Uta Matysiak

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

M. Schmidts, S. Grünert, B. Stiller, 2021, Genes.

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

C. Willoughby, A. Galeotti, A. Avendaño, 2019, Molecular Syndromology.

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

W. Driever, C. Niemeyer, M. Zenker, 2021, Human molecular genetics.

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

C. Willoughby, A. Avendaño, M. Callea, 2021, Journal of Pediatric Genetics.

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

J. Hesse, S. Tucci, Sidney Behringer, 2018, Journal of Inherited Metabolic Disease.

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

S. Grünert, F. Porta, M. Spada, 2021, Journal of inherited metabolic disease.

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

M. Schmidts, S. Grünert, E. Lausch, 2021, Diagnostics.

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

J. Budczies, M. Boerries, S. Lassmann, 2023, NPJ precision oncology.