Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Fabian Brand, Luisa Averdunk et al.|Nature Genetics|2024Cited by 49
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic diseaseSarah C. Grünert, Jörn Oliver Sass, William R. Foster et al.|Biochimie|2021Cited by 18
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Bender Tim, Magdalena Danyel et al.|medRxiv|2023Cited by 15
The clinical spectrum and molecular heterogeneity of Succinyl- CoA:3-oxoacid coenzyme A transferase (SCOT) deficiencySarah C. Grünert, Jörn Oliver Sass, William R. Foster et al.|Publication Server of Bonn-Rhein-Sieg University of Applied Sciences (Bonn-Rhein-Sieg University of Applied Sciences)|2021Cited by 0
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Fabian Brand, Magdalena Danyel et al.|Nature Genetics|2025Cited by 0