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

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu, +21

Nature Genetics

MechanobiologyPhysiologyCytoskeletonAortic AneurysmsSmooth Muscle α-Actin +2

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, +9

The American Journal of Human Genetics

CardiomyopathyHighly Conserved RegionGeneticsMissense MutationBedouin Families +4

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, +28

The American Journal of Human Genetics

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

Iris Eisenberg, Nili Avidan, Tamara Potikha, +17

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular BiologyDegenerative Disease +3

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher, +7

Nature Genetics

Disease MechanismPathogenesisPathologyHost GeneticsMedicine +2

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, +11

Circulation Research

Mechanisms for Evolving Hypervariability: The Case of Conopeptides

Silvestro G. Conticello, Yoav Gilad, Nili Avidan, +3

Molecular Biology and Evolution

CATSPER2, a human autosomal nonsyndromic male infertility gene

Nili Avidan, Hannah Tamary, Orly Dgany, +18

European Journal of Human Genetics

InfertilityAndrologyFertilityGeneticsMale Infertility +3

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Avital Adato, Sarah Vreugde, Tarja Joensuu, +15

European Journal of Human Genetics

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Orly Dgany, Nili Avidan, J. Delaunay, +21

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseHematology +6