Aida M. Bertoli‐Avella
Centogene (Germany)(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Connective tissue disorders research, RNA regulation and disease
Most-Cited Works
- → Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis(2011)663 cited
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections(2015)291 cited
- → Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms(2011)288 cited
- → Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome(2011)249 cited
- → The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson’s disease and originates from a common ancestor(2005)195 cited
- → Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy(2009)172 cited
- → A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population(2007)162 cited
- → Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems(2005)148 cited
- → Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants(2012)147 cited