Publications

2017

2016

S. Troyanov, C. Delmas-Frenette, G. Bollee, S. Youhanna, V. Bruat, P. Awadalla, O. Devuyst and F. Madore, Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion, Clin J Am Soc Nephrol 11(1): 62-69

Hodgkinson A, Grenier JC, Gbeha E, Awadalla P. A, Haplotype-based normalization technique for the analysis and detection of allele specific expression, BMC Bioinformatics 17(1): 364

N. D. Merner, A. Mercado, A. R. Khanna, A. Hodgkinson, V. Bruat, P. Awadalla, G. Gamba, G. A. Rouleau and K. T. Kahle, Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia, J Psychiatr Res 77: 22-26

R. Goupil, D. Dupuis, S. Troyanov, F. Madore and M. Agharazii, Heart rate dependent and independent effects of beta-blockers on central hemodynamic parameters: a propensity score analysis, J Hypertens 34(8): 1535-1543

R. Goupil, D. Dupuis, M. Agharazii, P. Hamet, S. Troyanov and F. Madore, Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE, Nephrol Dial Transplant

S. S. Anand, J. V. Tu, P. Awadalla, S. Black, C. Boileau, D. Busseuil, D. Desai, J. P. Despres, R. J. de Souza, T. Dummer, S. Jacquemont, B. Knoppers, E. Larose, S. A. Lear, F. Marcotte, A. R. Moody, L. Parker, P. Poirier, P. J. Robson, E. E. Smith, J. J., Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study, BMC Public Health 16: 650

2015

J. G. Hussin, A. Hodgkinson, Y. Idaghdour, J. C. Grenier, J. P. Goulet, E. Gbeha, E. Hip-Ki and P. Awadalla, Recombination affects accumulation of damaging and disease-associated mutations in human populations, Nat Genet 47(4): 400-404

R. El-Bikai, M. R. Tahir, J. Tremblay, M. Joffres, O. Seda, L. Sedova, P. Awadalla, C. Laberge, B. M. Knoppers, P. Dumas, D. Gaudet, L. G. Ste-Marie and P. Hamet, Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals, J Hypertens 33(4): 727-735

C. S. Moura, S. S. Daskalopoulou, L. E. Levesque, S. Bernatsky, M. Abrahamowicz, M. A. Tsadok, S. Rajabi and L. Pilote, Comparison of the Effect of Thiazide Diuretics and Other Antihypertensive Drugs on Central Blood Pressure: Cross-Sectional Analysis Among Nondiabetic Patients, J Clin Hypertens (Greenwich) 17(11): 848-854

2014

K. T. Kahle, N. D. Merner, P. Friedel, L. Silayeva, B. Liang, A. Khanna, Y. Shang, P. Lachance-Touchette, C. Bourassa, A. Levert, P. A. Dion, B. Walcott, D. Spiegelman, A. Dionne-Laporte, A. Hodgkinson, P. Awadalla, H. Nikbakht, J. Majewski, P. Cossette, Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy, EMBO Rep 15(7): 766-774

J. C. Verhave, S. Troyanov, F. Mongeau, L. Fradette, J. Bouchard, P. Awadalla and F. Madore, Prevalence, awareness, and management of CKD and cardiovascular risk factors in publicly funded health care, Clin J Am Soc Nephrol 9(4): 713-719

A. Hodgkinson, Y. Idaghdour, E. Gbeha, J. C. Grenier, E. Hip-Ki, V. Bruat, J. P. Goulet, T. de Malliard and P. Awadalla, High-resolution genomic analysis of human mitochondrial RNA sequence variation, Science 344(6182): 413-415

2013

P. Awadalla, C. Boileau, Y. Payette, Y. Idaghdour, J. P. Goulet, B. Knoppers, P. Hamet, C. Laberge and C. A. Project, Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics, Int J Epidemiol 42(5): 1285-1299

2011

S. Fortin, S. Pathmasiri, R. Grintuch and M. Deschenes, Access arrangements' for biobanks: a fine line between facilitating and hindering collaboration, Public Health Genomics 14(2): 104-114

2007

2006

Y. Joly and B. M. Knoppers, Pharmacogenomic data sample collection and storage: ethical issues and policy approaches, Pharmacogenomics 7(2): 219-226

2004

B. Godard, J. Marshall, C. Laberge and B. M. Knoppers, Strategies for consulting with the community: the cases of four large-scale genetic databases, Sci Eng Ethics 10(3): 457-477

Projects

2016

Deciphering the Genetic background of Restless Legs Syndrome Principal Investigator: Guy Rouleau

Affiliation: Institut neurologique de Montréal, Université McGill

Genomic follow-up of the susceptibility loci for schizophrenia and bipolar disorder in multi-affected families of Eastern Quebec Principal Investigator: Michel Maziade

