The American Journal of Human Genetics · 2000 · 89 citations · 26 references
Mendelian DisorderGenetic DisorderMedicineGeneticsPathologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationCochlear DevelopmentNeuromuscular PathologyClinical Genetics
26
The DNA sequence of human chromosome 22
Ian Dunham, Adrienne Hunt, John Collins et al. · Nature · 1999 · 1.2K citations · Full text
Defective myosin VIIA gene responsible for Usher syndrome type IB
Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations
A type VII myosin encoded by the mouse deafness gene shaker-1
Faith Gibson, James Walsh, Philomena Mburu et al. · Nature · 1995 · 677 citations
Positional cloning moves from perditional to traditional
Francis S. Collins · Nature Genetics · 1995 · 596 citations