Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing

por Zaum, Ann‐Kathrin, Nanda, Indrajit, Kress, Wolfram, Rost, Simone
Publicado 2022

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

por Lorenz, Delia, Kress, Wolfram, Zaum, Ann-Kathrin, Speer, Christian P., Hebestreit, Helge
Publicado 2021

Whole-Genome Sequencing Identified New Structural Variations in the DMD Gene That Cause Duchenne Muscular Dystrophy in Two Girls

por Pluta, Natalie, von Moers, Arpad, Pechmann, Astrid, Stenzel, Werner, Goebel, Hans-Hilmar, Atlan, David, Wolf, Beat, Nanda, Indrajit, Zaum, Ann-Kathrin, Rost, Simone
Publicado 2023

Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy

por Pluta, Natalie, Hoffjan, Sabine, Zimmer, Frederic, Köhler, Cornelia, Lücke, Thomas, Mohr, Jennifer, Vorgerd, Matthias, Nguyen, Hoa Huu Phuc, Atlan, David, Wolf, Beat, Zaum, Ann-Kathrin, Rost, Simone
Publicado 2022