Concepedia

Cristina Sobacchi

CS

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Publications

54

Citations

3.6K

H-Index

30

Active since

1999

Affiliations

Institute of Genetic and Biomedical Research(Current)

Humanitas University

Institute of Biomedical Technologies

IRCCS Humanitas Research Hospital

National Research Council

Cristina Sobacchi is an author at Institute of Genetic and Biomedical Research specializing in genetics, bone metabolism, and life sciences.

Publications per year

1999–2024

54

Publications

54

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

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

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini et al. · Nature Genetics · 2007 · 387 citations

Medicine, Genetics, Molecular Genetics +12

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 · 307 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +11

The mutational spectrum of human malignant autosomal recessive osteopetrosis

Cristina Sobacchi · Human Molecular Genetics · 2001 · 227 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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

Annalisa Frattini, Alessandra Pangrazio, Cristina Sobacchi et al. · Journal of Bone and Mineral Research · 2003 · 225 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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