Gabrielle Bertier
Overview
Explore the profile of Gabrielle Bertier including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
14
Citations
1279
Followers
0
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Recent Articles
1.
Pearson N, Stolte C, Shi K, Beren F, Abul-Husn N, Bertier G, et al.
Genet Med
. 2021 Jun;
23(10):1998-2002.
PMID: 34113009
Purpose: Making a diagnosis from clinical genomic sequencing requires well-structured phenotypic data to guide genotype interpretation. A patient's phenotypic features can be documented using the Human Phenotype Ontology (HPO), generating...
2.
Odgis J, Gallagher K, Suckiel S, Donohue K, Ramos M, Kelly N, et al.
Trials
. 2021 Feb;
22(1):146.
PMID: 33593377
No abstract available.
3.
Suckiel S, Odgis J, Gallagher K, Rodriguez J, Watnick D, Bertier G, et al.
Genet Med
. 2021 Feb;
23(5):942-949.
PMID: 33531665
Purpose: Use of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application,...
4.
Odgis J, Gallagher K, Suckiel S, Donohue K, Ramos M, Kelly N, et al.
Trials
. 2021 Jan;
22(1):56.
PMID: 33446240
Background: Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented...
5.
Bertier G, Joly Y
Life Sci Soc Policy
. 2018 Aug;
14(1):17.
PMID: 30066179
Background: The decreasing cost of next-generation sequencing technologies (NGS) has resulted in their increased use in research, and in the clinic. However, France and Quebec have not yet implemented nation-wide...
6.
Senecal K, Vears D, Bertier G, Knoppers B, Borry P
Per Med
. 2018 May;
12(5):439-441.
PMID: 29749887
No abstract available.
7.
Bertier G, Cambon-Thomsen A, Joly Y
Eur J Med Genet
. 2018 Apr;
61(10):634-641.
PMID: 29704685
As next-generation sequencing technologies (NGS) are increasingly used in the clinic, one issue often pointed out in the literature is the fact that their implementation "blurs the line" between research...
8.
Bertier G, Senecal K, Borry P, Vears D
Crit Rev Clin Lab Sci
. 2017 Jan;
54(2):134-142.
PMID: 28132577
Whole-exome sequencing (WES) has been instrumental in the discovery of novel genes and mechanisms causing Mendelian diseases. While this technology is now being successfully applied in a number of clinics,...
9.
Murdoch B, Ravitsky V, Ogbogu U, Ali-Khan S, Bertier G, Birko S, et al.
J Obstet Gynaecol Can
. 2017 Jan;
39(1):10-17.
PMID: 28062017
Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However,...
10.
Bertier G, Carrot-Zhang J, Ragoussis V, Joly Y
Genome Med
. 2016 Oct;
8(1):108.
PMID: 27776531
Precision medicine (PM) can be defined as a predictive, preventive, personalized, and participatory healthcare service delivery model. Recent developments in molecular biology and information technology make PM a reality today...