Jelena Pozojevic
Humboldt-Universität zu Berlin(DE)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, RNA Research and Splicing, Genetic Neurodegenerative Diseases, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism(2019)92 cited
- → De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes(2015)89 cited
- → Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes(2017)82 cited
- → Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype(2015)76 cited
- → Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism(2021)65 cited
- → Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes(2015)64 cited
- → Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases(2017)49 cited
- → Expanding the clinical spectrum of the ‘HDAC8‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction(2015)43 cited
- → A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy(2024)42 cited
- → Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics(2014)34 cited