Last updated April 15, 2024– Pulled automatically from my Google Scholar profile. See this post for how it works.


M Basten, KY Pan, LA van Tuijl, A de Graeff, J Dekker, AW Hoogendoorn et al. (2024) Psychosocial factors, health behaviors and risk of cancer incidence: Testing interaction and effect modification in an individual participant data meta‐analysis, International journal of cancer,
I Nofech-Mozes, V Wang, P Awadalla, S Abelson (2024) Uncovering clinically significant tumor microenvironment interaction programs across diverse cancers, Cancer Research, 84 (6_Supplement), 5552-5552
N Cheng, K Skead, T Oullette, S Bratman, D De Carvalho, D Soave et al. (2024) Cell-free DNA methylation and fragmentomic signatures identify tissue damage and predict cancer risk, Cancer Research, 84 (6_Supplement), 3454-3454
EY Stutheit-Zhao, E Sanz-Garcia, Z Liu, D Wong, K Marsh et al. (2024) Early changes in tumor-naive cell-free methylomes and fragmentomes predict outcomes in pembrolizumab-treated solid tumors, Cancer Discovery,
E Hall, P Awadalla (2024) Age-specific transcriptional risk scores improve patient stratification and outcome predictions for early-onset acute myeloid leukemia, EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 767-767


TJ Murphy, H Swail, J Jain, M Anderson, P Awadalla, L Behl, PE Brown et al. (2023) The evolution of SARS-CoV-2 seroprevalence in Canada: a time-series study, 2020–2023, CMAJ, 195 (31), E1030-E1037
LA van Tuijl, M Basten, KY Pan, R Vermeulen, L Portengen, A de Graeff et al. (2023) Depression, anxiety, and the risk of cancer: An individual participant data meta‐analysis, Cancer, 10.1002/cncr.34853
Y Wang, S Namba, E Lopera, S Kerminen, K Tsuo, K Läll, M Kanai et al. (2023) Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts, Cell Genomics, 100241
W Hill, EL Lim, CE Weeden, C Lee, M Augustine, K Chen, FC Kuan et al. (2023) Lung adenocarcinoma promotion by air pollutants, Nature, 616 (7955), 159-167
VA Kirsh, K Skead, K McDonald, N Kreiger, J Little, K Menard et al. (2023) Cohort Profile: The Ontario Health Study (OHS), International Journal of Epidemiology, 52 (2), e137-e151
M Darvishian, A Moustaqim-Barrette, P Awadalla, P Bhatti, P Broet et al. (2023) Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health, Frontiers in Oncology, 13, 1113907
I Nofech-Mozes, D Soave, P Awadalla, S Abelson (2023) Pan-cancer classification of single cells in the tumour microenvironment, Nature Communications, 14 (1), 1615
C Calabrese, NR Davidson, D Demircioglu, NA Fonseca, Y He, A Kahles et al. (2023) Author Correction: Genomic basis for RNA alterations in cancer, NATURE
N Cheng, K Skead, A Singhawansa, T Ouellette, M Elliott, DW Cescon et al. (2023) Pre-diagnosis plasma cell-free DNA methylome profiling up to seven years prior to clinical detection reveals early signatures of breast cancer, medRxiv, 2023.01. 30.23285027


