Carol E. Dowling

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Corinne Wong, Carol E. Dowling, Randall K. Saiki et al. · Nature · 1987 · 505 citations

Life Sciences, Genetics, Molecular Genetics +10

Etiology of Growth Hormone Deficiency in Little, Ames, and Snell Dwarf Mice^*

Tiffany Cheng, Wesley G. Beamer, A. Bartke et al. · Endocrinology · 1983 · 155 citations

Medicine, Endocrinology, Genetics +17

Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.

Deborah Rund, Tara Cohen, Dvora Filon et al. · Proceedings of the National Academy of Sciences · 1991 · 107 citations

Life Sciences, Genetics, Molecular Genetics +10

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

Grant A. Mitchell, Lawrence C. Brody, James E. Looney et al. · Journal of Clinical Investigation · 1988 · 106 citations · Full text

Medicine, Genetics, Molecular Genetics +13

A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

Barbara L. Triggs‐Raine, Emilie H. Mules, Michael M. Kaback et al. · PubMed · 1992 · 77 citations

Life Sciences, Genetics, Molecular Genetics +10