abou Jamra, Rami, additional, Kehrer, Martin, additional, Demidov, German, additional, Beck-Woedl, Stefanie, additional, Graessner, Holm, additional, Sturm, Marc, additional, Zeltner, Lena, additional, Schoels, Ludger J., additional, Magg, Janine, additional, Bevot, Andrea, additional, Kehrer, Christiane, additional, Kaiser, Nadja, additional, Horn, Denise, additional, Grueters-Kieslich, Annette, additional, Klein, Christoph, additional, Mundlos, Stefan, additional, Noethen, Markus, additional, Riess, Olaf, additional, Meitinger, Thomas, additional, Krude, Heiko, additional, Krawitz, Peter M., additional, Haack, Tobias, additional, Ehmke, Nadja, additional, and Wagner, Matias, additional

Published
2023
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15. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

Author

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, and Matias Wagner

Abstract

Most individuals with rare diseases initially consult their primary care physician. For a subset of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases often require both expert clinical knowledge and comprehensive genetic diagnostics, which poses structural challenges for public healthcare systems. To address these challenges within Germany, a novel structured diagnostic concept, based on multidisciplinary expertise at established university hospital centers for rare diseases (CRDs), was evaluated in the three year prospective study TRANSLATE NAMSE. A key goal of TRANSLATE NAMSE was to assess the clinical value of exome sequencing (ES) in the ultra-rare disease population. The aims of the present study were to perform a systematic investigation of the phenotypic and molecular genetic data of TRANSLATE NAMSE patients who had undergone ES in order to determine the yield of both ultra-rare diagnoses and novel gene-disease associations; and determine whether the complementary use of machine learning and artificial intelligence (AI) tools improved diagnostic effectiveness and efficiency.ES was performed for 1,577 patients (268 adult and 1,309 pediatric). Molecular genetic diagnoses were established in 499 patients (74 adult and 425 pediatric). A total of 370 distinct molecular genetic causes were established. The majority of these concerned known disorders, most of which were ultra-rare. During the diagnostic process, 34 novel and 23 candidate genotype-phenotype associations were delineated, mainly in individuals with neurodevelopmental disorders.To determine the likelihood that ES will lead to a molecular diagnosis in a given patient, based on the respective clinical features only, we developed a statistical framework called YieldPred. The genetic data of a subcohort of 224 individuals that also gave consent to the computer-assisted analysis of their facial images were processed with the AI tool Prioritization of Exome Data by Image Analysis (PEDIA) and showed superior performance in variant prioritization.The present analyses demonstrated that the novel structured diagnostic concept facilitated the identification of ultra-rare genetic disorders and novel gene-disease associations on a national level and that the machine learning and AI tools improved diagnostic effectiveness and efficiency for ultra-rare genetic disorders.

Published
2023
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19. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

Author

Brand, Fabian, primary, Vijayananth, Aswinkumar, additional, Hsieh, Tzung‐Chien, additional, Schmidt, Axel, additional, Peters, Sophia, additional, Mangold, Elisabeth, additional, Cremer, Kirsten, additional, Bender, Tim, additional, Sivalingam, Sugirthan, additional, Hundertmark, Hela, additional, Knaus, Alexej, additional, Engels, Hartmut, additional, Krawitz, Peter M., additional, and Perne, Claudia, additional

Published
2022
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30. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Author

Hsieh, Tzung-Chien, primary, Bar-Haim, Aviram, additional, Moosa, Shahida, additional, Ehmke, Nadja, additional, Gripp, Karen W., additional, Pantel, Jean Tori, additional, Danyel, Magdalena, additional, Mensah, Martin Atta, additional, Horn, Denise, additional, Rosnev, Stanislav, additional, Fleischer, Nicole, additional, Bonini, Guilherme, additional, Hustinx, Alexander, additional, Schmid, Alexander, additional, Knaus, Alexej, additional, Javanmardi, Behnam, additional, Klinkhammer, Hannah, additional, Lesmann, Hellen, additional, Sivalingam, Sugirthan, additional, Kamphans, Tom, additional, Meiswinkel, Wolfgang, additional, Ebstein, Frédéric, additional, Krüger, Elke, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Schmidt, Axel, additional, Peters, Sophia, additional, Engels, Hartmut, additional, Mangold, Elisabeth, additional, Kreiß, Martina, additional, Cremer, Kirsten, additional, Perne, Claudia, additional, Betz, Regina C., additional, Bender, Tim, additional, Grundmann-Hauser, Kathrin, additional, Haack, Tobias B., additional, Wagner, Matias, additional, Brunet, Theresa, additional, Bentzen, Heidi Beate, additional, Averdunk, Luisa, additional, Coetzer, Kimberly Christine, additional, Lyon, Gholson J., additional, Spielmann, Malte, additional, Schaaf, Christian, additional, Mundlos, Stefan, additional, Nöthen, Markus M., additional, and Krawitz, Peter, additional