G Wong, K Skead, A Mitchell, J McLeod, P Awadalla, E Lechman, J Dick (2022) 3229–MODELING CLONAL HEMATOPOIESIS AND THE PRE-LEUKEMIC STATE WITH CHR13Q DELETION IN HUMAN HEMATOPOIETIC STEM CELLS, Experimental Hematology, 111, S159
W Zhou, M Kanai, KHH Wu, H Rasheed, K Tsuo, JB Hirbo, Y Wang et al. (2022) Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease, Cell Genomics, 2 (10), 100192
M Kanai, R Elzur, W Zhou, KHH Wu, H Rasheed, K Tsuo, JB Hirbo et al. (2022) Meta-analysis fine-mapping is often miscalibrated at single-variant resolution, Cell genomics, 2 (12), 100210
S Chen, J Petricca, W Ye, J Guan, Y Zeng, N Cheng, L Gong, SY Shen et al. (2022) The cell-free DNA methylome captures distinctions between localized and metastatic prostate tumors, Nature Communications, 13 (1), 6467
CB Joseph, M Mariniello, A Yoshifuji, G Schiano, J Lake, J Marten et al. (2022) Meta-GWAS reveals novel genetic variants associated with urinary excretion of uromodulin, Journal of the American Society of Nephrology, 33 (3), 511-529
SA Norris, CE Draper, A Prioreschi, CM Smuts, LJ Ware, CL Dennis et al. (2022) Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial …, BMJ open, 12 (4), e059914
SS Anand, MG Friedrich, DS Lee, P Awadalla, JP Després, D Desai et al. (2022) Evaluation of Adiposity and Cognitive Function in Adults, JAMA network open, 5 (2), e2146324-e2146324
N Cheng, K Skead, T Ouellette, S Bratman, D De Carvalho, D Soave et al. (2022) Early signatures of breast cancer up to seven years prior to clinical diagnosis in plasma cell-free DNA methylomes, ,
RA Murphy, M Darvishian, J Qi, Y Chen, Q Chu, J Vena, TJB Dummer et al. (2022) Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath), Cancer Causes & Control, 33 (6), 913-918
MP Harwood, I Alves, E H, A M, V Bruat, D Soave, FC Lamaze, MJ Fave et al. (2022) Recombination affects allele-specific expression of deleterious variants in human populations, Science Advances, 8 (19), 1-12
T Ouellette, P Awadalla (2022) Inferring ongoing cancer evolution from single tumour biopsies using synthetic supervised learning, PLOS Computational Biology, 18 (4), e1010007
JM Luu, C Gebhard, C Ramasundarahettige, D Desai, K Schulze et al. (2022) Normal sex and age-specific parameters in a multi-ethnic population: a cardiovascular magnetic resonance study of the Canadian Alliance for Healthy Hearts and Minds cohort, Journal of Cardiovascular Magnetic Resonance, 24 (1), 1-13
R Urquhart, P Awadalla, P Bhatti, T Dummer, S Gravel, J Vena, R Alvi et al. (2022) Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada., International Journal of Population Data Science, 7 (3)
VA Kirsh, K Skead, K McDonald, N Kreiger, J Little, K Menard et al. (2022) Cohort Profile: The Ontario Health Study (OHS), International Journal of Epidemiology,
N Cheng, D Soave, K Skead, T Ouellette, S Bratman, D De Carvalho et al. (2022) Pre-diagnosis plasma cell-free DNA methylation profiling reveals signatures of cancers up to7 years prior to clinical detection, Cancer Research, 82 (12_Supplement), 3385-3385
I Nofech-Mozes, P Awadalla, S Abelson (2022) Comprehensive cell-type classification of tumor and normal cells from single cell RNA sequencing in pan cancer settings, Cancer Research, 82 (12_Supplement), 1221-1221
K Skead, D Soave, MJ Fave, V Bruat, Q Morris, P Awadalla (2022) A multi-omic perspective of how selection shapes blood cancer risk phenotypes in aging populations, Cancer Research, 82 (12_Supplement), 2228-2228
TW Ouellette, P Awadalla (2022) Disentangling subclonal dynamics in growing tumors using stochastic simulations and Bayesian neural networks, Cancer Research, 82 (12_Supplement), 6090-6090
I Nofech-Mozes, D Soave, P Awadalla, S Abelson (2022) Pan-cancer classification of single cells in the tumour microenvironment, bioRxiv,


QTL consortium (2021) Large-scale cis-and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression, Nature Genetics, 1-11
K Bolton, Y Koh, M Foote, H Im, J Lee, CH Sun, A Safanov, R Ptashkin et al. (2021) Clonal hematopoiesis is associated with risk of severe Covid-19, Nature Communications, 12 (5975), 1-8
Y Wang, S Namba, EA Lopera-Maya, S Kerminen, K Tsuo, K Lall, M Kanai et al. (2021) Global biobank analyses provide lessons for computing polygenic risk scores across diverse cohorts, medRxiv,
R Durrani, MG Friedrich, KM Schulze, P Awadalla, K Balasubramanian et al. (2021) Effect of Cognitive Reserve on the Association of Vascular Brain Injury With Cognition: Analysis of the PURE and CAHHM Studies, Neurology, 97 (17), e1707-e1716
J Tremblay, M Haloui, R Attaoua, R Tahir, C Hishmih, F Harvey et al. (2021) Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control, Diabetologia, 64 (9), 2012-2025
K Skead, AA Houle, S Abelson, M Agbessi, V Bruat, B Lin, D Soave et al. (2021) Interacting evolutionary pressures drive mutation dynamics and health outcomes in aging blood, Nature Communications, 12 (1), 1-11
LA van Tuijl, AC Voogd, A de Graeff, AW Hoogendoorn, AV Ranchor et al. (2021) Psychosocial factors and cancer incidence (PSY‐CA): Protocol for individual participant data meta‐analyses, Brain and behavior, 11 (10), e2340
HC Gerstein, EE Smith, C Ramasundarahettige, D Desai, P Awadalla et al. (2021) Diabetes, brain infarcts, cognition, and small vessels in the Canadian alliance for healthy hearts and minds study, The Journal of Clinical Endocrinology & Metabolism, 106 (2), e891-e898
TW Ouellette, J Shaw, P Awadalla (2021) Using image-based haplotype alignments to map global adaptation of SARS-CoV-2, bioRxiv,
T Ouellette, P Awadalla (2021) Inferring ongoing cancer evolution from single tumour biopsies using synthetic supervised learning, BioRxiv,
E Sweeney, P Awadalla, P Bhatti, P Broet, T Dummer, J McLaughlin et al. (2021) The Utility of Occupational Health Data in the Canadian Partnership for Tomorrow’s Health (CanPath), Occupational and Environmental Medicine, 78 (Suppl 1), A61-A62
D Soave, JF Lawless, P Awadalla (2021) Score tests for scale effects, with application to genomic analysis, Statistics in Medicine, 40 (16), 3808-3822
N Cheng, K Skead, D Soave, J Meng, E Gbeha, I Lungu, B Lam et al. (2021) Leveraging cell-free methylome markers for early cancer detection, Cancer Research, 81 (13 Supplement), 2602-2602
C Parra-Herran, F Lamaze, S Nofech-Mozes, T Ouellette, J Uzunovic et al. (2021) CNV Signature Model is Highly Accurate in the Distinction Between Primary Ovarian Mucinous Carcinoma and Gastrointestinal Adenocarcinoma, LABORATORY INVESTIGATION, 101 (SUPPL 1), 727-728
H Trochet, J Pelletier, JC Grenier, MJ Favé, P Awadalla, J Hussin (2021) The relationship between reproductive lifespan and coronary artery disease, Canadian Journal of Cardiology, 37 (2), e21
A Choudhury, S Aron, LR Botigue, D Sengupta, G Botha, T Bensellak et al. (2021) High-depth African genomes inform human migration and health (vol 586, pg 741, 2020), Nature, 592 (7856), E26-E26


