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.


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