Genetic Diagnosis and the Severity of Cardiovascular Phenotype in Patients With Elastin Arteriopathy

por Min, Sandar, Kinnear, Caroline, D’Alessandro, Lisa C.A., Bouwmeester, Jade, Yao, Roderick, Chiasson, David, Keeley, Fred, Mital, Seema
Publicado 2020

Exome Sequencing Identifies Rare Variants in Multiple Genes in Atrioventricular Septal Defect

por D’Alessandro, Lisa C.A., Al Turki, Saeed, Manickaraj, Ashok Kumar, Manase, Dorin, Mulder, Barbara J.M., Bergin, Lynn, Rosenberg, Herschel C., Mondal, Tapas, Gordon, Elaine, Lougheed, Jane, Smythe, John, Devriendt, Koen, Bhattacharya, Shoumo, Watkins, Hugh, Bentham, Jamie, Bowdin, Sarah, Hurles, Matthew E., Mital, Seema
Publicado 2015

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

por Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Publicado 2017