PCAWG Consortium (2020) Pan-cancer analysis of whole genomes., Nature, 578 (7793), 82-93
C Calabrese, NR Davidson, D Demircioğlu, NA Fonseca, Y He, A Kahles et al. (2020) Genomic basis for RNA alterations in cancer, Nature, 578 (7793), 129-136
H3Africa (2020) High-depth African Genomes Inform Human Migration and Health, Nature, 586, 741-748
PCAWG (2020) High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations., Nature Communications, 11 (5), 736
AR Hammerschlag, EM Byrne, M Agbessi, H Ahsan, I Alves, A Andiappan et al. (2020) Refining attention-deficit/hyperactivity disorder and autism spectrum disorder genetic loci by integrating summary data from genome-wide association, gene expression, and DNA …, Biological Psychiatry, 88 (6), 470-479
SS Anand, JV Tu, D Desai, P Awadalla, P Robson, S Jacquemont et al. (2020) Cardiovascular risk scoring and magnetic resonance imaging detected subclinical cerebrovascular disease, European Heart Journal-Cardiovascular Imaging, 21 (6), 692-700
N Zhao, A Smargiassi, M Hatzopoulou, I Colmegna, M Hudson, MJ Fritzler et al. (2020) Long-term exposure to a mixture of industrial SO2, NO2, and PM2. 5 and anti-citrullinated protein antibody positivity, Environmental Health, 19 (1), 1-8
SS Anand, MG Friedrich, D Desai, KM Schulze, P Awadalla, D Busseuil et al. (2020) Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury, Stroke, 51 (4), 1158-1165
S Abelson, AGX Zeng, I Nofech-Mozes, TT Wang, SWK Ng, MD Minden et al. (2020) Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing, Science advances, 6 (50), eabe3722
KL Bolton, M Foote, J Jee, A Safonov, R Ptashkin, S Devlin, E Gedvilaite et al. (2020) Clonal hematopoiesis and COVID-19 severity in cancer patients, Blood, 136, 37-38
C Parra-Herran, S Nofech-Mozes, J Uzunovic, F Lamaze, I Lungu, C Ptak et al. (2020) Comprehensive Genomic Characterization of Primary Ovarian Mucinous Carcinoma, LABORATORY INVESTIGATION, 100 (SUPPL 1), 1116-1117
L Stein, C Yung, P Awadalla, C Williams, L Radvanyi, J Adams et al. (2020) A Standards-Based Digital Infrastructure for Secure Sharing of Human Biomedical Research Data, ,
K Skead, AA Houle, S Abelson, MJ Fave, B Lin, D Soave, S Wright et al. (2020) Opposing Evolutionary Pressures Drive Clonal Evolution and Health Outcomes in the Aging Blood System, Blood, 136, 37
RE Hall, N Tusevljak, CF Wu, Q Ibrahim, K Schulze, AM Khan, D Desai et al. (2020) The Canadian Alliance for Healthy Hearts and Minds: How Well Does It Reflect the Canadian Population?, CJC open, 2 (6), 599-609
WU Meyerson, LJ Dursi, LB Wang, G Dong, WW Liang, A Weerasinghe et al. (2020) Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples, Nature Publishing Group UK,
SD Prokopec, RX Sun, F Yousif, N Schmitz, F Al-Shahrour, G Atwal et al. (2020) Sex differences in oncogenic mutational processes, Nature Publishing Group UK,
K Skead, AA Houle, S Abelson, M Agbessi, V Bruat, B Lin, D Soave et al. (2020) Interacting evolutionary pressures drive mutation dynamics and health outcomes in aging blood, BioRxiv,
C Calabrese, NR Davidson, D Demircioglu, NA Fonseca, Y He, A Kahles et al. (2020) Intraplate volcanism originating from upwelling hydrous mantle transition zone, ,


