Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

Life Sciences, Genetics, Human Development +10

The <i>α</i>/<i>β</i> hydrolase fold

David L. Ollis, Eong Cheah, Mirosław Cygler et al. · Protein Engineering Design and Selection · 1992 · 2.1K citations · Full text

Life Sciences, Biochemistry, Evolutionary Biology +17

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · PubMed · 1985 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +11

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Johanna Hästbacka, Albert de la Chapelle, Ilkka Kaitila et al. · Nature Genetics · 1992 · 569 citations

Life Sciences, Genetics, Molecular Genetics +6

Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Marcel Huber, Irmingard Rettler, Katja Bernasconi et al. · Science · 1995 · 485 citations

Medicine, Genetics, Molecular Genetics +16