Silvia Giliani

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 885 citations

Life Sciences, Genetics, Molecular Genetics +13

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi et al. · Nature Genetics · 2000 · 676 citations

Life Sciences, Genetics, Molecular Genetics +6

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Bertrand Boisson, Emmanuel Laplantine, Carolina Prando et al. · Nature Immunology · 2012 · 474 citations · Full text

Life Sciences, Genetics, Immunology +13

X-Linked Lymphoproliferative Disease

Silvia Parolini, Cristina Bottino, Michela Falco et al. · The Journal of Experimental Medicine · 2000 · 467 citations · Full text

Life Sciences, Immunology, Molecular Biology +15

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Anna Villa, Sandro Santagata, Fabio Bozzi et al. · Cell · 1998 · 462 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11