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Sherryl A. M. Taylor

Researcher at Queen's University

Publications -  20
Citations -  630

Sherryl A. M. Taylor is an academic researcher from Queen's University. The author has contributed to research in topics: Mutation (genetic algorithm) & Factor IX. The author has an hindex of 12, co-authored 20 publications receiving 608 citations.

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Paternal transmission of fragile X syndrome.

TL;DR: A family in which a fragile X mosaic male has a daughter with both premutation and partially methylated full mutation alleles and a significant developmental disability is presented, the first report of such an occurrence and it challenges current thinking about the expansion and transmission of unstable FMR1 alleles from men to their daughters.
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Mutation of RET codon 768 is associated with the FMTC phenotype

TL;DR: It is suggested that the codon 768 mutation does not predispose to adrenal medullary hyperplasia, but is an accurate predictor of the MTC phenotype in this family.
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Genetic basis of familial Meniere's disease.

TL;DR: This report demonstrates the presence of anticipation in successive generations and the absence of HLA association in familial Meniere's disease and suggests that efforts should be directed toward finding a trinucleotide expansion as a possible genetic lesion in this uncommon disorder.
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A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

TL;DR: It is concluded that these patients have a common ancestor despite the lack of overlapping pedigrees, as 11 patients are of Western European descent and have the same haplotype.