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Laboratory of Yohan Bossé 

  "Solid track record of discoveries published in peer-review publications."

The main vehicles to inform research users about studies, research resources, and discoveries from Dr. Bossé’s laboratory are peer-reviewed articles and conference presentations at local, national and international meetings. Since the establishment of the laboratory in 2007, Dr. Bossé and team members have published more than 200 peer-reviewed articles. Some of the most promising discoveries are also protected through patents in order to translate scientific discoveries into marketable applications or products.


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Some of the most significant contributions are described below.
A more comprehensive list of publications can be found in PubMed.
Discover the second monogenic form of emphysema.


Bossé Y et al. Early-onset emphysema in a large French-Canadian family: a genetic investigation. The Lancet Respiratory Medicine 2019; 7(5):427-436. PMID: 31000475

Elucidate the molecular signature of smoking in human lung tissues. This study provides a comprehensive molecular understanding of smoking and smoking cessation in human lung tissues.


Bossé Y et al. Molecular signature of smoking in human lung tissues. Cancer Research 2012; 72(15):3753-63. PMID: 22659451

Complete a large-scale multi-center lung eQTL mapping study.


Hao K, Bossé Y, Nickle D et al. Lung eQTLs to help reveal the molecular underpinnings of asthma. PLoS Genetics 2012; 8(11):e1003029. PMID: 23209423

Harness lung eQTLs and transcriptome-wide association studies (TWAS) to leverage the results of previous GWAS by identifying the most likely causal genes for lung cancer, COPD and asthma.

Lamontagne M et al. Refining susceptibility loci of chronic obstructive pulmonary disease with lung eQTLs. PLoS ONE 2013: 8(7): e70220. PMID: 23936167

Nguyen JD et al. Y. Susceptibility loci for lung cancer are associated with mRNA levels of nearby genes in the lung. Carcinogenesis 2014; 35(12):2653-9. PMID: 25187487


Lamontagne M et al. Leveraging lung tissue transcriptome to uncover candidate causal genes in COPD genetic associations. Human Molecular Genetics 2018; 27(10):1819-1829. PMID: 29547942

Bossé Y et al. Transcriptome-wide association study reveals candidate causal genes for lung cancer. International Journal of Cancer 2020; 146(7):1862-1878. PMID: 31696517

Valette K et al. Prioritization of candidate causal genes for asthma in susceptibility loci derived from UK Biobank. Communications Biology 2021;4(1):700. PMID: 34103634

Genetics and diagnosis of alpha-1 antitrypsin deficiency

Maltais F et al. Clinical experience with SERPINA1 DNA sequencing to detect alpha-1 antitrypsin deficiency. Annals of the American Thoracic Society 2018; 15(2): 266-268. PMID: 29182883

Gupta N et al. Granularity of SERPINA1 alleles by DNA sequencing in CanCOLD. European Respiratory Journal 2020; 56(4):2000958. PMID: 32482783

Bellemare J et al. The clinical utility of determining the allelic background of mutations causing alpha-1 antitrypsin deficiency: The case with the null variant Q0(Mattawa)/Q0(ourém). Journal of the Chronic Obstructive Pulmonary Diseases Foundation 2021; 8(1). PMID: 33150777

Identify genes conferring susceptibility to calcific aortic valve stenosis.


Gaudreault N et al. Replication of genetic association studies in aortic stenosis in adults. The American Journal of Cardiology 2011; 108(9):1305-10. PMID: 21855833


Ducharme V et al. NOTCH1 genetic variants in patients with tricuspid calcific aortic valve stenosis. The Journal of Heart Valve Disease 2013; 22:142-9. PMID: 23798201


Guauque-Olarte S et al. Calcium signaling pathway genes RUNX2 and CACNA1C are associated with calcific aortic valve disease. Circulation Cardiovascular Genetics 2015; 8(6):812-22. PMID: 26553695

Thériault S et al. A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis. Nature Communications 2018; 9(1):988. PMID: 29511167


Thériault S et al. Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis. Circulation: Genomic and Precision Medicine 2019; 12(10):e002617. PMID: 32141789

Generate the first large-scale quantitative measurement of gene expression in normal and stenotic human valves.


Bossé Y et al. Refining molecular pathways leading to calcific aortic valve stenosis by studying gene expression profile of normal and calcified stenotic human aortic valves. Circulation: Cardiovascular Genetics 2009; 2:489-98. PMID: 20031625

Guauque-Olarte S et al. RNA expression profile of calcified bicuspid, tricuspid and normal human aortic

valves by RNA sequencing. Physiological Genomics 2016; 48(10): 749-61. PMID: 27495158

Identify susceptibility genes for bicuspid aortic valve.


Dargis N et al. Identification of gender-specific genetic variants in patients with bicuspid aortic valve. The American Journal of Cardiology 2016; 117(3):420-6. PMID: 26708639

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