Gianfranco Sebastio

Localization of the X inactivation centre on the human X chromosome in Xq13

Carolyn J. Brown, Ronald G. Lafrenière, Vicki E. C. Powers et al. · Nature · 1991 · 382 citations

Chromatin, Chromosome Dynamics, Developmental Biology +9

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Wendy N. Cooper, Anita Luharia, Gail A Evans et al. · European Journal of Human Genetics · 2005 · 302 citations

Genetic Disorder, Genetics, Pathogenesis +5

SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo et al. · Nature Genetics · 1999 · 263 citations

Putative Permease-related Protein, Lysinuric Protein Intolerance, Allergy +6

The human urokinase-plasminogen activator gene and its promoter

Andrea Riccio, Giovanna Grimaldi, Pasquale Verde et al. · Nucleic Acids Research · 1985 · 208 citations · Full text

The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

Gianfranco Sebastio, Maria Pia Sperandeo, Maria Panico et al. · PubMed · 1995 · 166 citations