MR Team, QTL Consortium, IC Consortium (2019) Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences, Nature Genetics,
(2019) Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances, elife, e, e39856
E Porcu, S Rüeger, K Lepik, FA Santoni, A Reymond, Z Kutalik (2019) Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits, Nature communications, 10 (1), 1-12
E Lowy-Gallego, S Fairley, X Zheng-Bradley, M Ruffier, L Clarke, P Flicek et al. (2019) Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project, Wellcome Open Research, 4
X Shao, M Hudson, I Colmegna, CMT Greenwood, MJ Fritzler, P Awadalla et al. (2019) Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing, Clinical epigenetics, 11 (1), 1-11
A Krajcoviechova, FC Marois-Blanchet, S Troyanov, F Harvey, P Dumas et al. (2019) Uromodulin in a pathway between decreased renal urate excretion and albuminuria, American journal of hypertension, 32 (4), 384-392
N Zhao, A Smargiassi, M Hatzopoulou, I Colmegna, M Hudson, M Fritzler et al. (2019) Multiple industrial air pollutants and anti-citrullinated protein antibody positivity, ARTHRITIS & RHEUMATOLOGY, 71
J Tremblay, M Haloui, F Harvey, R Tahir, FC Marois-Blanchet, C Long et al. (2019) Polygenic risk scores predict diabetic complications and their response to therapy, MedRxiv, 19010785
P Awadalla (2019) 133-The Canadian Partnership for Tomorrow Project: Canada’s Longitudinal Population Laboratory, Canadian Journal of Diabetes, 43 (7), S45


S Abelson, G Collord, SWK Ng, O Weissbrod, N Mendelson Cohen et al. (2018) Prediction of acute myeloid leukaemia risk in healthy individuals, Nature, 559 (7714), 400-404
Consortium, eQTL (2018) Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes., Nature Communications, 9 (1), 2941
U Võsa, A Claringbould, HJ Westra, MJ Bonder, P Deelen, B Zeng et al. (2018) Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis, BioRxiv, 447367
Consortium, eQTL (2018) Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood., Nature Communications, 9 (1), 2282
MJ Favé, FC Lamaze, D Soave, A Hodgkinson, H Gauvin, V Bruat et al. (2018) Gene-by-environment interactions in urban populations modulate risk phenotypes, Nature communications, 9 (1), 1-12
TJB Dummer, P Awadalla, C Boileau, C Craig, I Fortier, V Goel, JMT Hicks et al. (2018) The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention, Cmaj, 190 (23), E710-E717
S Peischl, I Dupanloup, A Foucal, M Jomphe, V Bruat, JC Grenier, A Gouy et al. (2018) Relaxed selection during a recent human expansion, Genetics, 208 (2), 763-777
AA Houle, H Gibling, FC Lamaze, HA Edgington, D Soave, MJ Fave et al. (2018) Aberrant PRDM9 expression impacts the pan-cancer genomic landscape, Genome research, 28 (11), 1611-1620
TC PCAWG (2018) Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types, bioRxiv, 183889
A Krajcoviechova, F Marois-Blanchet, S Troyanov, F Harvey, P Dumas et al. (2018) URINARY UROMODULIN IN A PATHWAY BETWEEN DECREASED URINARY URIC ACID EXCRETION AND ALBUMINURIA, Journal of Hypertension, 36, e119


EJ Gardner, VK Lam, DN Harris, NT Chuang, EC Scott, WS Pittard et al. (2017) The Mobile Element Locator Tool (MELT): population-scale mobile element discovery and biology, Genome research, 27 (11), 1916-1929
DA Knowles, JR Davis, H Edgington, A Raj, MJ Favé, X Zhu, JB Potash et al. (2017) Allele-specific expression reveals interactions between genetic variation and environment, Nature methods, 14 (7), 699-702
X Zheng-Bradley, I Streeter, S Fairley, D Richardson, L Clarke, P Flicek et al. (2017) Alignment of 1000 Genomes Project reads to reference assembly GRCh38, Gigascience, 6 (7), gix038
I Alves, AA Houle, JG Hussin, P Awadalla (2017) The impact of recombination on human mutation load and disease, Philosophical Transactions of the Royal Society B: Biological Sciences, 372 …
FC Lamaze, A Chateigner, HA Edgington, MJ Fave, AA Houle et al. (2017) Motif disruption domains lead to cancer gene expression rewiring, bioRxiv, 126359
S Abelson, SWK Ng, O Wiessbrod, P Zuzarte, L Heisler et al. (2017) Progression to AML is predictable and distinct from age related clonal hematopoiesis, Blood, 130, 471
S Amin, P Awadalla, A Biankin, P Boutros, A Brazma, AN Brooks et al. (2017) Abstract SY10-02: Pan-cancer study of recurrent and heterogeneous RNA aberrations and association with whole-genome variants, Cancer Research, 77 (13 Supplement), SY10-02-SY10-02
MJ Favé, FC Lamaze, A Hodgkinson, H Gauvin, V Bruat, JC Grenier et al. (2017) Genomic and Environmental Contributions to Chronic Diseases in Urban Populations, bioRxiv, 099770


