Freyer C

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Bruhn H, Naess K, Ygberg S, ..., Wedell A, Wredenberg A

Hum. Mutat. 2024 (-) 1-16 [2024-03-25; online 2024-03-25]

Clinical Genomics Stockholm [Service]

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Correia SP, Moedas MF, Naess K, ..., Wedell A, Wredenberg A

Hum. Mutat. 42 (4) 378-384 [2021-04-00; online 2021-02-04]

Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters.

Schober FA, Moore D, Atanassov I, ..., Freyer C, Wredenberg A

Sci Adv 7 (8) - [2021-02-00; online 2021-02-19]

Bioinformatics Support for Computational Resources [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]