A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies)

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 · 20.4K citations · Full text

Chromatin, Dna Sequencing, Molecular Biological Method +11

Easy calculations of lod scores and genetic risks on small computers.

G.M. Lathrop, J.-M. Lalouel · PubMed · 1984 · 1.5K citations

Combining evolutionary information and neural networks to predict protein secondary structure

Burkhard Rost, Chris Sander · Proteins Structure Function and Bioinformatics · 1994 · 1.5K citations

Evolutionary Information, Structural Bioinformatics, Genetics +18

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

Leonid Kruglyak, Mark J. Daly, Eric S. Lander · PubMed · 1995 · 227 citations

Proof of “disease causing” mutation

RGH Cotton, C. R. Scriver · Human Mutation · 1998 · 204 citations

Genetic Disorder, Genetics, Pathogenesis +6