Natalie Pluta

The Genetic Approach: Next-Generation Sequencing-Based Diagnosis of Congenital and Infantile Myopathies/Muscle Dystrophies

W. Kress, S. Rost, C. Müller-Reible, 2017, Neuropediatrics.

New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis

D. Messroghli, E. Klopocki, C. Maack, 2020, Journal of clinical medicine.

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

M. Vorgerd, S. Rost, T. Lücke, 2022, Genes.

A case report of Sanfilippo syndrome – the long way to diagnosis

D. Lorenz, E. Kunstmann, H. Hebestreit, 2022, BMC Neurology.

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

A. von Moers, A. Pechmann, Natalie Pluta, 2023, International journal of molecular sciences.