Jonas Denecke
Universität Hamburg(DE)Eppendorf (Germany)(DE)Klinik und Poliklinik für Kinder- und Jugendmedizin(DE)University Medical Center Hamburg-Eppendorf(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies(2003)293 cited
- → Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II(2009)283 cited
- → Lessons learned from additional research analyses of unsolved clinical exome cases(2017)232 cited
- → Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization(2010)178 cited
- → Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany(2018)148 cited
- → BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells(2018)132 cited