Project Results
CORDIS provides links to public deliverables and publications of HORIZON projects.
Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .
Deliverables
D9.1 Plan for dissemination and exploitation (opens in new window)
D1.3 Amended U-IMD study protocol and consent forms (opens in new window)
Amended U-IMD study protocol and consent forms
D2.3 Reference database of candidate metabolic biomarkers (opens in new window)D1.2 Report on the patient helpdesk (opens in new window)
Report on the patient helpdesk
Publications
Author(s):
Joohyun Park, Claudia Dufke, Zofia Fleszar, Michael Schlotterbek, Elena Buena-Atienza, Lara G. Stühn, Caspar Gross, Marc Sturm, Stephan Ossowski, Ludger Schöls, Olaf Riess, Tobias B. Haack
Published in:
International Journal of Molecular Sciences, Issue 26, 2025, ISSN 1422-0067
Publisher:
MDPI AG
DOI:
10.3390/IJMS26114969
Author(s):
Ivana Lessel, Anja Baresic, Ivan K. Chinn, Jonathan May, Anu Goenka, Kate E. Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar de la Calle-Martín, Valeria Capra, Paul Cardenas, Céline Chappé, Hey J. Chong, Benjamin Cogne, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George-Abraham, Muge Gucsavas-Calikoglu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay J. Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Elena Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon M. Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menendez, Chantal F. Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew T. Pastore, Yezmin Perilla-Young, Konrad Platzer, Nina Powell-Hamilton, Rachel Rabin, Aisha Rekab, Raissa C. Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie K.G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel
Published in:
The American Journal of Human Genetics, Issue 112, 2025, ISSN 0002-9297
Publisher:
Elsevier BV
DOI:
10.1016/J.AJHG.2024.12.012
Author(s):
Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denommé-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia-Pelaez, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmüller, Estrella López-Martín, Alfons Macaya, Anna Marcé-Grau, Aleš Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Vincenzo Nigro, Catarina Olimpio, Carla Oliveira, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukas Ryba, Karolis Šablauskas, Marco Savarese, Ludger Schöls, Leon Schütz, Verena Steinke-Lange, Giovanni Stevanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris B. A. W. te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcova, Antonio Vitobello, Janet Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldiz, Luca Zalatnai, Birte Zurek, null null, Richarda M. de Voer, Iris B. A. W. te Paske, null null, Elke de Boer, Jean-Madeleine de Sainte Agathe, null null, Liedewei Van de Vondel, null null, Bart van de Warrenburg, null null, Lisenka E. L. M. Vissers, Anthony J. Brookes, Teresinha Evangelista, Christian Gilissen, Holm Graessner, Nicoline Hoogerbrugge, Stephan Ossowski, Olaf Riess, Rebecca Schüle, Matthis Synofzik, Alain Verloes, Leslie Matalonga, Han G. Brunner, Katja Lohmann, Richarda M. de Voer, Ana Töpf, Lisenka E.L.M. Vissers, Sergi Beltran, Alexander Hoischen
Published in:
Nature Medicine, Issue 31, 2025, ISSN 1078-8956
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/S41591-024-03420-W
Author(s):
Po-Ting Lai, Elisabeth Coudert, Lucila Aimo, Kristian Axelsen, Lionel Breuza, Edouard de Castro, Marc Feuermann, Anne Morgat, Lucille Pourcel, Ivo Pedruzzi, Sylvain Poux, Nicole Redaschi, Catherine Rivoire, Anastasia Sveshnikova, Chih-Hsuan Wei, Robert Leaman, Ling Luo, Zhiyong Lu, Alan Bridge
Published in:
Scientific Data, Issue 11, 2024, ISSN 2052-4463
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/s41597-024-03835-7
Author(s):
Elaine Zaunseder, Ulrike Mütze, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Vincent Heuveline, Ines Thiele
Published in:
Cell Metabolism, Issue 36, 2024, ISSN 1550-4131
