Annalisa Frattini

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

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 882 citations

Primary Immunodeficiency, Immunogenetics, Immune Deficiency +10

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 · 673 citations

Vacuolar Proton Pump, Bone Morphogenic Protein, Genetics +5

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

Anna Villa, Sandro Santagata, Fabio Bozzi et al. · Cell · 1998 · 460 citations · Full text

Partial V, Genetic Disorder, Genetics +4

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini et al. · Nature Genetics · 2007 · 378 citations

Bone Disease, Sclerostin, Developmental Biology +9

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani et al. · The American Journal of Human Genetics · 2008 · 299 citations · Full text

Bone Disease, Rheumatology, Immunology +5