J
Joan H.M. Knoll
Researcher at University of Western Ontario
Publications - 48
Citations - 935
Joan H.M. Knoll is an academic researcher from University of Western Ontario. The author has contributed to research in topics: Fluorescence in situ hybridization & Biodosimetry. The author has an hindex of 18, co-authored 48 publications receiving 780 citations. Previous affiliations of Joan H.M. Knoll include London Health Sciences Centre.
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Journal ArticleDOI
Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels
Jennifer Kerkhof,Laila C. Schenkel,Jack Reilly,Sheri McRobbie,Erfan Aref-Eshghi,Alan Graham Stuart,C. Anthony Rupar,C. Anthony Rupar,Paul C. Adams,Robert A. Hegele,Hanxin Lin,Hanxin Lin,David I. Rodenhiser,Joan H.M. Knoll,Joan H.M. Knoll,Peter Ainsworth,Peter Ainsworth,Bekim Sadikovic,Bekim Sadikovic +18 more
TL;DR: This NGS CNV pipeline enables stand-alone first-tier assessment for CNV and sequence variants in a clinical laboratory setting, dispensing with the need for parallel CNV analysis using classic techniques, such as microarray, long-range PCR, or multiplex ligation-dependent probe amplification.
Journal ArticleDOI
Genomic signatures for paclitaxel and gemcitabine resistance in breast cancer derived by machine learning
Stephanie N. Dorman,Katherina Baranova,Joan H.M. Knoll,Joan H.M. Knoll,Brad L. Urquhart,Gabriella Mariani,Maria Luisa Carcangiu,Peter K. Rogan +7 more
TL;DR: Investigation of correspondence between growth inhibitory concentrations of paclitaxel and gemcitabine and gene copy number, mutation, and expression first in breast cancer cell lines and then in patients found patterns related to changes in the genomic profile of tumors.
Journal ArticleDOI
Sequence-Based Design of Single-Copy Genomic DNA Probes for Fluorescence In Situ Hybridization
TL;DR: Small, targeted, single-copy FISH probes directly from the human genome sequence are developed for three chromosomal regions-the CDC2L1, MAGEL2, and HIRA genes-and show their utility for FISH.
Journal ArticleDOI
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Laila C. Schenkel,Jennifer Kerkhof,Alan Graham Stuart,Jack Reilly,Barry Eng,Crystal Woodside,Alexander Levstik,Christopher J. Howlett,Anthony Rupar,Anthony Rupar,Joan H.M. Knoll,Joan H.M. Knoll,Peter Ainsworth,Peter Ainsworth,John S. Waye,Bekim Sadikovic,Bekim Sadikovic +16 more
TL;DR: A standardized NGS pipeline designed to replace Sanger sequencing and multiplex ligation-dependent probe amplification analysis and to facilitate detection of sequence and copy number alterations in a single test focusing on a BRCA1/BRCA2 gene analysis panel is clinically validated.
Journal Article
Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.
TL;DR: Within the sample population of patients with biparental inheritance, those with altered methylation and presumably imprinting center mutations could not be distinguished from those with no currently detectable mutation.