Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1

Identification of the homologous beige and Chediak–Higashi syndrome genes

Maria D.F.S. Barbosa, Quan A. Nguyen, Velizar T. Tchernev et al. · Nature · 1996 · 546 citations · Full text

Genetic Disorder, Medicine, Genetics +6

Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

Deborah L. Nagle, Mohammad A. Karim, Elizabeth A. Woolf et al. · Nature Genetics · 1996 · 534 citations

Complete Gene, Mendelian Disorder, Genetic Disorder +10

Rapid detection of BRCA1 mutations by the protein truncation test

Frans B.L. Hogervorst, Renée S. Cornelis, Mattie Bout et al. · Nature Genetics · 1995 · 314 citations · Full text

Somatic Variant, Protein Truncation Test, Medicine +8

The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein

Charles M. Perou, Jonathan D. Leslie, Wayne Green et al. · Journal of Biological Chemistry · 1997 · 135 citations · Full text

Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse

Maria D.F.S. Barbosa · Human Molecular Genetics · 1997 · 101 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +11