Publications by authors named "Signe Mosegaard"

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Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.
Adriana S Passadouro, Berith M Balfoort, Mirjam Langeveld, Clara D M van Karnebeek, Jolanda van der Velden, Signe Mosegaard

EMBO Mol Med· November 2025

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Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue.
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Signe Mosegaard

EMBO Mol Med· November 2025

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Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS.
Signe Mosegaard, Krishna S Twayana, Simone W Denis, Jeffrey Kroon, Bauke V Schomakers

FASEB Bioadv· September 2024

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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Marit Schwantje, Signe Mosegaard, Suzan J G Knottnerus, Jan Bert van Klinken, Ronald J Wanders

FASEB J· February 2024

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Signe Mosegaard

Genome Med· April 2022

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Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
Sarah Fogh, Graziana Dipace, Anne Bie, Maria Veiga-da-Cunha, Jakob Hansen, Signe Mosegaard

J Inherit Metab Dis· September 2021

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Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Signe Mosegaard, Graziana Dipace, Peter Bross, Jasper Carlsen, Niels Gregersen

Int J Mol Sci· May 2020

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FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard

Mol Genet Genomic Med· September 2019

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Challenging transitions.
Niluka D Wasalathanthri, Syed Shan-E-Ali Zaidi, Elena Mahrt, Sudhakar Srivastava, Kun-Hsing Yu, Signe Mosegaard

Science· January 2019

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FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Judit García-Villoria, Begoña De Azua, Frederic Tort, Signe Mosegaard, Olatz Ugarteburu

Clin Genet· December 2018

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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Signe Mosegaard, Gitte Hoffmann Bruun, Karen Freund Flyvbjerg, Yngve Thomas Bliksrud, Niels Gregersen

Mol Genet Metab· December 2017

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Rikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, Signe Mosegaard, Veronika Boczonadi

Am J Hum Genet· June 2016

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