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Robert Williamson

Publications by Year

Research Areas

Fire dynamics and safety research, Hemoglobinopathies and Related Disorders, Cystic Fibrosis Research Advances, Genetic Neurodegenerative Diseases, RNA and protein synthesis mechanisms

Most-Cited Works

→ Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease(1991)4,633 cited
→ A Mutation in the Interferon-γ –Receptor Gene and Susceptibility to Mycobacterial Infection(1996)1,176 cited
→ Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis(1995)707 cited
→ Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy(1992)678 cited
→ Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy(1992)614 cited
→ Localization of cystic fibrosis locus to human chromosome 7cen–q22(1985)487 cited

→ Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17(1994)

466 cited

→ A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands(1987)335 cited

→ Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy(1994)323 cited

→ Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome(1997)320 cited