Nili Avidan

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 835 citations

Mechanobiology, Physiology, Cytoskeleton +4

A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

Hadas Lahat, Elon Pras, Tsviya Olender et al. · The American Journal of Human Genetics · 2001 · 647 citations · Full text

Cardiomyopathy, Highly Conserved Region, Genetics +6

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran‐Fadulu et al. · The American Journal of Human Genetics · 2009 · 565 citations · Full text

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Iris Eisenberg, Nili Avidan, Tamara Potikha et al. · Nature Genetics · 2001 · 522 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher et al. · Nature Genetics · 2000 · 398 citations

Disease Mechanism, Pathogenesis, Pathology +4