Affiliation: Université Laval

Poor sleep and mental health: independent or overlapping risk factors for heart diseases? Principal Investigator: Norbert Schmitz

Affiliation: Institut de santé mentale Douglas, Université McGill

Genomic Analysis of the Mitochondrial Transcriptome Principal Investigator: Alan Hogkinson

Affiliation: King's College London

2015

Simultaneous systematic monitoring of hormonal pathways in bipolar disorder using LC-based targeted and untargeted metabolomics Principal Investigator: Dajana Vuckovic

Affiliation: Université Concordia

Clinical implementation and Outcomes Evaluation of Blood-Based biomarkers for COPD management Principal Investigator: Elizabeth MacNamara

Affiliation: Hôpital général juif

Identification of genes involved in adolescent idiopathic Scoliosis Principal Investigator: Alain Moreau

Affiliation: CHU Sainte-Justine

2014

Human Growth Hormone Receptor: regulation of expression during development Principal Investigator: Cynthia Goodyer

Affiliation: Université McGill

Génétique de la Rhinosinusite chronique avec polypose nasale Principal Investigator: Martin Desrosiers

Affiliation: CHUM

Conséquences médicales de l’intégration chromosomique de l’herpès virus humain 6 Principal Investigator: Louis Flamand

Affiliation: Université Laval

The genome-wide association study of the principal components of the metabolic syndrome enriched with albumin/creatinine ratio regarding the OPTI-THERA research project Principal Investigator: Pavel Hamet

Affiliation: CHUM

The association between type II diabetes and physical activity in the Canadian Partnership for Tomorrow Project Principal Investigator: Zhijie (Michael) Yu

Affiliation: Dalhousie University

Exploring the potential of CARTaGENE databanks for GIS-based epidemiology: a pilot study Principal Investigator: Philip Awadalla

Affiliation: CHU Sainte-Justine, Université de Montréal

Vegetarian diet, the metabolic syndrome, obesity and inflammatory status Principal Investigator: Isabel Fortier

Affiliation: Maelstrom, Université McGill

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Evaluation of coronary vascular disease among high cardiovascular risk patients in CARTaGENE Principal Investigator: Robert Sanchez

Affiliation: Regeneron

Canadian Alliance for Healthy Hearts and Minds – Development of community health and health services profiles Principal Investigator: Jack Tu

Affiliation: Sunnybrook Health Sciences Centre

2013

Molecular dissection of congenital heart disease in the French Canadian population Principal Investigator: Gregor Andelfinger

Affiliation: CHU Ste-Justine

Étude bien-être émotionnel, facteurs métaboliques et l’état de santé Principal Investigator: Norbert Schmitz

Affiliation: Institut de santé mentale Douglas, Université McGill

Prévalence de l’insuffisance rénale chronique dans la cohorte CARTaGENE (2) Principal Investigator: François Madore

Affiliation: Hôpital Sacré-Coeur

Plateforme d’Innovation en Génomique des Scolioses Pédiatriques (GSP) : Des Gènes aux Tests - Diagnostiques Complets Principal Investigator: Alain Moreau

Affiliation: CHU Ste-Justine

2012

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Analyse des caractéristiques généalogiques des participants au projet CARTaGENE Principal Investigator: Marc Tremblay

Affiliation: Université du Québec à Chicoutimi

Environment, Epigenetics, and Rheumatic Disease Principal Investigator: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Conséquences médicales de l’intégration chromosomique de l’herpès virus humain 6 Principal Investigator: Louis Flamand

Affiliation: Université Laval

Test de l’accumulation de mutations délétères lors d’expansions spatiales par séquençage d’exomes Principal Investigator: Laurent Excoffier

Affiliation: Université de Berne, Suisse

2011

Développement d’une plateforme pour le diagnostic moléculaire du syndrome de Zellweger au Québec Principal Investigator: Luigi Bouchard

Affiliation: Université de Sherbrooke

Caractérisation des contributions génomiques et environnementales à la variation des phénotypes cardiovasculaires et métaboliques dans la population du Québec Principal Investigator: Philip Awadalla

Affiliation: CHU Sainte-Justine, Université de Montréal

2010

Hypertension, ostéoporose et vieillissement accéléré Principal Investigator: Pavel Hamet

Affiliation: CHUM

Prévalence de l’insuffisance rénale chronique dans la cohorte CARTaGENE (1) Principal Investigator: François Madore

Affiliation: Hôpital Sacré-Coeur

2009

Methylmercury exposure and urinary metabolic profile in Cree people from Northern Quebec Principal Investigator: Pierre Ayotte

Affiliation: Centre de recherche du CHUQ, Université Laval