Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections

by Prakash, Siddharth, Kuang, Shao-Qing, Regalado, Ellen, Guo, Dongchuan, Milewicz, Dianna
Published 2016

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

by Kuang, Shao-Qing, Guo, Dong-Chuan, Prakash, Siddharth K., McDonald, Merry-Lynn N., Johnson, Ralph J., Wang, Min, Regalado, Ellen S., Russell, Ludivine, Cao, Jiu-Mei, Kwartler, Callie, Fraivillig, Kurt, Coselli, Joseph S., Safi, Hazim J., Estrera, Anthony L., Leal, Suzanne M., LeMaire, Scott A., Belmont, John W., Milewicz, Dianna M.
Published 2011

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

by Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.
Published 2012