Dario Strina

X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene

Anna Villa, Luigi D. Notarangelo, Paolo Macchi et al. · Nature Genetics · 1995 · 285 citations

Life Sciences, Genetics, Hematology +13

Structural and Functional Basis for JAK3-Deficient Severe Combined Immunodeficiency

Fabio Candotti, Scott A. Oakes, James A. Johnston et al. · Blood · 1997 · 142 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +14

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

Alessandra Pangrazio, Barbara Cassani, Matteo M. Guerrini et al. · Journal of Bone and Mineral Research · 2011 · 78 citations · Full text

Medicine, Genetics, Bone Metabolism +6

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Anna Villa, Luigi D. Notarangelo, James P. Di Santo et al. · Proceedings of the National Academy of Sciences · 1994 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the <i>Rag2</i> mouse model of Omenn syndrome

Barbara Cassani, Pietro Luigi Poliani, Veronica Marrella et al. · The Journal of Experimental Medicine · 2010 · 66 citations · Full text

Life Sciences, Genetics, Immunology +17