Duga, Stefano

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Khera, A. V., Won, H.-H., Peloso, G. M., Lawson, K. S., Bartz, T. M., Deng, X., van Leeuwen, E. M., Natarajan, P., Emdin, C. A., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 942

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 650

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Won, H.-H., Peloso, G. M., Stitziel, N. O., Nomura, A., Zekavat, S. M., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 244

Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease

Khera, A. V., Won, H.-H., Peloso, G. M., O’Dushlaine, C., Liu, D., Stitziel, N. O., Natarajan, P., Nomura, A., Emdin, C. A., Gupta, N., et al. (2017) · JAMA

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 198

A frequent oligogenic involvement in congenital hypothyroidism

de Filippis, T., Gelmini, G., Paraboschi, E., Vigone, M. C., Di Frenna, M., Marelli, F., Bonomi, M., Cassio, A., Larizza, D., Moro, M., et al. (2017) · Human Molecular Genetics

Genomics and Rare DiseasesThyroid Disorders and Treatments

Cited by 145

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Soldà, G., Robusto, M., Primignani, P., Castorina, P., Benzoni, E., Cesarani, A., Ambrosetti, U., Asselta, R., & Duga, S. (2012) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsMicroRNA in disease regulation

Cited by 102

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

Asselta, R., Paraboschi, E. M., Gerussi, A., Cordell, H. J., Mells, G. F., Sandford, R. N., Jones, D. E., Nakamura, M., Ueno, K., Hitomi, Y., et al. (2021) · Gastroenterology

Liver Diseases and ImmunityGenetic Associations and Epidemiology

Cited by 55