Gabrielle T Lemire

11PUBLICATIONS
44CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Free radical chemistryGene mappingCell and nuclear divisionAerospace materials
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Publications (11)

|Jan 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies.

Maggie T Arriaga, Rodrigo Mendez, Rachel A Ungar

|Nov 19, 2024
A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Giulia F Del Gobbo, Xueqi Wang, Stella K MacDonald

|Sep 04, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

Shloka Negi, Sarah L Stenton, Seth I Berger

|Dec 05, 2023
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

Aren E Marshall, Gabrielle Lemire, Yijing Liang

|Oct 05, 2023
Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia.

Grace Uwaila Ediae, Caitlin Chisholm, Gabrielle Lemire

|Nov 04, 2022
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.

Grace Uwaila Ediae, Gabrielle Lemire, Caitlin Chisholm

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Frequent Collaborators

7 joint publications

Kym M Boycott

2 joint publications

Grace Uwaila Ediae

2 joint publications

Anne O'Donnell-Luria

1 joint publications

Friedhelm Hildebrandt