Publications

2018

D. Nada, C. Julien, M. E. Samuels, A. Moreau, A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French-Canadian Population, Spine (Phila Pa 1976) 43(3):172-178

T JB Dummer, P Awadalla, C Boileau, C Craig, I Fortier, V Goel, JMT Hicks, S Jacquemont, BM Knoppers, N Le, T McDonald, J McLaughlin, AM Mes-Masson, AM Nuyt, LJ Palmer, L Parker, M Purdue, PJ Robson, JJ Spinelli , D Thompson, J Vena, M Zawati; et al, The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention, CMAJ 190(23):E710-E717

S. Boies, C. Mérette, T. Paccalet, M. Maziade, A. Bureau, Polygenic risk scores distinguish patients from non-affected adult relatives and from normal controls in schizophrenia and bipolar disorder multi-affected kindreds, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177(3):329-336

S. Peischl, I. Dupanloup, A. Foucal, M. Jomphe, V. Bruat, J.-C. Grenier, A. Gouy, K. J. Gilbert, E. Gbeha, L. Bosshard, E. Hip-Ki, M. Agbessi, A. Hodgkinson, H. Vézina, P. Awadalla, L. Excoffier, Relaxed Selection During a Recent Human Expansion, Genetics 208(2):763-777

F. Lamarche, M. Agharazii, A. C. Nadeau-Fredette, F. Madore, R. Goupil, Central and Brachial Blood Pressures, Statins, and Low-Density Lipoprotein Cholesterol: A Mediation Analysis, Hypertension 71(3):415-421

F. Lepeytre, P. L. Lavoie, S. Troyanov, F. Madore, M. Agharazii, R. Goupil, Uric acid association with pulsatile and steady components of central and peripheral blood pressures, Journal of Hypertension 0263-6352

M. J. Favé, F. C. Lamaze, D. Soave, A. Hodgkinson, H. Gauvin, V. Bruat, J.C. Grenier, E. Gbeha, K. Skead, A. Smargiassi, M. Johnson, Y. Idaghdour, P. Awadalla, Gene-by-environment interactions in urban populations modulate risk phenotypes, Nat Commun. 9(1):827

2017

A. Gravel, I. Dubuc, A. Brooks-Wilson, K. J. Aronson, J. Simard, H. A. Velásquez-García, J. J. Spinelli, L. Flamand, Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer, Cancer Epidemiol Biomarkers Prev 26(3):425-427

C. Dias, M. Giordano, R. Frechette, S. Bellone, C. Polychronakos, L. Legault, C. L. Deal, C. G. Goodyer, Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature, J Cell Mol Med 21(11):2985-2999

S. Bernatsky, A. Smargiassi, L. Joseph, P. Awadalla, I. Colmegna, M. Hudson, M.J. Fritzler, Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies, Environ Res 157:60-63

D. A. Knowles, J. R. Davis, H. Edgington, A. Raj, M. J. Favé, X. Zhu, J. B. Potash, M. M. Weissman, J. Shi, D. Levinson, P. Awadalla, S. Mostafavi, S. B. Montgomery, A. Battle, Allele-specific expression reveals interactions between genetic variation and environment, Nature Methods 14(7):699-702

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

A. Hodgkinson, J.-C. Grenier, E. Gbeha, P. Awadalla, 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

SS Deschênes, RJ Burns, E Graham, N Schmitz, Prediabetes, depressive and anxiety symptoms, and risk of type 2 diabetes: A community-based cohort study, J Psychosom Res. 89:85-90

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 32(6):976-983

N Schmitz, SS Deschênes, RJ Burns, KJ Smith, A Lesage, I Strychar, R Rabasa-Lhoret, C Freitas, E Graham, P Awadalla and JL Wang, Depression and risk of type 2 diabetes: the potential role of metabolic factors, Mol Psychiatry 21(12):1726-1732

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, et al., Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study, BMC Public Health 32(6):976-983

K. R. Kukurba, P. Parsana, B. Balliu, K. S. Smith, Z. Zappala, D. A. Knowles, M. J. Favé, J. R. Davis, X. Li, X. Zhu, J. B. Potash, M. M. Weissman, J. Shi, A. Kundaje, D. F. Levinson, P. Awadalla, S. Mostafavi, A. Battle, S. B. Montgomery, Impact of the X Chromosome and sex on regulatory variation, Genome Res. 26(6):768-77

2015

A. Gravel, I. Dubuc, G. Morissette, R.H. Sedlak, K. R. Jerome, L. Flamand, Inherited chromosomally integrated human herpesvirus 6 as a predisposing risk factor for the development of angina pectoris, Proc Natl Acad Sci U S A 112(26):8058-63