Published
2021
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34. Autorinnen und Autoren

Author

Angelow, Aniela, Baum, Erika, Becker, Annette, Bender, Tim Th. A., Bergmann, Antje, Bernau, Ruben, Bleckwenn, Markus, Blozik, Eva, Bösner, Stefan, Brandt, Bettina, Deecke, Ruth, Detmer, Julian, Donner-Banzhoff, Norbert, Ehrhardt, Maren, Eisele, Marion, Feldmeier, Gregor, Flägel, Kristina, Frank, Luca, Freitag, Michael H., Freyer-Adam, Jennis, Fuchs, Stephan, Gágyor, Ildikó, Haasenritter, Jörg, Hein, Holger, Heintze, Christoph, Heinz, Leonor, Herrmann, Markus, Heydecke, Guido, Holzinger, Felix, Joos, Stefanie, Kaduszkiewicz, Hanna, Kalitzkus, Vera, Kampmann, Ralf, Kiel, Simone, Kötter, Thomas, Krüger, Karen, Krüger, Katarina, Kühlein, Thomas, Laske, Alexander, Ludwig, Fabian, Lühmann, Dagmar, Machnik, Rebecca, Mader, Frederik M., Mathias, Leonard, Mews, Claudia, Mortsiefer, Achim, Muche-Borowski, Cathleen, Mücke, Martin, Müller, Beate S., Oltrogge-Abiry, Jan Hendrik, Porzelt, Sarah, Prautzsch, Horst, Preuß, Rebekka, Pruskil, Susanne, Puschmann, Egina, Raus, Christina, Reddemann, Olaf, Reusch, Freya Sophia, Roos, Marco, Runge, Kristin, Ruppel, Thomas, Schmalstieg-Bahr, Katharina, Schmidt, Konrad, Schneider, Nils, Schneider-Rathert, Wolfgang, Schübel, Jeannine, Schwill, Simon, Sierocinski, Elizabeth, Sikorski, Alexander, Spanke, Johannes, Steinhäuser, Jost, Strauß, Annette, Thiesemann, Rüdiger, Thonack, Jens, Truthmann, Julia, Uebel, Til, Valentini, Jan, Bussche, Hendrik van den, Veit, Iris, Voigt, Karen, Wagner, Hans-Otto, Wagner, Viola, Werkmeister, Caroline, Wilm, Stefan, Wolfram, Christian, Zimmermann, Thomas, and Zutz, Stefan

Published
2022
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40. Sustainability doesn't have to cost the earth.

Author

Bender, Tim

Subjects
DISHWASHING machines
Abstract

The article describes the sustainability features of the dishwashers being offered by Hobart and the company's flexible interest-free finance plans.

Published
2018

41. Letters to the Editor.

Author

Bender, Tim, Tuck, Dale, and Herrington, Valery

Subjects
LETTERS to the editor, LOANS, LEGISLATIVE bodies, BUILDING permits
Abstract

Several letters to the editor are presented in response to articles in previous issues including "Network's High-Energy Members Lead to Jump in Business Activity" in the January 11, 2010 issue, "SBA Resumes Enhancements to Loan Guarantees" in the December 28, 2009 issue, and a comment regarding the New Jersey Legislature that extends the expiration date of certain building permits.

Published
2010

42. THE INSIDER.

Author

Bender, Tim

Subjects
KITCHEN cleaning, RESTAURANT management, CUSTOMER satisfaction
Abstract

The article shares tips for restaurant owners on the factors for selecting a warewasher, common operator mistakes in restaurants and changing interest of customers in restaurant interest-free payment plan.

Published
2016

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