S. Markus

Extension of the clinical and molecular phenotype of DIAPH1‐associated autosomal dominant hearing loss (DFNA1)

U. Zimmermann, M. Knipper, H. Bolz, 2017, Clinical genetics.

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

S. Markus, J. Fischer, R. Betz, 2016, Acta dermato-venereologica.

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome

B. Lorenz, H. Stöhr, P. Charbel Issa, 2017, Molecular genetics & genomic medicine.

Antenatal Diagnosis of Dizygotic, Monochorionic Twins Following IVF/ICSI

S. Markus, O. Ortmann, M. Bals-Pratsch, 2016, Geburtshilfe und Frauenheilkunde.

Diagnostic value of partial exome sequencing in developmental disorders

A. Rump, B. Klink, S. Markus, 2018, PloS one.

Genome sequencing in families with congenital limb malformations

D. Horn, S. Mundlos, M. Spielmann, 2021, Human Genetics.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

A. Fischer, J. Casanova, C. Picard, 2018, Proceedings of the National Academy of Sciences.

Correction: Diagnostic value of partial exome sequencing in developmental disorders

A. Rump, B. Klink, S. Markus, 2020, PloS one.