Lesley C. Adès
The University of Sydney(AU)Children's Hospital at Westmead(AU)Sydney Children’s Hospitals Network(AU)
Publications by Year
Research Areas
Connective tissue disorders research, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cardiac Valve Diseases and Treatments, Aortic Disease and Treatment Approaches
Most-Cited Works
- → Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections(2007)838 cited
- → Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study(2007)596 cited
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.(1997)
- → Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination(2000)392 cited
- → Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database(2003)330 cited
- → Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection(2018)291 cited
- → RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation