Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Multiple sequence alignment with hierarchical clustering

F. Corpet · Nucleic Acids Research · 1988 · 5.4K citations · Full text

Structural Bioinformatics, Genetics, Molecular Biology +18

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

Genetic Analysis, Population Genomics, Genetics +12

PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis

Jeffrey R. O'Connell, Daniel E. Weeks · The American Journal of Human Genetics · 1998 · 2.1K citations · Full text

Genetic Analysis, Haplotype Determination, Linkage Disequilibrium +12

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 989 citations · Full text

Molecular Physiology, Skeletal Muscle, Genetics +2

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)

Ichizo Nishino, Jin Fu, Kurenai Tanji et al. · Nature · 2000 · 936 citations

Ophthalmology, Medicine, Pathology +3