Aida M. Bertoli‐Avella

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Ingrid M.B.H. van de Laar, Rogier A. Oldenburg, Gerard Pals et al. · Nature Genetics · 2011 · 663 citations

Cartilage Degeneration, Osteoarthritis, Pathology +6

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 361 citations · Full text

Wes Processes, Genetics, Genetic Epidemiology +21

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Aida M. Bertoli‐Avella, Elisabeth Gillis, Hiroko Morisaki et al. · Journal of the American College of Cardiology · 2015 · 290 citations · Full text

Exome Sequencing Identifies <i>SMAD3</i> Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

Ellen S. Regalado, Dongchuan Guo, Carlos Villamizar et al. · Circulation Research · 2011 · 288 citations · Full text

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

Ingrid M.B.H. van de Laar, Denise van der Linde, E.H. Oei et al. · Journal of Medical Genetics · 2011 · 249 citations