Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 36.1K citations · Full text

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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

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Estimation of the Inbreeding Coefficient through Use of Genomic Data

Anne‐Louise Leutenegger, Bernard Prum, Emmanuelle Génin et al. · The American Journal of Human Genetics · 2003 · 298 citations · Full text

Life Sciences, Biology, Genetics +14

HaploPainter: a tool for drawing pedigrees with complex haplotypes

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

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Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse

Hanlin Gao, Rose-Mary N. Boustany, Janice A. Espinola et al. · The American Journal of Human Genetics · 2002 · 223 citations · Full text

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