EnzChemRED, a rich enzyme chemistry relation extraction dataset
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Autores:
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
Publicado en:
Scientific Data, Edición 11, 2024, ISSN 2052-4463
Editor:
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
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Autores:
Elaine Zaunseder, Ulrike Mütze, Jürgen G. Okun, Georg F. Hoffmann, Stefan Kölker, Vincent Heuveline, Ines Thiele
Publicado en:
Cell Metabolism, Edición 36, 2024, ISSN 1550-4131
Editor:
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
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Autores:
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
Publicado en:
Nature Genetics, Edición 57, 2025, ISSN 1061-4036
Editor:
Springer Science and Business Media LLC
DOI:
10.1038/s41588-024-01965-7
Integrative omics approaches to advance rare disease diagnostics
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Autores:
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Publicado en:
Journal of Inherited Metabolic Disease, Edición 46, 2023, ISSN 0141-8955
Editor:
Wiley
DOI:
10.1002/jimd.12663
Integration of proteomic data with genome‐scale metabolic models: A methodological overview
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Autores:
Farid Zare, Ronan M. T. Fleming
Publicado en:
Protein Science, Edición 33, 2024, ISSN 0961-8368
Editor:
Wiley
DOI:
10.1002/pro.5150
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
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Autores:
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
Publicado en:
The American Journal of Human Genetics, Edición 112, 2025, ISSN 0002-9297
Editor:
Elsevier BV
DOI:
10.1016/j.ajhg.2024.12.001
