Gabrielle Lemire
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Explore the profile of Gabrielle Lemire including associated specialties, affiliations and a list of published articles.
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304
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Recent Articles
1.
Lemire G, Laliberte T, Turcot K, Flamand V, Campeau-Lecours A
Front Rehabil Sci
. 2025 Feb;
5:1418534.
PMID: 39897945
Individuals with movement disorders often face challenges in writing independently due to factors such as spasticity, lack of precise motor control, muscle weakness, and tremors. This paper aims to develop...
2.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi S, Stenton S, Berger S, Canigiula P, McNulty B, Violich I, et al.
Am J Hum Genet
. 2025 Jan;
112(2):428-449.
PMID: 39862869
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing...
3.
Arriaga M, Mendez R, Ungar R, Bonner D, Matalon D, Lemire G, et al.
medRxiv
. 2025 Jan;
PMID: 39802771
RNA-sequencing has improved the diagnostic yield of individuals with rare diseases. Current analyses predominantly focus on identifying outliers in single genes that can be attributed to cis-acting variants within the...
4.
Carapito R, Molitor A, Pavinato L, Skeyni A, Lambert M, Pichot A, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39738822
RICTOR is a key component of the mTORC2 signaling complex which is involved in the regulation of cell growth, proliferation and survival. RICTOR is highly expressed in neurons and is...
5.
Broeren E, Gitau V, Byrne A, Ajuyah P, Balzotti M, Berg J, et al.
medRxiv
. 2024 Nov;
PMID: 39606380
Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to...
6.
Del Gobbo G, Wang X, MacDonald S, Liang Y, McMillan H, Lemire G, et al.
Am J Med Genet A
. 2024 Nov;
197(4):e63944.
PMID: 39559931
No abstract available.
7.
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi S, Stenton S, Berger S, McNulty B, Violich I, Gardner J, et al.
medRxiv
. 2024 Sep;
PMID: 39228712
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole genome analysis by short read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap...
8.
Jurgens J, Barry B, Chan W, MacKinnon S, Whitman M, Matos Ruiz P, et al.
Genet Med
. 2024 Jul;
27(4):101216.
PMID: 39033378
Purpose: This study aimed to identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods: We coupled phenotyping with exome or genome sequencing of 467...
9.
Chen Y, Dawes R, Kim H, Ljungdahl A, Stenton S, Walker S, et al.
Nature
. 2024 Jul;
632(8026):832-840.
PMID: 38991538
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in...
10.
Wojcik M, Lemire G, Berger E, Zaki M, Wissmann M, Win W, et al.
N Engl J Med
. 2024 Jun;
390(21):1985-1997.
PMID: 38838312
Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains...