Wedell A

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 [Service] Clinical Genomics Stockholm [Service]

PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.

Rasi C, Nilsson D, Magnusson M, ..., Wirta V, Stranneheim H

Hum. Mutat. 43 (6) 708-716 [2022-06-00; online 2022-03-07]

Clinical Genomics [Technology development] Clinical Genomics Stockholm [Technology development]

Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.

Stödberg T, Tomson T, Barbaro M, ..., Åmark P, Wedell A

Epilepsia 61 (11) 2486-2499 [2020-11-00; online 2020-09-23]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Tham E, Eklund EA, Hammarsjö A, ..., Nishimura G, Grigelioniene G

Eur J Hum Genet 24 (2) 198-207 [2016-02-00; online 2015-05-13]

Clinical Genomics Clinical Genomics Stockholm