Stephanie Bielas
University of Michigan(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Microtubule and mitosis dynamics, RNA modifications and cancer, Mitochondrial Function and Pathology
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
- → Photosensitivity and type I IFN responses in cutaneous lupus are driven by epidermal-derived interferon kappa(2018)262 cited
- → Exome Sequencing Can Improve Diagnosis and Alter Patient Management(2012)257 cited
- → CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium(2012)189 cited
- → Spinophilin Facilitates Dephosphorylation of Doublecortin by PP1 to Mediate Microtubule Bundling at the Axonal Wrist(2007)162 cited
- → CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders(2007)156 cited
- → CORTICAL NEURONAL MIGRATION MUTANTS SUGGEST SEPARATE BUT INTERSECTING PATHWAYS(2004)132 cited
- → Transgenic Mouse Line with Green-fluorescent Protein-labeled Centrin 2 allows Visualization of the Centrosome in Living Cells(2004)114 cited