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. It also revealed permanent molecular processes caused by smoking, which in turn identified new therapeutic targets and biomarkers for treating smoking-related lung diseases.


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

Demonstrate the potential of lung eQTLs to leverage the results of previous GWAS by identifying the most likely causal genes for COPD on chromosomes 4q31, 4q22, and 19q13 as well as the most likely causal genes for lung cancer on chromosomes 15q25 and 6p21.

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



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 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



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