Uta Matysiak

The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD)

Julia Hesse, Carina Braun, Sidney Behringer et al. · Journal of Inherited Metabolic Disease · 2018 · 62 citations

Life Sciences, Biochemistry, Molecular Biology +10

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients

Michael Menzel, Stephan Ossowski, Sebastian Kral et al. · npj Precision Oncology · 2023 · 33 citations · Full text

Life Sciences, Genetics, Oncology +17

Genotype and residual enzyme activity in medium‐chain <scp>acyl‐CoA</scp> dehydrogenase (<scp>MCAD</scp>) deficiency: Are predictions possible?

Sara Tucci, Christine Wagner, Sarah C. Grünert et al. · Journal of Inherited Metabolic Disease · 2021 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors

Julia C. Kuehn, Patrick Metzger, Nicolas Neidert et al. · npj Precision Oncology · 2024 · 14 citations · Full text

Medicine, Molecular Medicine, Oncology +17

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Isabel Schüle, Urs V. Berger, Uta Matysiak et al. · Genes · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17