Mutations in the cardiac myosin binding protein–C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Strategies for multilocus linkage analysis in humans.

G.M. Lathrop, J.-M. Lalouel, Cécile Julier et al. · Proceedings of the National Academy of Sciences · 1984 · 2.6K citations · Full text

Life Sciences, Genetics, Genomics +16

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Anja A. T. Geisterfer-Lowrance, Susan Kass, G Tanigawa et al. · Cell · 1990 · 1.4K citations

Medicine, Genetics, Molecular Genetics +10

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

Ludwig Thierfelder, Hugh Watkins, Calum A. MacRae et al. · Cell · 1994 · 1K citations

Medicine, Genetics, Molecular Genetics +10

The metabolic basis of inherited disease

JL Goldstein · Medical Entomology and Zoology · 1995 · 1K citations

Life Sciences, Genetics, Molecular Genetics +13