Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

The detection of disease clustering and a generalized regression approach.

1967 • 11,489 citations

Linear Statistical Inference and its Applications

1973 • 10,599 citations

Multiple Regression and Correlation Extensions of the Mantel Test of Matrix Correspondence

1986 • 2,181 citations

Linkage disequilibrium in finite populations

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Über Ausscheidung von Phenylbrenztraubensäure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillität.

1934 • 526 citations

Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

1984 • 415 citations

THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA

1984 • 404 citations

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria

1983 • 334 citations

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

1985 • 325 citations

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1986 • 249 citations

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.

1980 • 194 citations

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1948 • 178 citations

Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene

1986 • 174 citations

Sample sizes required to detect linkage disequilibrium between two or three loci

1975 • 171 citations

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

1985 • 152 citations

THE SAMPLING DISTRIBUTION OF LINKAGE DISEQUILIBRIUM UNDER AN INFINITE ALLELE MODEL WITHOUT SELECTION

1985 • 151 citations

Gene Transfer and Expression of Human Phenylalanine Hydroxylase

1985 • 131 citations

Evidence for increased recombination near the human insulin gene: implication for disease association studies.

1986 • 113 citations

Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.

1984 • 100 citations

A locus on chromosome 11p with multiple restriction site polymorphisms.

1984 • 99 citations

THE SAMPLING DISTRIBUTION OF LINKAGE DISEQUILIBRIUM

1984 • 84 citations

Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

1985 • 81 citations

PRENATAL DIAGNOSIS OF CLASSIC PHENYLKETONURIA BY DNA ANALYSIS

1985 • 60 citations

Report of the committee on the genetic constitution of chromosome 6

1982 • 57 citations

Duplication/deletion polymorphism 5′- to the human β globin gene

1981 • 55 citations

The PKU locus in man is on chromosome 12.

1984 • 55 citations

Recombination Hot Spot in the Human β-Globin Gene Cluster: Meiotic Recombination of Human DNA Fragments in Saccharomyces cerevisiae

1985 • 47 citations

A strategy for using multiple linked markers for genetic counseling.

1985 • 39 citations

POLYMORPHIC DNA HAPLOTYPES AT THE PHENYLALANINE HYDROXYLASE LOCUS IN PRENATAL DIAGNOSIS OF PHENYLKETONURIA

1986 • 38 citations

Utility and efficiency of linked marker genes for genetic counseling. II. Identification of linkage phase by offspring phenotypes.

1982 • 16 citations

A study of the cause of the high incidence of phenylketonuria in Ireland and west Scotland.

1976 • 13 citations

Estimation of linkage disequilibrium from conditional haplotype data: Application to β‐globin gene cluster in American blacks

1986 • 4 citations