GD Poznik, Y Xue, FL Mendez, GP Consortium, CD Bustamante et al. (2016) Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences, Nature Genetics, 48 (6), 593-599
KR Kukurba, P Parsana, B Balliu, KS Smith, Z Zappala, DA Knowles et al. (2016) Impact of the X chromosome and sex on regulatory variation, Genome research, 26 (6), 768-777
N Schmitz, SS Deschênes, RJ Burns, KJ Smith, A Lesage, I Strychar et al. (2016) Depression and risk of type 2 diabetes: the potential role of metabolic factors, Molecular Psychiatry,
C Preuss, M Capredon, F Wünnemann, P Chetaille, A Prince, B Godard et al. (2016) Family based whole exome sequencing reveals the multifaceted role of notch signaling in congenital heart disease, PLoS genetics, 12 (10), e1006335
I Bourdeau, S Oble, F Magne, I Lévesque, KY Cáceres-Gorriti, S Nolet et al. (2016) ARMC5 mutations in a large French-Canadian family with cortisol-secreting b-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia, Eur J Endocrinol, 174 (1), 85-96
ND Merner, A Mercado, AR Khanna, A Hodgkinson, V Bruat, P Awadalla et al. (2016) Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia, Journal of psychiatric research, 77, 22-26
S Troyanov, C Delmas-Frenette, G Bollée, S Youhanna, V Bruat et al. (2016) Clinical, genetic, and urinary factors associated with uromodulin excretion, Clinical Journal of the American Society of Nephrology, 11 (1), 62-69
SS Anand, JV Tu, P Awadalla, S Black, C Boileau, D Busseuil, D Desai et al. (2016) Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM)–a Pan Canadian cohort study, BMC public health, 16 (1), 1-15
F Wünnemann, V Kokta, S Leclerc, M Thibeault, C McCuaig, A Hatami et al. (2016) Aortic dilatation associated with a de novo mutation in the SOX18 gene: expanding the clinical spectrum of hypotrichosis-lymphedema-telangiectasia syndrome, Canadian Journal of Cardiology, 32 (1), 135. e1-135. e7
A Hodgkinson, JC Grenier, E Gbeha, P Awadalla (2016) A haplotype-based normalization technique for the analysis and detection of allele specific expression, BMC bioinformatics, 17 (1), 1-10
S Gomez, A Diawara, E Gbeha, P Awadalla, A Sanni, Y Idaghdour et al. (2016) Comparative Analysis of Iron Homeostasis in Sub-Saharan African Children with Sickle Cell Disease and Their Unaffected Siblings, Frontiers Pediatrics,
V Kumar, HJ Westra, J Karjalainen, DV Zhernakova, T Esko, B Hrdlickova et al. (2016) Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus, Nature,


1000 Genomes Project Consortium (2015) A global reference for human genetic variation., Nature, 526 (7571), 68-74
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov et al. (2015) An integrated map of structural variation in 2,504 human genomes., Nature, 526 (7571), 75-81
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JG Hussin, A Hodgkinson, Y Idaghdour, JC Grenier, JP Goulet, E Gbeha et al. (2015) Recombination affects accumulation of damaging and disease-associated mutations in human populations, Nature genetics, 47 (4), 400-404
1000 Genomes Project Consortium (2015) Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. A global reference for human genetic variation, Nature, 526 (7571), 68-74
Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A ... (2015) Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis, Neurobiology of Aging,
ELB Rana, MR Tahir, J Tremblay, M Joffres, O Šeda, L Šedová et al. (2015) Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals, Journal of Hypertension, 33 (4), 727-735
S Bernatsky, X Shao, MM Simon, MJ Fritzler, P Awadalla, M Hudson et al. (2015) DNA Methylation and Its Relation to Immunological Phenotypes in Peripheral Blood: A Study of Anti-CCP Antibody Positivity from a Population-Based Pool, ARTHRITIS & RHEUMATOLOGY, 67
Y Fu, Z Liu, S Lou, V Colonna, J Bedford, X Mu, KY Yip, HM Kang et al. (2015) A computational framework for prioritizing noncoding regulatory variants in cancer, Cancer Research, 75 (15 Supplement), 4854-4854
S Bernatsky, M Fritzler, M Hudson, I Colmegna, P Fortin, A Brand et al. (2015) Industrial Pollution Emissions are associated with Anti-CCP Antibodies, JOURNAL OF RHEUMATOLOGY, 42 (7), 1316-1317
JT Simpson, M Cerezo, C Churchhouse, DM Altshuler, Y Lu, D Kim et al. (2015) A global reference for human genetic variation, Springer,


O Delaneau, J Marchini (2014) Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel, Nature communications, 5 (1), 1-9
T Willems, M Gymrek, G Highnam, GP Consortium, D Mittelman, Y Erlich (2014) The landscape of human STR variation, Genome Research, 24 (11), 1894-904
K Kahle, N Merner, P Friedel, L Silayeva, B Liang, A Khanna, Y Shang et al. (2014) Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy., EMBO Reports, 15 (7), 766-74
A Hodgkinson, Y Idaghdour, E Gbeha, JC Grenier, E Hip-Ki, V Bruat et al. (2014) High-resolution genomic analysis of human mitochondrial RNA sequence variation, Science, 344 (6182), 413-415
V Colonna, TGP Consortium (2014) Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences., Genome Biology, 15 (6), R88
JC Verhave, S Troyanov, F Mongeau, L Fradette, J Bouchard, P Awadalla et al. (2014) Prevalence, awareness, and management of CKD and cardiovascular risk factors in publicly funded health care, Clinical journal of the American Society of Nephrology, 9 (4), 713-719
J Quinlan, Y Idaghdour, JP Goulet, E Gbeha, T de Malliard, V Bruat et al. (2014) Genomic architecture of sickle cell disease in West African children, Frontiers in genetics, 5, 26
I Kurnatowska, P Grzelak, A Masajtis-Zagajewska, M Kaczmarska et al. (2014) CKD pathophysiology and clinical studies, Nephrology Dialysis Transplanation, 29 (suppl_3), iii148-iii167
V Colonna, Q Ayub, Y Chen, L Pagani, P Luisi, M Pybus, E Garrison et al. (2014) Human genomic regions with exceptionally high or low levels of population differentiation identified from 911 whole-genome sequences, bioRxiv, 005462
JG Hussin, A Hodgkinson, Y Idaghdour, JC Grenier, JP Goulet, E Gbeha et al. (2014) Recombination impacts damaging and disease mutation accumulation in human populations, bioRxiv, 006064