Publisher:
Elsevier BV
DOI:
10.1016/j.cmet.2024.05.006
Author(s):
Yanjun Liu, Xi Luo, Samira Ranjbar, Johannes M. F. G. Aerts, Martijn van der Lienden, Andrea Dardis, Ronan M. T. Fleming
Published in:
Orphanet Journal of Rare Diseases, Issue 21, 2026, ISSN 1750-1172
Publisher:
Springer Science and Business Media LLC
DOI:
10.1186/S13023-026-04206-8
Author(s):
Martina Messina, Rebecca Ganetzky, Carlos R. Ferreira, Nenad Blau, Shamima Rahman
Published in:
Molecular Genetics and Metabolism, Issue 147, 2026, ISSN 1096-7192
Publisher:
Elsevier BV
DOI:
10.1016/J.YMGME.2025.109704
Author(s):
Nora Scherer, Daniel Fässler, Oleg Borisov, Yurong Cheng, Pascal Schlosser, Matthias Wuttke, Stefan Haug, Yong Li, Fabian Telkämper, Suraj Patil, Heike Meiselbach, Casper Wong, Urs Berger, Peggy Sekula, Anselm Hoppmann, Ulla T. Schultheiss, Sahar Mozaffari, Yannan Xi, Robert Graham, Miriam Schmidts, Michael Köttgen, Peter J. Oefner, Felix Knauf, Kai-Uwe Eckardt, Sarah C. Grünert, Karol Estrada, Ines Thiele, Johannes Hertel, Anna Köttgen
Published in:
Nature Genetics, Issue 57, 2025, ISSN 1061-4036
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/s41588-024-01965-7
Author(s):
Max Louwerse, Kateryna O. Bila, Martijn J. C. van der Lienden, Arnout Jan M. de Beaufort, Rolf G. Boot, Marta Artola, Marco van Eijk, Johannes M. F. G. Aerts
Published in:
International Journal of Molecular Sciences, Issue 26, 2025, ISSN 1422-0067
Publisher:
MDPI AG
DOI:
10.3390/IJMS26062726
Author(s):
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Published in:
Journal of Inherited Metabolic Disease, Issue 46, 2023, ISSN 0141-8955
Publisher:
Wiley
DOI:
10.1002/jimd.12663
Author(s):
Farid Zare, Ronan M. T. Fleming
Published in:
Protein Science, Issue 33, 2024, ISSN 0961-8368
Publisher:
Wiley
DOI:
10.1002/pro.5150
Author(s):
Paulo Gaspar, André R.A. Marques, Maria J. Ferraz, Markus Damme, Gertjan Kramer, Mina Mirzaian, Marion Gijbels, Roelof Ottenhoff, Cindy van Roomen, Herman S. Overkleeft, Michael Schwake, Saskia Heybrock, Maria Carmo Macário, Paul Saftig, Johannes M. Aerts
Published in:
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, Issue 1870, 2025, ISSN 1388-1981
Publisher:
Elsevier BV
DOI:
10.1016/J.BBALIP.2025.159657
Author(s):
Sébastien Moretti, Anne Niknejad, Marco Pagni, Florence Mehl
Published in:
Nucleic Acids Research, Issue 54, 2026, ISSN 0305-1048
Publisher:
Oxford University Press (OUP)
DOI:
10.1093/NAR/GKAF1286
Author(s):
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kevin Uguen, Konrad Platzer, Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler, Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux-Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean-Madeleine de Sainte Agathe, Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hanna Fischer, Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar, Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne-Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris, Julia Hentschel, Bénédicte Héron, Marc-Phillip Hitz, A. Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais, Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost, Sophie Julia, Frank J. Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija, Fabian Kilpert, Cordula Knopp, Florian Kraft, Ilona Krey, Marilyn Lackmy, Fanny Laffargue, Laetitia Lambert, Ryan Lamont, Vincent Laugel, Steven Laurie, Julie L. Lauzon, Louis Lebreton, Marine Lebrun, Marine Legendre, Eric Leguern, Daphné Lehalle, Elodie Lejeune, Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart, Stanislas Lyonnet, Kevin Lüthy, Alan S. Ma, Corinne Mach, Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May, Johannes A. Mayr, Catherine Meridda, Vincent Michaud, Caroline Michot, Gwenael Nadeau, Sophie Naudion, Laetitia Nguyen, Mathilde Nizon, Frédérique Nowak, Sylvie Odent, Valerie Olin, Ikeoluwa A. Osei-Owusu, Matthew Osmond, Katrin Õunap, Laurent