Rocio Moran

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

Dongchuan Guo, Ellen S. Regalado, Limin Gong et al. · Circulation Research · 2016 · 207 citations

USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer et al. · Molecular Cell · 2015 · 200 citations · Full text

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 151 citations

Neurological Disorder, Genetics, Spastic Paraparesis +20

Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations

Ellen S. Regalado, Dongchuan Guo, Siddharth K. Prakash et al. · Circulation Cardiovascular Genetics · 2015 · 148 citations · Full text

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite et al. · Journal of Medical Genetics · 2011 · 133 citations · Full text