Mirjana Gušić

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 184 citations · Full text

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

Detection of aberrant gene expression events in RNA sequencing data

Vicente A. Yépez, Christian Mertes, Michaela Müller et al. · Nature Protocols · 2021 · 141 citations · Full text

Functional Genomics, Sequencing, Gene Sequence Annotation +12

Quantification and discovery of sequence determinants of protein‐per‐mRNA amount in 29 human tissues

Basak Eraslan, Dongxue Wang, Mirjana Gušić et al. · Molecular Systems Biology · 2019 · 95 citations · Full text

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

Valentina Del Dotto, Farid Ullah, Ivano Di Meo et al. · Journal of Clinical Investigation · 2019 · 91 citations · Full text

Mtdna Depletion, Mitochondrial Dysfunction, Genetics +16