Pasquier, Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin, Florence Petit, Christophe Philippe, Marc Planes, Annapurna Poduri, Céline Poirsier, Antoine Pouzet, Bradley Prince, Clément Prouteau, Aurora Pujol, Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway, André Reis, Mathilde Renaud, Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius, Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung, Hana Safraou, Véronique Satre, Pascale Saugier-Veber, Clément Sauvestre, Elise Schaefer, Wanqing Shao, Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin, Caroline Schluth-Bolard, Sarah Schuhmann, Christopher Schröder, Monisha Sebastin, Sabine Sigaudy, Malte Spielmann, Marta Spodenkiewicz, Laura St Clair, Julie Steffann, Radka Stoeva, Harald Surowy, Mark A. Tarnopolsky, Calina Todosi, Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils, Clémence Vanlerberghe, Georgia Vasileiou, Gabriella Vera, André Verdel, Alain Verloes, Yoann Vial, Cédric Vignal, Marie Vincent, Catherine Vince
Published in:
Nature Genetics, Issue 57, 2025, ISSN 1061-4036
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/S41588-025-02184-4
Author(s):
Saleh Alwer, Ronan M. T. Fleming
Published in:
npj Systems Biology and Applications, Issue 12, 2026, ISSN 2056-7189
Publisher:
Springer Science and Business Media LLC
DOI:
10.1038/S41540-026-00692-5
Author(s):
Lucia Laugwitz, Rebecca Buchert, Patricio Olguín, Mehrdad A. Estiar, Mihaela Atanasova, Wilson Marques Jr., Jörg Enssle, Brian Marsden, Javiera Avilés, Andrés González-Gutiérrez, Noemi Candia, Marietta Fabiano, Susanne Morlot, Susana Peralta, Alisa Groh, Carmen Schillinger, Carolin Kuehn, Linda Sofan, Marc Sturm, Benjamin Bender, Pedro J. Tomaselli, Uta Diebold, Amelie J. Mueller, Stephanie Spranger, Maren Fuchs, Fernando Freua, Uirá Souto Melo, Lauren Mattas, Setareh Ashtiani, Oksana Suchowersky, Samuel Groeschel, Guy A. Rouleau, Keren Yosovich, Marina Michelson, Zvi Leibovitz, Muhammad Bilal, Eyyup Uctepe, Ahmet Yesilyurt, Orhan Ozdogan, Tamer Celik, Ingeborg Krägeloh-Mann, Olaf Riess, Hendrik Rosewich, Muhammad Umair, Dorit Lev, Stephan Zuchner, Ulrich Schweizer, David S. Lynch, Ziv Gan-Or, Tobias B. Haack
Published in:
The American Journal of Human Genetics, Issue 112, 2025, ISSN 0002-9297
Publisher:
Elsevier BV
DOI:
10.1016/j.ajhg.2024.12.001
Author(s):
Rebecca Buchert, Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T. Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E. Bonnen, Reza Maroofian, Olaf Riess, Jonasz J. Weber, Melanie Philipp, Tobias B. Haack
Published in:
The American Journal of Human Genetics, Issue 112, 2026, ISSN 0002-9297
Publisher:
Elsevier BV
DOI:
10.1016/J.AJHG.2024.12.019
Author(s):
Xi Luo, Diana C. El Assal, Yanjun Liu, Samira Ranjbar, Ronan M.T. Fleming
Published in:
Frontiers in Computational Neuroscience, Issue 19, 2025, ISSN 1662-5188
Publisher:
Frontiers Media SA
DOI:
10.3389/FNCOM.2025.1594330
Author(s):
Yanjun Liu, Xi Luo, Ronan M. T. Fleming
Published in:
Biomedicines, Issue 13, 2025, ISSN 2227-9059
Publisher:
MDPI AG
DOI:
10.3390/BIOMEDICINES13112799
Author(s):
Aaron Bender, Pablo Ranea‐Robles, Evan G. Williams, Mina Mirzaian, J. Alexander Heimel, Christiaan N. Levelt, Ronald J. Wanders, Johannes M. Aerts, Jun Zhu, Johan Auwerx, Sander M. Houten, Carmen A. Argmann
Published in:
Journal of Inherited Metabolic Disease, Issue 48, 2026, ISSN 0141-8955
Publisher:
Wiley
DOI:
10.1002/JIMD.70045
Author(s):
Elaine Zaunseder, Faiz Khan Mohammad, Ulrike Mütze, Stefan Kölker, Vincent Heuveline, Ines Thiele
Published in:
2024
Publisher:
Cold Spring Harbor Laboratory
DOI:
10.1101/2024.11.25.625291
Author(s):
Luojiao Huang, German Preciat, Jesus Alarcon-Gil, Edinson L. Moreno, Agnieszka Wegrzyn, Ines Thiele, Emma L. Schymanski, Amy Harms, Ronan M.T. Fleming, Thomas Hankemeier
Published in:
2024
Publisher:
Cold Spring Harbor Laboratory
DOI:
10.1101/2024.11.26.625485
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