Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

Detection of specific sequences among DNA fragments separated by gel electrophoresis

E.M. Southern · Journal of Molecular Biology · 1975 · 32.8K citations

Life Sciences, Molecular Biology, Molecular Genetics +12

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

Medicine, Genetics, Molecular Genetics +17

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Radiation Hybrid Mapping: A Somatic Cell Genetic Method for Constructing High-Resolution Maps of Mammalian Chromosomes

David R. Cox, Margit Burmeister, Edward Price et al. · Science · 1990 · 627 citations

Life Sciences, Genetics, Molecular Genetics +15

Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy

Terry Hassold, Darryl Chiu · Human Genetics · 1985 · 483 citations

Life Sciences, Genetics, Obstetrics +16