Fausto Cossu

Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

Christine Kim Garcia, Kenneth R. Wilund, Marcello Arca et al. · Science · 2001 · 607 citations

Genetic Linkage of Hyper-IgE Syndrome to Chromosome 4

Bodo Grimbacher, Alejandro A. Schäffer, Steven M. Holland et al. · The American Journal of Human Genetics · 1999 · 404 citations · Full text

Genetics, Genetic Epidemiology, Genetic Linkage +1

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study

Baldassarre Martire, Roberto Rondelli, Annarosa Soresina et al. · Clinical Immunology · 2007 · 324 citations · Full text

Chronic Granulomatous Disease, Clinical Features, Clinical Dermatology +3

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Cristina Woellner, E. Michael Gertz, Alejandro A. Schäffer et al. · Journal of Allergy and Clinical Immunology · 2010 · 313 citations · Full text

Mendelian Disorder, Genetic Disorder, Pathology +3

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

Marcello Arca, Giovanni Zuliani, Kenneth R. Wilund et al. · The Lancet · 2002 · 163 citations

Cardiovascular Disease, Medicine, Genetics +8