Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

Life Sciences, Bioinformatics, Genetics +15

Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease

Saule Naureckiene, David E. Sleat, Henry Lackland et al. · Science · 2000 · 829 citations

Life Sciences, Genetics, Molecular Genetics +17

Protamine-Cre recombinase transgenes efficiently recombine target sequences in the male germ line of mice, but not in embryonic stem cells

Stephen O’Gorman, Nicole Dagenais, Min Qian et al. · Proceedings of the National Academy of Sciences · 1997 · 436 citations · Full text

Veterinary Medicine, Genetics, Molecular Genetics +17

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng et al. · Cell · 2010 · 311 citations · Full text

Life Sciences, Genetics, Molecular Biology +12

HaploPainter: a tool for drawing pedigrees with complex haplotypes

Holger Thiele, Peter Nürnberg · Computer applications in the biosciences · 2004 · 277 citations · Full text

Life Sciences, Genetics, Visualization +16