Osteopetrosis: genetics, treatment and new insights into osteoclast functionCristina Sobacchi, Miep Helfrich, Ansgar Schulz et al.|Nature Reviews Endocrinology|2013Cited by 580
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKLCristina Sobacchi, Miep Helfrich, Annalisa Frattini et al.|Nature Genetics|2007Cited by 387
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) MutationsMatteo M. Guerrini, Annalisa Frattini, Cristina Sobacchi et al.|The American Journal of Human Genetics|2008Cited by 307
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansLiesbeth Van Wesenbeeck, Wim Van Hul, Anna Villa et al.|Journal of Clinical Investigation|2007Cited by 235
AIRE deficiency in thymus of 2 patients with Omenn syndromePatrizia Cavadini, Raffaele Badolato, William Vermi et al.|Journal of Clinical Investigation|2005Cited by 152