Eliška Koňaříková

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · Nature Communications · 2017 · 566 citations · Full text

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 146 citations · Full text

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Vicente A. Yépez, Laura S. Kremer, Arcangela Iuso et al. · PLoS ONE · 2018 · 83 citations · Full text

Engineering, Outlier Wells, Outlier Data Points +16

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes et al. · 2016 · 81 citations · Full text

Sequencing, Functional Genomics, Engineering +15

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković et al. · The American Journal of Human Genetics · 2018 · 58 citations · Full text

Mitochondrial Myopathy, Mitochondrial Biogenesis, Mitochondrial Function +7