The Human as an Experimental System in Molecular Genetics

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

1980 • 8,270 citations

A Receptor-Mediated Pathway for Cholesterol Homeostasis

1986 • 5,638 citations

Hypervariable ‘minisatellite’ regions in human DNA

1985 • 3,789 citations

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

1986 • 2,968 citations

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

1984 • 2,847 citations

Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells

1987 • 2,368 citations

A polymorphic DNA marker genetically linked to Huntington's disease

1983 • 2,329 citations

Efficient isolation of genes by using antibody probes.

1983 • 2,065 citations

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

1983 • 1,952 citations

Genetic variants and strains of the laboratory mouse

1990 • 1,519 citations

Localization of the gene for familial adenomatous polyposis on chromosome 5

1987 • 1,386 citations

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

1986 • 1,033 citations

Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma

1988 • 1,022 citations

Characterization of the human factor VIII gene

1984 • 983 citations

The sex-determining region of the human Y chromosome encodes a finger protein

1987 • 847 citations

Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

1986 • 839 citations

Coexpression of MMTV/v-Ha-ras and MMTV/c-myc genes in transgenic mice: Synergistic action of oncogenes in vivo

1987 • 796 citations

A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16

1985 • 715 citations

Constitutive Fragile Sites and Cancer

1984 • 693 citations

Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

1987 • 691 citations

The Gene for Familial Polyposis Coli Maps to the Long Arm of Chromosome 5

1987 • 683 citations

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

Chromosome 5 allele loss in human colorectal carcinomas

1987 • 566 citations

Localization of cystic fibrosis locus to human chromosome 7cen–q22

1985 • 498 citations

Cystic Fibrosis Locus Defined by a Genetically Linked Polymorphic DNA Marker

1985 • 488 citations

A potential animal model for Lesch–Nyhan syndrome through introduction of HPRT mutations into mice

1987 • 487 citations

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1987 • 470 citations

A closely linked genetic marker for cystic fibrosis

1985 • 463 citations

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

1985 • 455 citations

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10

1987 • 440 citations

Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage

1987 • 423 citations

MENKES' KINKY-HAIR SYNDROME

1972 • 418 citations

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

1984 • 404 citations

Expression of a myelin basic protein gene in transgenic shiverer mice: Correction of the dysmyelinating phenotype

1987 • 389 citations

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

1987 • 379 citations

Generation of cDNA Probes Directed by Amino Acid Sequence: Cloning of Urate Oxidase

1988 • 325 citations

Evidence for the Involvement of GM-CSF and FMS in the Deletion (5q) in Myeloid Disorders

1986 • 233 citations

Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.

1989 • 219 citations

Expression of the Murine Duchenne Muscular Dystrophy Gene in Muscle and Brain

1988 • 190 citations

Partial correction of murine hereditary growth disorder by germ-line incorporation of a new gene

1984 • 187 citations

Miller-Dieker syndrome: Lissencephaly andmonosomy 17p

1983 • 186 citations

Chromosome Abnormalities in Malignant Hematologic Diseases

1982 • 180 citations

_{Predictive Testing for Huntingtons Disease with Use of a Linked DNA Marker}

1988 • 169 citations

cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA.

1983 • 168 citations

Associations between morphology, karyotype, and clinical features in myeloid leukemias

1987 • 154 citations

Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage

1987 • 149 citations

Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.

1982 • 136 citations

Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line.

1981 • 135 citations

A microchemical facility for the analysis and synthesis of genes and proteins

1984 • 134 citations

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.

1982 • 117 citations

Prediction of Familial Predisposition to Retinoblastoma

1986 • 117 citations

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

1982 • 113 citations

Fragile X Syndrome: A Unique Mutation in Man

1986 • 106 citations

Retinoblastoma and the progression of tumor genetics

1988 • 80 citations

A genetic study of Wilson's disease: evidence for heterogeneity.

1972 • 65 citations

cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts.

1984 • 64 citations

Mapping of four distinct BCR-related loci to chromosome region 22q11: order of BCR loci relative to chronic myelogenous leukemia and acute lymphoblastic leukemia breakpoints.

1987 • 62 citations

A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease.

1986 • 39 citations

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

1987 • 32 citations

First trimester diagnosis of lesch‐nyhan syndrome: Applications to other disorders of purine metabolism

1985 • 11 citations

DMD carrier detection and prenatal diagnosis via recombinant DNA methods.

1988 • 4 citations