Jan P. Dumanski

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau, P. Merel, Mohini Lutchman et al. · Nature · 1993 · 1.4K citations

Neurodegenerative Diseases, Fibrosis, Developmental Biology +10

The DNA sequence of human chromosome 22

Ian Dunham, Adrienne Hunt, John Collins et al. · Nature · 1999 · 1.2K citations · Full text

Comparative Genomics, Genetics, Molecular Genetics +20

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

Carl E.G. Bruder, Arkadiusz Piotrowski, Antoinet A.C.J. Gijsbers et al. · The American Journal of Human Genetics · 2008 · 595 citations · Full text

Genetic Analysis, Allelic Variant, Population Genetics +12

Evidence for the complete inactivation of the NF2 gene in the majority of sporadic meningiomas

Martin Ruttledge, Julie Sarrazin, Shyam Rangaratnam et al. · Nature Genetics · 1994 · 564 citations

Developmental Biology, Nf2 Gene, Mendelian Disorder +6

Deregulation of the platelet-derived growth factor β-chain gene via fusion with collagen gene COL1A1 in dermatof ibrosarcoma protuberans and giant-cell fibroblastoma

Marie-Pierre Simon, Florence Pédeutour, Nicolas Sirvent et al. · Nature Genetics · 1997 · 526 citations

Giant-cell Fibroblastoma, Pathology, Dermatof Ibrosarcoma Protuberans +9