Signe Mosegaard

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 146 citations · Full text

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 et al. · Molecular Genetics and Metabolism · 2017 · 56 citations

Exon Skipping, Genetic Disorder, Natural Sciences +10

Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy

Mari Auranen, Anders Paetau, Päivi Piirilä et al. · Neuromuscular Disorders · 2017 · 34 citations · Full text

Riboflavin Therapy, Translational Medicine, Flad1 Mutations Benefits +7

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · 2021 · 33 citations · Full text