Genetic cause of a Juvenile Form of Sandhoff Disease

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I

1977 • 12,015 citations

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1972 • 6,922 citations

A simple and very efficient method for generating cDNA libraries

1983 • 4,606 citations

Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.

1983 • 2,456 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

An Improved Method for Prenatal Diagnosis of Genetic Diseases by Analysis of Amplified DNA Sequences

1987 • 811 citations

Isolation and partial characterization of the Drosophila alcohol dehydrogenase gene.

1980 • 570 citations

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

1987 • 514 citations

Genomic Amplification with Transcript Sequencing

1988 • 324 citations

Partial Enzyme Deficiencies: Residual Activities and the Development of Neurological Disorders

1983 • 273 citations

Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

1986 • 176 citations

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

1985 • 162 citations

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease.

1987 • 148 citations

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

1988 • 144 citations

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.

1988 • 143 citations

Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

1987 • 127 citations

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

1988 • 115 citations

Polymerase Chain Reaction

2016 • 107 citations

Different Mutations in Ashkenazi Jewish and Non-Jewish French Canadians with Tay-Sachs Disease

1986 • 105 citations

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

1986 • 88 citations

A splicing defect due to an exon-intron junctional mutation results in abnormal β-hexosaminidase α chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

1988 • 85 citations

Mutation in GM2‐Gangliosidosis B1 Variant

1988 • 82 citations

Absence of Hexosaminidase a and B in a Normal Adult

1975 • 67 citations

Genomic amplification with transcript sequencing

1988 • 57 citations

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.

1988 • 49 citations

A Point Mutation in the Coding Sequence of the β‐Hexosaminidase α Gene Results in Defective Processing of the Enzyme Protein in an Unusual GM2‐Gangliosidosis Variant

1988 • 47 citations

Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts.

1976 • 30 citations

Chronic hexosaminidase A and B deficiency

1977 • 29 citations

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris".

1977 • 29 citations