E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang, T Lappalainen, A Sboner et al. (2013) Integrative annotation of variants from 1092 humans: application to cancer genomics, Science, 342 (6154), 1235587
SR Grossman, KG Andersen, I Shlyakhter, S Tabrizi, S Winnicki, A Yen et al. (2013) Identifying Recent Adaptations in Large-Scale Genomic Data, Cell, 152 (4), 703-713
SB Montgomery, DL Goode, E Kvikstad, CA Albers, ZD Zhang, XJ Mu et al. (2013) The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes, Genome research, 23 (5), 749-761
P Awadalla, C Boileau, Y Payette, Y Idaghdour, JP Goulet, B Knoppers et al. (2013) Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics, International journal of epidemiology, 42 (5), 1285-1299
ME Samuels, J Majewski, N Alirezaie, I Fernandez, F Casals, N Patey et al. (2013) Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia, Journal of medical genetics, 50 (5), 324-329
F Casals, A Hodgkinson, J Hussin, Y Idaghdour, V Bruat, T de Maillard et al. (2013) Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans, PLoS genetics, 9 (9), e1003815
J Hussin, D Sinnett, F Casals, Y Idaghdour, V Bruat, V Saillour, J Healy et al. (2013) Rare allelic forms of PRDM9 associated with childhood leukemogenesis, Genome research, 23 (3), 419-430
A Abyzov, R Iskow, O Gokcumen, DW Radke, S Balasubramanian, B Pei et al. (2013) Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division, Genome research, 23 (12), 2042-2052
MM Zilversmit, EK Chase, DS Chen, P Awadalla, KP Day, G McVean (2013) Hypervariable antigen genes in malaria have ancient roots, BMC Evolutionary Biology, 13 (1), 1-11
CL Yauk, JL Argueso, SS Auerbach, P Awadalla, SR Davis, DM DeMarini et al. (2013) Harnessing genomics to identify environmental determinants of heritable disease, Mutation Research/Reviews in Mutation Research, 752 (1), 6-9
Y Idaghdour, P Awadalla (2013) Exploiting Gene Expression Variation to Capture Gene-Environment Interactions for Disease, Frontiers in Statistical Genetics and Methodology, 3, 228
A Hodgkinson, F Casals, Y Idaghdour, JC Grenier, RD Hernandez et al. (2013) Selective constraint, background selection, and mutation accumulation variability within and between human populations, BMC genomics, 14 (1), 1-10
S Pattaradilokrat, J Mu, P Awadalla, X Su (2013) Genome diversity and applications in genetic studies of the human malaria parasites Plasmodium falciparum and Plasmodium vivax, Malaria parasites: comparative genomics, evolution and molecular biology, 59, 90
MP Hitz, LP Lemieux-Perreault, C Marshall, Y Feroz-Zada, R Davies et al. (2013) Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease, PLoS genetics, 9 (3)
M Capredon, C Preuss, J Grenier, V Bruat, T de Malliard, S Leclerc et al. (2013) Impact of Rare Genetic Variations on Left Ventricular Outflow Tract Obstruction: Lessons From Whole Exome Sequencing, Canadian Journal of Cardiology, 29 (10), S243
C Preuss, S Yang, M Capredon, M Samuels, P Awadalla, P Chetaille et al. (2013) Composite Effects of Rare Variants in a Novel X-Linked Form of Congenital Heart Disease in the Québec Founder Population, Canadian Journal of Cardiology, 29 (10), S87
C Preuss, M Capredon, G Asselin, M Dubé, M Samuels, P Awadalla et al. (2013) Linkage Mapping and Whole-Exome Sequencing in a Family With Left Ventricular Outflow Tract Obstruction, Canadian Journal of Cardiology, 29 (10), S88
R Hernandez, A Hodgkinson, F Casals, Y Idaghdour, JC Grenier et al. (2013) Selective constraint, background selection, and mutation accumulation variability within and between human populations, ,


