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

Autor: 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, Matias Wagner

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 comprehensiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

Autor: Malte Spielmann, Stéphane Bézieau, Elisabeth Mangold, Markus M. Nöthen, Peter Krawitz, Hartmut Engels, Nicole Fleischer, Matias Wagner, Axel Schmidt, Tobias B. Haack, Shahida Moosa, Alexej Knaus, Tzung-Chien Hsieh, Aviram Bar-Haim, Sugirthan Sivalingam, Martin-Atta Mensah, Stefan Mundlos, Nadja Ehmke, Karen W. Gripp, Denise Horn, Elke Krüger, Sébastien Küry, Theresa Brunet, Frédéric Ebstein, Christian P. Schaaf, Kathrin Grundmann-Hauser, Regina C. Betz, Martina Kreiß, Tom Kamphans, Claudia Perne, Sophia Peters, Magdalena Danyel, Heidi Beate Bentzen, Alexander Schmid, Guilherme Bonini, Kirsten Cremer, Jean Tori Pantel

A large fraction of monogenic disorders causes craniofacial abnormalities with characteristic facial morphology. These disorders can be diagnosed more efficiently with the support of computer-aided next-generation phenotyping tools, such as DeepGesta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1dc39a56fb227677101df26697957581
https://doi.org/10.21203/rs.3.rs-138785/v1

A machine learning-based screening tool for genetic syndromes in children

Autor: Martin Atta Mensah, Claus-Eric Ott, Denise Horn, Jean Tori Pantel

Publikováno v: The Lancet Digital Health. 4:e295

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d56d089f6b6ed7ac53b21e0525125087
https://doi.org/10.1016/s2589-7500(22)00050-4

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Autor: Jean Tori, Pantel, Nurulhuda, Hajjir, Magdalena, Danyel, Jonas, Elsner, Angela Teresa, Abad-Perez, Peter, Hansen, Stefan, Mundlos, Malte, Spielmann, Denise, Horn, Claus-Eric, Ott, Martin Atta, Mensah

Publikováno v: Journal of Medical Internet Research (JMIR)
Journal of Medical Internet Research, Vol 22, Iss 10, p e19263 (2020)
Journal of Medical Internet Research

BackgroundCollectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53c2accbb6d2749e2d029a9758fd2fd