Cristina Sobacchi

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

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

Chloride Channel <i>ClCN7</i> Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, S. P. Lucia et al. · Journal of Bone and Mineral Research · 2003 · 224 citations · Full text

The mutational spectrum of human malignant autosomal recessive osteopetrosis

Cristina Sobacchi · Human Molecular Genetics · 2001 · 224 citations · Full text

Bone Disease, Sclerostin, Genetic Disorder +14