Publications

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

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

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

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

Projets

2016

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

Affiliation: Université Laval

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

Affiliation: Institut de santé mentale Douglas, Université McGill

Genomic Analysis of the Mitochondrial Transcriptome Chercheur principal: Alan Hogkinson

Affiliation: King's College London

Deciphering the Genetic background of Restless Legs Syndrome Chercheur principal: Guy Rouleau

Affiliation: Institut neurologique de Montréal, Université McGill

2015

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

Affiliation: Hôpital général juif

Identification of genes involved in adolescent idiopathic Scoliosis Chercheur principal: Alain Moreau

Affiliation: CHU Sainte-Justine

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

Affiliation: Université Concordia

2014

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

Affiliation: CHUM

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

Affiliation: Dalhousie University

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

Affiliation: CHU Sainte-Justine, Université de Montréal

Vegetarian diet, the metabolic syndrome, obesity and inflammatory status Chercheur principal: Isabel Fortier

Affiliation: Maelstrom, Université McGill

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Chercheur principal: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Evaluation of coronary vascular disease among high cardiovascular risk patients in CARTaGENE Chercheur principal: Robert Sanchez

Affiliation: Regeneron

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

Affiliation: Sunnybrook Health Sciences Centre

Human Growth Hormone Receptor: regulation of expression during development Chercheur principal: Cynthia Goodyer

Affiliation: Université McGill

Génétique de la Rhinosinusite chronique avec polypose nasale Chercheur principal: Martin Desrosiers

Affiliation: CHUM

Conséquences médicales de l’intégration chromosomique de l’herpès virus humain 6 Chercheur principal: Louis Flamand

Affiliation: Université Laval

2013

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

Affiliation: Hôpital Sacré-Coeur

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

Affiliation: CHU Ste-Justine

Molecular dissection of congenital heart disease in the French Canadian population Chercheur principal: Gregor Andelfinger

Affiliation: CHU Ste-Justine

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

Affiliation: Institut de santé mentale Douglas, Université McGill

2012

Analyse des caractéristiques généalogiques des participants au projet CARTaGENE Chercheur principal: Marc Tremblay

Affiliation: Université du Québec à Chicoutimi

Environment, Epigenetics, and Rheumatic Disease Chercheur principal: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

Conséquences médicales de l’intégration chromosomique de l’herpès virus humain 6 Chercheur principal: Louis Flamand

Affiliation: Université Laval

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

Affiliation: Université de Berne, Suisse

Comparative Effectiveness Research in the Canadian Partnership for Tomorrow Cohort Chercheur principal: Sasha Bernatsky

Affiliation: Centre de santé de l’Université McGill

2011

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

Affiliation: CHU Sainte-Justine, Université de Montréal

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

Affiliation: Université de Sherbrooke

2010

Hypertension, ostéoporose et vieillissement accéléré Chercheur principal: Pavel Hamet

Affiliation: CHUM

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

Affiliation: Hôpital Sacré-Coeur

2009

Methylmercury exposure and urinary metabolic profile in Cree people from Northern Quebec Chercheur principal: Pierre Ayotte

Affiliation: Centre de recherche du CHUQ, Université Laval