Generoso Andria

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

S. Harvey Mudd, Flemming Skovby, Harvey L. Levy et al. · PubMed · 1985 · 1.3K citations

Loss‐of‐function mutations in the Na _v 1.7 gene underlie congenital indifference to pain in multiple human populations

Y. Paul Goldberg, Julie MacFarlane, ML MacDonald et al. · Clinical Genetics · 2007 · 448 citations

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

Brunella Franco, Germana Meroni, Giancarlo Parenti et al. · Cell · 1995 · 316 citations · Full text

Developmental Biology, Chondrodysplasia Punctata, Genetic Disorder +10

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Andrea Ballabio, Barbara Bardoni, Rosalba Carrozzo et al. · Proceedings of the National Academy of Sciences · 1989 · 264 citations · Full text

Short Stature, Cytogenetics, Genetics +22

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