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

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

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

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://doaj.org/article/81a17fae5b6f4b5ba3a89210ac1293a2

PEDIA: prioritization of exome data by image analysis

Autor: Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi Beate, Biskup, Saskia, Borisov, Oleg, Braaten, Øivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, David Eden, Hilda, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Dukic, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Marín Reina, Purificación, Martinez Carrascal, Antonio, Mitter, Diana, Morlan Herrador, Laura, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Ringmann Fagerberg, Christina, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kuyng, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wisniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

Publikováno v: Hsieh, Tzung-Chien Mensah, Martin A. Pantel, Jean T. Aguilar, Dione Bar, Omri Bayat, Allan Becerra-Solano, Luis Bentzen, Heidi Beate Biskup, Saskia Borisov, Oleg Braaten, Øivind Ciaccio, Claudia Coutelier, Marie Cremer, Kirsten Danyel, Magdalena Daschkey, Svenja David Eden, Hilda Devriendt, Koenraad Wilson, Sandra Douzgou, Sofia Dukic, Dejan Ehmke, Nadja Fauth, Christine Fischer-Zirnsak, Björn Fleischer, Nicole Gabriel, Heinz Graul-Neumann, Luitgard Gripp, Karen W. Gurovich, Yaron Gusina, Asya Haddad, Nechama Hajjir, Nurulhuda Hanani, Yair Hertzberg, Jakob Hoertnagel, Konstanze Howell, Janelle Ivanovski, Ivan Kaindl, Angela Kamphans, Tom Kamphausen, Susanne Karimov, Catherine Kathom, Hadil Keryan, Anna Knaus, Alexej Köhler, Sebastian Kornak, Uwe Lavrov, Alexander Leitheiser, Maximilian Lyon, Gholson J. Mangold, Elisabeth Marín Reina, Purificación Martinez Carrascal, Antonio Mitter, Diana Morlan Herrador, Laura Nadav, Guy Nöthen, Markus Orrico, Alfredo Ott, Claus-Eric Park, Kristen Peterlin, Borut Pölsler, Laura Raas-Rothschild, Annick Randolph, Linda Revencu, Nicole Ringmann Fagerberg, Christina Robinson, Peter Nick Rosnev, Stanislav Rudnik, Sabine Rudolf, Gorazd Schatz, Ulrich Schossig, Anna Schubach, Max Shanoon, Or Sheridan, Eamonn Smirin-Yosef, Pola Spielmann, Malte Suk, Eun-Kuyng Sznajer, Yves Thiel, Christian T. Thiel, Gundula Verloes, Alain Vrecar, Irena Wahl, Dagmar Weber, Ingrid Winter, Korina Wisniewska, Marzena Wollnik, Bernd Yeung, Ming W. Zhao, Max Zhu, Na Zschocke, Johannes Mundlos, Stefan Horn, Denise Krawitz, Peter M. . PEDIA: prioritization of exome data by image analysis. Genetics in Medicine. 2019
Genetics in Medicine

Externí odkaz: http://hdl.handle.net/10852/75783
https://www.duo.uio.no/bitstream/handle/10852/75783/1/PEDIA_prioritization%2Bof%2Bexome%2Bdata%2Bby%2Bimage%2Banalysis.pdf

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