Yorck Hellenbroich
University Hospital Schleswig-Holstein(DE)University of Lübeck(DE)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms
Most-Cited Works
- → Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
- → Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies(2013)227 cited
- → Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics(2011)209 cited
- → Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients(2007)154 cited
- → Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia(2001)115 cited
- → Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias(2004)101 cited