Regie Lyn P. Santos‐Cortez

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

Cathérine Boileau, Dong Guo, Nadine Hanna et al. · Nature Genetics · 2012 · 379 citations

Medicine, Genetics, Molecular Genetics +14

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 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Dongchuan Guo, Ellen S. Regalado, Darren E. Casteel et al. · The American Journal of Human Genetics · 2013 · 250 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +8

<i>LOX</i> Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

Dongchuan Guo, Ellen S. Regalado, Limin Gong et al. · Circulation Research · 2016 · 214 citations

Life Sciences, Genetics, Molecular Genetics +15