Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Life Sciences, Genetics, Genomics +16

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Rita Shiang, Leslie M. Thompson, Yazhen Zhu et al. · Cell · 1994 · 1.3K citations

Life Sciences, Genetics, Molecular Genetics +13