Wibom R

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]

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ben-Shabat I, Kvarnung M, Sperker W, ..., Engvall M, Paucar M

Neurol Genet 9 (6) e200100 [2023-12-00; online 2023-11-28]

Clinical Genomics Stockholm [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]