R
Robert Williamson
Researcher at University of Melbourne
Publications - 126
Citations - 6938
Robert Williamson is an academic researcher from University of Melbourne. The author has contributed to research in topics: Gene & Population. The author has an hindex of 44, co-authored 125 publications receiving 6663 citations. Previous affiliations of Robert Williamson include Florey Institute of Neuroscience and Mental Health & Royal Children's Hospital.
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Friedreich ataxia: an overview
TL;DR: There is mounting evidence to suggest that Friedreich ataxia is the result of accumulation of iron in mitochondria leading to excess production of free radicals, which then results in cellular damage and death.
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Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome
Dawn Waterworth,Simon T. Bennett,Neda Gharani,Mark I. McCarthy,Stephen Hague,Sari Batty,Gerard S. Conway,Davinia White,John A. Todd,Stephen Franks,Robert Williamson +10 more
TL;DR: Mapping of susceptibility to PCOS to the INS VNTR implies that PCOS is due, in part, to an inherited alteration in insulin production, which suggests a mechanistic link between type 2 diabetes and PCOS, which is a risk factor for diabetes later in life.
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Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.
TL;DR: Used in conjunction with embryo biopsy, diagnostic CGH should allow the exclusion of a proportion of embryos that appear normal but that have a poor probability of survival and, therefore, may improve the implantation rate after in vitro fertilization.
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The genetic basis of polycystic ovary syndrome.
Stephen Franks,Neda Gharani,Dawn Waterworth,Sari Batty,Davinia White,Robert Williamson,Mark I. McCarthy +6 more
TL;DR: The results of recent studies support the concept of an oligogenic disorder in which genes affecting metabolic pathways in glucose homeostasis and steroid biosynthesis are both involved and support the proposed interaction of a small number of key genes with environmental, particularly nutritional, factors.
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Evidence that a locus for familial psoriasis maps to chromosome 4q
Deborah A. Matthews,Lionel Fry,A.V. Powles,James L. Weber,Mark I. McCarthy,Elizabeth M. C. Fisher,Kay E. Davies,Robert Williamson +7 more
TL;DR: A genome-wide scan to search for psoriasis susceptibility loci in a single large multiplex family indicated that a susceptibility locus for familial Psoriasis was located on chromosome 4q, and investigation of this locus in five further multiplex families gave significant localisation to chromosome 4Q.