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Jeffrey Thomas

Researcher at Millennium Pharmaceuticals

Publications -  11
Citations -  7459

Jeffrey Thomas is an academic researcher from Millennium Pharmaceuticals. The author has contributed to research in topics: Gene & Chromosome 4. The author has an hindex of 7, co-authored 9 publications receiving 5829 citations.

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The Genotype-Tissue Expression (GTEx) project

John T. Lonsdale, +129 more
- 29 May 2013 - 
TL;DR: The Genotype-Tissue Expression (GTEx) project is described, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
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Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect.

TL;DR: It is suggested that mutations at the MODY3/NIDDM2 gene(s) result in a reduced insulin secretory response, that subsequently progresses to diabetes and underlines the importance of subphenotypic classification in studies of diabetes.
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A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population

TL;DR: Credence is lent to the hypothesis, now supported by four studies of Caucasian populations and most recently by a combined analysis of 1,852 pedigrees, that a type 2 diabetes susceptibility locus resides on chromosome 20q in Ashkenazi Jewish descent.
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Novel mutations and a mutational hotspot in the MODY3 gene.

TL;DR: Mutations in this gene appear to be most strongly associated with early-onset diabetes, and it is proposed that instability of this sequence represents a general mutational mechanism in M0DY3.