Dragana Josifova
Guy's and St Thomas' NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, RNA regulation and disease
Most-Cited Works
- → A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition(2011)647 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy(2012)279 cited
- → Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients(2013)218 cited
- → Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54(2010)195 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
- → Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients(2010)150 cited
- → Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum(2011)129 cited
- → Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations(2016)122 cited
- → Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C(2008)109 cited