Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

1980 • 8,270 citations

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

1974 • 1,022 citations

Report of the committee on human gene mapping by recombinant DNA techniques

1984 • 274 citations

Molecular basis for familial isolated growth hormone deficiency.

1981 • 250 citations

A Sensitive New Prenatal Test for Sickle-Cell Anemia

1982 • 201 citations

Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.

1981 • 192 citations

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta

1983 • 180 citations

Improved Detection of the Sickle Mutation by DNA Analysis

1982 • 171 citations

Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.

1983 • 158 citations

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

1982 • 137 citations

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

1983 • 121 citations

Molecular Heterogeneity of Inherited Antithrombin III Deficiency

1983 • 120 citations

Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

1983 • 102 citations

Oral findings in osteogenesis imperfecta

1984 • 95 citations

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

1983 • 94 citations

Genetic analysis of familial isolated growth hormone deficiency type I.

1982 • 72 citations

Prenatal diagnosis of beta-thalassemias by amniocentesis: linkage analysis using multiple polymorphic restriction endonuclease sites.

1980 • 68 citations

Genetic Disorders of Collagen Metabolism

1982 • 60 citations