Nadia Akawi

Quantifying the contribution of recessive coding variation to developmental disorders

Hilary C. Martin, Wendy D. Jones, Rebecca E. McIntyre et al. · Science · 2018 · 214 citations · Full text

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 112 citations · Full text

Biallelic Variants, Genetics, Neuroscience +3

Fat-Secreted Ceramides Regulate Vascular Redox State and Influence Outcomes in Patients With Cardiovascular Disease

Nadia Akawi, Antonio Checa, Alexios S. Antonopoulos et al. · Journal of the American College of Cardiology · 2021 · 112 citations · Full text

Effects of canagliflozin on human myocardial redox signalling: clinical implications

Hidekazu Kondo, Ioannis Akoumianakis, Ileana Badi et al. · European Heart Journal · 2021 · 110 citations · Full text

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie et al. · The American Journal of Human Genetics · 2010 · 104 citations · Full text

Ophthalmology, Genetic Disorder, Medicine +7