K Naess

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 253 citations · Full text

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 243 citations · Full text

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik et al. · Nature Genetics · 2012 · 205 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Mitochondrial Function +7

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen et al. · New England Journal of Medicine · 2009 · 170 citations · Full text

Neurological Disorder, Genetics, Agc1 Deficiency Associated +17

Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, K Naess et al. · Journal of Medical Genetics · 2015 · 106 citations · Full text