Lesley C. Adès

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 835 citations

Mechanobiology, Physiology, Cytoskeleton +4

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

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

Karen W. Gripp, David Wotton, Michael C. Edwards et al. · Nature Genetics · 2000 · 390 citations

Developmental Biology, Molecular Neuroscience, Neurogenomics +11

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Marjolijn Renard, Catherine Francis, Rajarshi Ghosh et al. · Journal of the American College of Cardiology · 2018 · 289 citations · Full text

Clinical Validity, Aortic Diseases, Genetics +7