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Janet A. Buchanan

Researcher at The Centre for Applied Genomics

Publications -  21
Citations -  5640

Janet A. Buchanan is an academic researcher from The Centre for Applied Genomics. The author has contributed to research in topics: Copy-number variation & Genome. The author has an hindex of 15, co-authored 21 publications receiving 5216 citations. Previous affiliations of Janet A. Buchanan include University of Toronto.

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Identification of the cystic fibrosis gene: genetic analysis.

TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Ryan K. C. Yuen, +89 more
- 06 Mar 2017 - 
TL;DR: Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
Journal Article

Mutations of the p53 gene do not occur in testis cancer.

TL;DR: It is concluded that dysfunction of tumor suppressor gene or genes other than p53 may prove to play an important role in the development of germ cell cancers of the testis.