Laura S. Kremer

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

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Brendan J. Floyd, Emily Wilkerson, Mike T. Veling et al. · Molecular Cell · 2016 · 284 citations · Full text

Mitophagy, Signal Transduction, Mitochondrial Function +10

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

Lindsey Van Haute, Sabine Dietmann, Laura S. Kremer et al. · Nature Communications · 2016 · 245 citations · Full text

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 176 citations · Full text

Mitochondrial Myopathy, Mitophagy, Mendelian Disorder +14

Detection of aberrant splicing events in RNA-seq data using FRASER

Christian Mertes, Ines F. Scheller, Vicente A. Yépez et al. · Nature Communications · 2021 · 160 citations · Full text