Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Genomic sequencing.

George M. Church, W Gilbert · Proceedings of the National Academy of Sciences · 1984 · 8.2K citations · Full text

Dna Sequencing, Dna, Molecular Biological Method +13

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Breakpoint Cluster Region, Fragile X Syndrome, Mendelian Disorder +11

Characterization of the human factor VIII gene

Jane Gitschier, William I. Wood, Therese M. Goralka et al. · Nature · 1984 · 985 citations

Disease Mechanism, Medicine, Genetics +6

An electrophoretic karyotype for yeast.

Georges F. Carle, Maynard V. Olson · Proceedings of the National Academy of Sciences · 1985 · 789 citations · Full text

Fungal Cell Biology, Cytogenetics, Genetics +18

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

Nature · 1986 · 472 citations

Mendelian Disorder, Genetic Disorder, Duchenne Muscular Dystrophy +10