Dominika Swistun
Howard Hughes Medical Institute(US)University of California San Diego(US)University of California, San Diego(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Glycosylation and Glycoproteins Research, Renal and related cancers, Epigenetics and DNA Methylation
Most-Cited Works
- → Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies(2009)409 cited
- → Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome(2008)395 cited
- → SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder(2010)307 cited
- → Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes(2010)282 cited
- → NovelTMEM67mutations and genotype-phenotype correlates in meckelin-related ciliopathies(2010)89 cited
- → Expanding CEP290 mutational spectrum in ciliopathies(2009)43 cited
- → Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum(2010)15 cited
- SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation(2010)