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Heather MacDonald

Researcher at Carleton University

Publications -  72
Citations -  3495

Heather MacDonald is an academic researcher from Carleton University. The author has contributed to research in topics: Medicine & Telerehabilitation. The author has an hindex of 27, co-authored 64 publications receiving 2529 citations. Previous affiliations of Heather MacDonald include St. Michael's GAA, Sligo & St. Michael's Hospital.

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

TL;DR: WGS as a primary clinical test provided a higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort and confirmed recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.
Journal ArticleDOI

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

TL;DR: Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis.
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The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse

TL;DR: It is reported that the human necdin-encoding gene (NDN) is within the centromeric portion of the PWS deletion region, between the two imprinted genes ZNF127 and SNRPN, and demonstrated that expression of Ndn is limited to the paternal allele in RNA from newborn mouse brain.