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

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

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

D. Doiron, P. Raina, I. Fortier; Linkage Between Cohorts and Health Care Utilization Data: Meeting of Canadian Stakeholders workshop participants, Linking Canadian population health data: maximizing the potential of cohort and administrative data, Canadian Journal of Public Health 104(3): e258–e261

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

2018

Role of Prohibitins and SUMOylation in Osteoarthritis Pathogenesis Principal Investigator: Alain Moreau

Affiliation: Centre Hospitalier Universitaire Sainte-Justine

Étude de prévalence de l'antigène de groupe sanguin D faible type 42 Principal Investigator: Josée Laganière

Affiliation: Héma-Québec

Occupational exposure to endocrine disrupting chemicals and colorectal cancer risk Principal Investigator: Vikki Ho

Affiliation: CRCHUM

Genetic analyses of proposed new ovarian cancer predisposing gene Principal Investigator: Patricia Tonin

Affiliation: McGill University Health Centre

An investigation of gene-environment interaction on eating behaviour and adiposity in a cohort of Quebec adults Principal Investigator: Daiva Nielsen

Affiliation: McGill University

Population genetics of pharmacogenes Principal Investigator: Julie Hussin

Affiliation: Institut de Cardiologie de Montréal Centre de Recherche - Université de Montréal

Phenome-wide AssociatioN studies of cardiometabolic Drug tArgets (PANDA) Principal Investigator: Benoit Arsenault

Affiliation: Institut universitaire de cardiologie et de pneumologie de Québec –Université Laval

Prévalence de variantes dans les gènes NPC1 et NPC2 dans la population québécoise Principal Investigator: Martine Tétreault

Affiliation: Centre hospitalier de l’Université de Montréal - CHUM

2017

The impact of structural genomic variants on cognition in the general population Principal Investigator: Sébastien Jacquemont

Affiliation: CHU Sainte-Justine

Systemic inflammation and the risk of depression in people with type 2 diabetes: a prospective community study Principal Investigator: Norbert Schmitz

Affiliation: Douglas Mental Health University Institute

Pharmacogenetic study exploring the impact of a genetic variant in the CYP2R1 gene on the response to vitamin D replacement therapy Principal Investigator: Brent Richards

Affiliation: Lady Davis Institute - Jewish General Hospital

Evaluation of genetic variants identified through hereditary cancer gene discovery projects in a French Canadian control cohort Principal Investigator: William Foulkes

Affiliation: McGill University Health Centre

Genetic basis and modifiers of sleep disorders Principal Investigator: Simon Warby

Affiliation: Hôpital Sacré-Coeur de Montréal

Estimation de la prévalence de certaines mutations associées à un risque accru de cancer du sein, ainsi que du risque qui leur sont associées Principal Investigator: Jacques Simard

Affiliation: CHU de Québec

SNP discovery in myalgic encephalomyelitis (ME) Principal Investigator: Alain Moreau

Affiliation: CHU Ste-Justine

Genetics of REM sleep behavior disorder and conversion to Parkinson's disease Principal Investigator: Ziv Gan Or

Affiliation: McGill University

Marqueurs Ostéocytaires, Fractures et Évènements Cardiovasculaires en Insuffisance Rénale Chronique (MOFECIRC) Principal Investigator: Fabrice Mac-Way

Affiliation: Université Laval

Comparative Genomewide Association of Aortic Stenosis With and Without Coronary Artery Disease Principal Investigator: George Thanassoulis

Affiliation: McGill University Health Centre

Occupational Physical Activity and Lung Cancer Principal Investigator: Vikki Ho

Affiliation: CRCHUM

Genetic analyses of cardiometabolic diseases and traits in CARTaGENE Principal Investigator: Guillaume Lettre

Affiliation: Institut de Cardiologie de Montréal Centre de Recherche

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

L'étude du rôle prédicteur de la pression aortique centrale dans la survenue d'événements cardiovasculaires Principal Investigator: Rémi Goupil

Affiliation: Hôpital Sacré-Coeur de Montréal

2015

Evaluation of coronary vascular disease among high cardiovascular risk patients in CARTaGENE Principal Investigator: Thao Huynh

Affiliation: Sanofi

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

Affiliation: Sunnybrook Health Sciences Centre

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

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

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

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

Affiliation: Dalhousie University

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

Affiliation: Institut de santé mentale Douglas, Université McGill

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

Exploring the Potential of CARTaGENE for GIS-Based Epidemiology: A Pilot Study of Green Space and Mental Health Principal Investigator: Nolwenn Noisel

Affiliation: CHU Sainte-Justine, Université de Montréal

2013

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

Affiliation: CHU Ste-Justine

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

Affiliation: CHU Ste-Justine

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

Affiliation: Hôpital Sacré-Coeur

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

2012

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

Affiliation: Université de Berne, Suisse

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

Affiliation: Centre de santé de l’Université McGill

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

Affiliation: Université de Sherbrooke

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

2010

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