H. Kruyer

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Xavier Estivill, Martin Farrall, Peter Scambler et al. · Nature · 1987 · 335 citations

Genetic Disorder, Medicine, Genetics +7

Confirmation of a Double-Hit Model for the NF1Gene in Benign Neurofibromas

Eduard Serra, Susana Puig, David Otero et al. · The American Journal of Human Genetics · 1997 · 243 citations · Full text

Neuro-oncology, Neuromas, Fibrosis +8

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Conxi Lázaro, Antonia Gaona, Peter Ainsworth et al. · Human Genetics · 1996 · 97 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

H. Kruyer, Montserrat Milà, G. Glóver et al. · PubMed · 1994 · 96 citations

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

Frederick Tata, Philip Stanier, Carol Wicking et al. · Genomics · 1991 · 96 citations

Knockout Mouse, Molecular Physiology, Signal Transduction +10