1000 Genomes Project Consortium (2012) An integrated map of genetic variation from 1,092 human genomes, Nature, 491 (7422), 56-65
DG MacArthur, S Balasubrmanian, A Frankish, N Huang, J Morris et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes, Science, 335 (6070), 823-828
Y Xue, Y Chen, Q Ayub, N Huang, EV Ball, M Mort, AD Phillips, K Shaw et al. (2012) Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing, The American Journal of Human Genetics, 91 (6), 1022-1032
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Y Idaghdour, J Quinlan, JP Goulet, J Berghout, E Gbeha, V Bruat et al. (2012) Evidence for additive and interaction effects of host genotype and infection in malaria, Proceedings of the National Academy of Sciences, 109 (42), 16786-16793
F Casals, Y Idaghdour, J Hussin, P Awadalla (2012) Next-generation sequencing approaches for genetic mapping of complex diseases, Journal of neuroimmunology, 248 (1-2), 10-22
RA Cartwright, J Hussin, JEM Keebler, EA Stone, P Awadalla (2012) A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data, Statistical applications in genetics and molecular biology, 11 (2)
R El Bikai, J Tremblay, P Dumas, O Šeda, L Šedová, P Awadalla et al. (2012) 798 Hypertensive patients are more at risk of developing osteoporosis and having fractures due to their low bone mineral density, Journal of Hypertension, 30, e231
M Ivanga, J Sandoval, Y Idaghdour, G Corbeil, P Awadalla, O Seda et al. (2012) 70 17q21. 31 CNV DOSE DEPENDENT EFFECT ON THE PREVALENCE OF HYPERTENSION AND DYSLIPIDEMIA COMORBIDITY, Journal of Hypertension, 30, e22
R El Bikai, P Dumas, P Awadalla, J Temblay, C Laberge, LG Ste-Marie et al. (2012) P35 Évidence de risque accru d’ostéoporose dans le diabète et l’hypertension: importance de la masse musculaire., Diabetes & Metabolism, 38, A40
R El Bikai, P Dumas, P Awadalla, J Temblay, C Laberge, LG Ste-Marie et al. (2012) Evidence of increased risk of osteoporosis in diabetes and hypertension: importance of muscle mass, DIABETES & METABOLISM, 38, A40-A40


P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo et al. (2011) The variant call format and VCFtools, Bioinformatics, 27 (15), 2156-2158
RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov et al. (2011) Mapping copy number variation by population-scale genome sequencing, Nature, 470 (7332), 59-65
DF Conrad, JEM Keebler, MA DePristo, SJ Lindsay, Y Zhang, F Casals et al. (2011) Variation in genome-wide mutation rates within and between human families, Nature Genetics, 43 (7), 712-714
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu et al. (2011) Demographic history and rare allele sharing among human populations, Proceedings of the National Academy of Sciences, 108 (29), 11983-11988
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C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz et al. (2011) A comprehensive map of mobile element insertion polymorphisms in humans, PLoS genetics, 7 (8), e1002236
H Jiang, N Li, V Gopalan, MM Zilversmit, S Varma, V Nagarajan, J Li, J Mu et al. (2011) High recombination rates and hotspots in a Plasmodium falciparum genetic cross, Genome biology, 12 (4), 1-15
RA Myers, F Casals, J Gauthier, FF Hamdan, J Keebler, AR Boyko et al. (2011) A population genetic approach to mapping neurological disorder genes using deep resequencing, PLoS genetics, 7 (2), e1001318
OLH Branch, PL Sutton, C Barnes, JC Castro, J Hussin, P Awadalla et al. (2011) Plasmodium falciparum Genetic Diversity Maintained and Amplified Over 5 Years of a Low Transmission Endemic in the Peruvian Amazon, Molecular biology and evolution, 28 (7), 1973-1986
J Hussin, MH Roy-Gagnon, R Gendron, G Andelfinger, P Awadalla (2011) Age-dependent recombination rates in human pedigrees, PLoS genetics, 7 (9), e1002251
F Casals, M Sikora, H Laayouni, L Montanucci, A Muntasell, R Lazarus et al. (2011) Genetic adaptation of the antibacterial human innate immunity network, BMC evolutionary biology, 11 (1), 1-11
H Laayouni, L Montanucci, M Sikora, M Mele, GM Dall'Olio et al. (2011) Similarity in recombination rate estimates highly correlates with genetic differentiation in humans, PLoS One, 6 (3), e17913
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GP Consortium (2010) A map of human genome variation from population scale sequencing, Nature, 467 (7319), 1061-1073
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W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying et al. (2010) Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus, PLoS genetics, 6 (2), e1000841
J Gauthier, N Champagne, RG Lafrenière, L Xiong, D Spiegelman et al. (2010) De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia, Proceedings of the National Academy of Sciences, 107 (17), 7863-7868
P Awadalla, J Gauthier, RA Myers, F Casals, FF Hamdan, AR Griffing et al. (2010) Direct measure of the de novo mutation rate in autism and schizophrenia cohorts, The American Journal of Human Genetics, 87 (3), 316-324
DL Guernsey, H Jiang, J Hussin, M Arnold, K Bouyakdan, S Perry et al. (2010) Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4, The American Journal of Human Genetics, 87 (1), 40-51
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MM Zilversmit, SK Volkman, MA DePristo, DF Wirth, P Awadalla, DL Hartl (2010) Low-Complexity Regions in Plasmodium falciparum: Missing Links in the Evolution of an Extreme Genome, Molecular biology and evolution, 27 (9), 2198-2209


Psychiatric GWAS Consortium Coordinating Committee (2009) Genomewide association studies: history, rationale, and prospects for psychiatric disorders, American Journal of Psychiatry, 166 (5), 540-556


F Prugnolle, K McGee, J Keebler, P Awadalla (2008) Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodents, BMC Evolutionary Biology, 8 (1), 1-9


