Wendy P. Robinson
University of British Columbia
253 Papers
2.3K Citations
Wendy P. Robinson is an academic researcher from University of British Columbia. The author has contributed to research in topics: DNA methylation & Biology. The author has an hindex of 61, co-authored 244 publications. Previous affiliations of Wendy P. Robinson include The Centre for Applied Genomics & University of Zurich.
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Papers
Toll-like receptor 4 polymorphisms and idiopathic chromosomally normal miscarriage.
TL;DR: There was no association between fetal TLR4 polymorphisms, Asp299Gly and Thr399Ile, known to blunt LPS responsiveness, and the risk of idiopathic, chromosomally normal miscarriage.
The association of skewed X chromosome inactivation with aneuploidy in humans
TL;DR: Limitations of the commonly used assays of XCI, which use measurements of DNA methylation to infer skewing patterns, are discussed, and the data based on current knowledge of the causes ofXCI skewing are reviewed.
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Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting.
Albert Schinzel,Isabel Lorda-Sanchez,Franz Binkert,Nigel P. Carter,C E Bebb,Malcolm A. Ferguson-Smith,Urs Eiholzer,Milo Zachmann,Wendy P. Robinson +8 more
TL;DR: The distal long arm of chromosome 1 may contain a candidate locus for a gene, mutations of which may cause the Kallmann phenotype; a 10q location seems less likely than a der(1), t(1;10) (q44;q26) translocation.
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Functional consequences of copy number variants in miscarriage
Jiadi Wen,Jiadi Wen,Courtney W. Hanna,Courtney W. Hanna,Sally Martell,Peter C.K. Leung,Peter C.K. Leung,Suzanne M E Lewis,Wendy P. Robinson,Wendy P. Robinson,Mary D. Stephenson,Evica Rajcan-Separovic,Evica Rajcan-Separovic +12 more
TL;DR: Functional studies of CNVs could help determine if and how the miscarriage CNVs affect the expression of integral genes, especially if they affect processes relevant for pregnancy development and support.
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
Kenjiro Kosaki,Rika Kosaki,Wendy P. Robinson,William J. Craigen,Lisa G. Shaffer,Seiji Sato,Nobutake Matsuo +6 more
TL;DR: A novel assay to diagnose UPD(7)mat is presented by analysing the methylation status of PEG1/MEST, the only known imprinted gene on chromosome 7,8 which encodes a protein with sequence homology to alpha/ beta-hydrolase.
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