Gessica Truglio
Sapienza University of Rome(IT)
Publications by Year
Research Areas
Lipoproteins and Cardiovascular Health, Cystic Fibrosis Research Advances, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Lipid metabolism and disorders
Most-Cited Works
- → Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly(2017)217 cited
- → PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum(2018)79 cited
- → A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family(2018)27 cited
- → The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis(2016)21 cited
- → DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes(2021)19 cited
- → Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects(2015)15 cited
- → A Model Program for Translational Medicine in Epilepsy Genetics(2017)10 cited
- → The basal energy expenditure of female athletes vs. sedentary women as related to their family history of type 2 diabetes(2001)9 cited
- → Correction: Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects(2015)1 cited
- → Expression and DNA methylation of ENaC genes(2010)