Melissa A. Parisi
Eunice Kennedy Shriver National Institute of Child Health and Human Development(US)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies, Metabolism and Genetic Disorders, Genomics and Rare Diseases
Most-Cited Works
- → PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome(1999)610 cited
- → The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4(2006)572 cited
- → Similarity of Human Mitochondrial Transcription Factor 1 to High Mobility Group Proteins(1991)543 cited
- → Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome(2007)321 cited
- → DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein.(1992)318 cited
- → Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity(2015)295 cited