J Mu, P Awadalla, J Duan, KM McGee, J Keebler, K Seydel, GAT McVean et al. (2007) Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome, Nature genetics, 39 (1), 126-130
J Bockhorst, F Lu, JH Janes, J Keebler, B Gamain, P Awadalla, X Su et al. (2007) Structural polymorphism and diversifying selection on the pregnancy malaria vaccine candidate VAR2CSA, Molecular and biochemical parasitology, 155 (2), 103-112
P Awadalla, XZ Su, K McGee (2007) Recombination and Its Role in the Evolution of Pathogenic Microbes, Encyclopedia of Infectious Diseases: Modern Methodologies, 163-173


AR Trimnell, SM Kraemer, S Mukherjee, DJ Phippard, JH Janes et al. (2006) Global genetic diversity and evolution of var genes associated with placental and severe childhood malaria, Molecular and biochemical parasitology, 148 (2), 169-180
MA Carbone, KW Jordan, RF Lyman, ST Harbison, J Leips, TJ Morgan et al. (2006) Phenotypic variation and natural selection at Catsup, a pleiotropic quantitative trait gene in Drosophila, Current Biology, 16 (9), 912-919
M Jackson, AJ Watt, P Gautier, D Gilchrist, J Driehaus, GJ Graham et al. (2006) A murine specific expansion of the Rhox cluster involved in embryonic stem cell biology is under natural selection, BMC genomics, 7 (1), 1-14
SM Kraemer, G Aggarwal, A Springer, S Nelson, A Trimnell, L Smith et al. (2006) Unique patterns of recombination shape var gene structures and repertoires in P. falciparum, The FASEB Journal, 20 (5), A909-A909


J Mu, P Awadalla, J Duan, KM McGee, DA Joy, GAT McVean, X Su (2005) Recombination hotspots and population structure in Plasmodium falciparum, PLOS Biology, 3 (10), e335


DA Barbash, P Awadalla, AM Tarone, M Noor (2004) Functional Divergence Caused by Ancient Positive Selection of a Drosophila Hybrid Incompatibility Locus, PLoS biology, 2 (6), e142
KK Shimizu, JM Cork, AL Caicedo, CA Mays, RC Moore, KM Olsen et al. (2004) Darwinian selection on a selfing locus, Science, 306 (5704), 2081-2084
DT Haydon, ADS Bastos, P Awadalla (2004) Low linkage disequilibrium indicative of recombination in foot-and-mouth disease virus gene sequence alignments, Journal of general virology, 85 (5), 1095-1100


P Awadalla (2003) The evolutionary genomics of pathogen recombination, Nature Reviews Genetics, 4 (1), 50-60
D Charlesworth, BK Mable, MH Schierup, C Bartolomé, P Awadalla (2003) Diversity and Linkage of Genes in the Self-Incompatibility Gene Family in Arabidopsis lyrata, Genetics, 164 (4), 1519-1535
AA Abdel-Muhsin, MJ Mackinnon, P Awadalla, E Ali, S Suleiman et al. (2003) Local differentiation in Plasmodium falciparum drug resistance genes in Sudan, Parasitology, 126 (5), 391-400


G McVean, P Awadalla, P Fearnhead (2002) A coalescent-based method for detecting and estimating recombination from gene sequences, Genetics, 160 (3), 1231-1241
MH Schierup, BK Mable, P Awadalla, D Charlesworth (2002) Identification and characterization of a polymorphic receptor kinase gene linked to the self-incompatibility locus of Arabidopsis lyrata (vol 158, pg 387, 2000), GENETICS, 160 (3), 1263-1263


MH Schierup, BK Mable, P Awadalla, D Charlesworth (2001) Identification and Characterization of a Polymorphic Receptor Kinase Gene Linked to the Self-Incompatibility Locus of Arabidopsis lyrata, Genetics, 158 (1), 387-399
A Eyre-Walker, P Awadalla (2001) Does human mtDNA recombine?, Journal of Molecular Evolution, 53 (4), 430-435
P Awadalla, D Walliker, H Babiker, M Mackinnon (2001) The question of Plasmodium falciparum population structure, Trends in parasitology, 17 (8), 351-353
P Awadalla (2001) Molecular Evolution of Self-incompatibility Loci in the Brassicacacea, University of Edinburgh,


D Charlesworth, P Awadalla, BK Mable, MH Schierup (2000) Population-level studies of multiallelic self-incompatibility loci, with particular reference to Brassicaceae, Annals of Botany, 85 (suppl_1), 227-239
P Awadalla (2000) The molecular evolution of self-incompatibility loci in the Brassicaceae family, University of Edinburgh,


P Awadalla, A Eyre-Walker, JM Smith (1999) Linkage disequilibrium and recombination in hominid mitochondrial DNA, Science, 286 (5449), 2524-2525
P Awadalla, D Charlesworth (1999) Recombination and selection at Brassica self-incompatibility loci, Genetics, 152 (1), 413-425


D Charlesworth, P Awadalla (1998) Flowering plant self-incompatibility: the molecular population genetics of Brassica S-loci, Heredity, 81 (1), 1-9


P Awadalla, K Ritland (1997) Microsatellite variation and evolution in the Mimulus guttatus species complex with contrasting mating systems., Molecular biology and evolution, 14 (10), 1023-1034
P Awadalla (1997) Microsatellite variation and evolution in mixed mating species of Mimulus (Scrophulariaceae)., ,