Bodo Beck

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.

Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS.

Markus M. Rinschen, T. Benzing, M. Höhne, 2016, Human molecular genetics.

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.

G. Mandrile, D. Giachino, A. Baasner, 2010, Human genetics.