Skip to main content
Go to the home page of the European Commission (opens in new window)
English English
CORDIS - EU research results
CORDIS

Reconstruction and Computational Modelling for Inherited Metabolic Diseases

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

Publications

EnzChemRED, a rich enzyme chemistry relation extraction dataset (opens in new window)

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

Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases (opens in new window)

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

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits (opens in new window)

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

Integrative omics approaches to advance rare disease diagnostics (opens in new window)

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

Integration of proteomic data with genome‐scale metabolic models: A methodological overview (opens in new window)

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

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration (opens in new window)

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

Dynamic whole-body models for infant metabolism (opens in new window)

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

fluxTrAM: Integration of tracer-based metabolomics data into atomically resolved genome-scale metabolic networks for metabolic flux analysis (opens in new window)

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

Searching for OpenAIRE data...

There was an error trying to search data from OpenAIRE

No results available

My booklet 0 0