Genetic and clinical features of patients with Gaucher disease in Hungary

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Complex Mutations, Genetics, Genetic Epidemiology +20

Statistical features of human exons and their flanking regions

Michael Zhang · Human Molecular Genetics · 1998 · 444 citations

Kin Recognition, Genetics, Molecular Biology +20

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 430 citations

Biosynthesis, Cellular Enzymology, Medicine +7

Hematologically important mutations: Gaucher disease

Ernest Beutler, Terri Gelbart, C. Ronald Scott · Blood Cells Molecules and Diseases · 2005 · 244 citations

Mendelian Disorder, Gaucher Disease, Genetic Disorder +5

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

Ernest Beutler, Terri Gelbart, W Kühl et al. · Proceedings of the National Academy of Sciences · 1991 · 138 citations · Full text

Genetic Testing, Genetics, Genetic Epidemiology +23