Philip Awadalla
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Why Is Philip Awadalla Influential?
(Suggest an Edit or Addition)According to Wikipedia, Philip Awadalla is a professor of medical and population genetics at the Ontario Institute for Cancer Research, and the Department of Molecular Genetics, Faculty of Medicine, University of Toronto. He is the National Scientific Director of the Canadian Partnership for Tomorrow's Health , formerly the Canadian Partnership for Tomorrow Project , and executive director of the Ontario Health Study. He is also the Executive Scientific Director of the Genome Canada Genome Technology Platform, the Canadian Data Integration Centre. Professor Awadalla was the Executive Scientific Director of the CARTaGENE biobank, a regional cohort member of the CPTP, from 2009 to 2015, and is currently a scientific advisor for this and other scientific and industry platforms. At the OICR, he is Director of Computational Biology.
Philip Awadalla's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- A coalescent-based method for detecting and estimating recombination from gene sequences. (2002) (675)
- Variation in genome-wide mutation rates within and between human families (2011) (571)
- Prediction of acute myeloid leukaemia risk in healthy individuals (2018) (517)
- Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis (2018) (451)
- Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (421)
- Patterns of somatic structural variation in human cancer genomes (2020) (377)
- De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia (2010) (350)
- Linkage disequilibrium and recombination in hominid mitochondrial DNA. (1999) (312)
- Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression (2021) (284)
- Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. (2010) (239)
- Genomic basis for RNA alterations in cancer (2020) (221)
- Genome-wide variation and identification of vaccine targets in the Plasmodium falciparum genome (2007) (205)
- Comprehensive molecular characterization of mitochondrial genomes in human cancers (2017) (197)
- Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. (2010) (196)
- The evolutionary genomics of pathogen recombination (2003) (192)
- Recombination Hotspots and Population Structure in Plasmodium falciparum (2005) (192)
- Plasmodium falciparum genome-wide scans for positive selection, recombination hot spots and resistance to antimalarial drugs (2010) (189)
- Global genetic diversity and evolution of var genes associated with placental and severe childhood malaria. (2006) (171)
- Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy (2014) (158)
- Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics. (2013) (154)
- Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances (2018) (144)
- Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits (2018) (139)
- High-depth African genomes inform human migration and health (2020) (136)
- Identification and characterization of a polymorphic receptor kinase gene linked to the self-incompatibility locus of Arabidopsis lyrata. (2001) (133)
- Questioning evidence for recombination in human mitochondrial DNA. (2000) (128)
- Structural polymorphism and diversifying selection on the pregnancy malaria vaccine candidate VAR2CSA. (2007) (123)
- Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia (2013) (120)
- Functional Divergence Caused by Ancient Positive Selection of a Drosophila Hybrid Incompatibility Locus (2004) (112)
- Allele-specific expression reveals interactions between genetic variation and environment (2015) (112)
- Phenotypic Variation and Natural Selection at Catsup, a Pleiotropic Quantitative Trait Gene in Drosophila (2006) (108)
- Local differentiation in Plasmodium falciparum drug resistance genes in Sudan (2003) (104)
- Darwinian Selection on a Selfing Locus (2004) (103)
- Microsatellite variation and evolution in the Mimulus guttatus species complex with contrasting mating systems. (1997) (103)
- Diversity and linkage of genes in the self-incompatibility gene family in Arabidopsis lyrata. (2003) (93)
- High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation (2014) (91)
- Does Human mtDNA Recombine? (2001) (91)
- Evidence for additive and interaction effects of host genotype and infection in malaria (2012) (90)
- A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing (2011) (88)
- High recombination rates and hotspots in a Plasmodium falciparum genetic cross (2011) (84)
- Impact of the X Chromosome and sex on regulatory variation (2015) (78)
- Gene-by-environment interactions in urban populations modulate risk phenotypes (2018) (78)
- Recombination and selection at Brassica self-incompatibility loci. (1999) (75)
- Recombination affects accumulation of damaging and disease-associated mutations in human populations (2015) (72)
- Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans (2013) (71)
- Low-complexity regions in Plasmodium falciparum: missing links in the evolution of an extreme genome. (2010) (66)
- Flowering plant self-incompatibility: the molecular population genetics of Brassica S-loci (1998) (58)
- Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis (2015) (57)
- Prevalence, awareness, and management of CKD and cardiovascular risk factors in publicly funded health care. (2014) (55)
- Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease (2016) (54)
- The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention (2018) (53)
- Relaxed Selection During a Recent Human Expansion (2016) (51)
- Rare allelic forms of PRDM9 associated with childhood leukemogenesis (2013) (50)
- Plasmodium falciparum Genetic Diversity Maintained and Amplified Over 5 Years of a Low Transmission Endemic in the Peruvian Amazon (2010) (49)
- Age-Dependent Recombination Rates in Human Pedigrees (2011) (48)
- Hypervariable antigen genes in malaria have ancient roots (2013) (46)
- Depression and risk of type 2 diabetes: the potential role of metabolic factors (2016) (46)
- ARMC5 mutations in a large French-Canadian family with cortisol-secreting β-adrenergic/vasopressin responsive bilateral macronodular adrenal hyperplasia. (2016) (46)
- The Canadian Urban Environmental Health Research Consortium – a protocol for building a national environmental exposure data platform for integrated analyses of urban form and health (2018) (44)
- Population-level Studies of Multiallelic Self-incompatibility Loci, with Particular Reference to Brassicaceae (2000) (44)
- Sex differences in oncogenic mutational processes (2019) (41)
- Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia. (2016) (40)
- The question of Plasmodium falciparum population structure. (2001) (40)
- High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (2020) (34)
- Clonal hematopoiesis is associated with risk of severe Covid-19 (2020) (32)
- Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion. (2016) (31)
- Low linkage disequilibrium indicative of recombination in foot-and-mouth disease virus gene sequence alignments. (2004) (31)
- Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals (2015) (30)
- A murine specific expansion of the Rhox cluster involved in embryonic stem cell biology is under natural selection (2006) (30)
- Harnessing genomics to identify environmental determinants of heritable disease. (2013) (29)
- Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour (2021) (29)
- Genetic adaptation of the antibacterial human innate immunity network (2011) (29)
- Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study (2016) (29)
- The impact of recombination on human mutation load and disease (2017) (28)
- Exploiting Gene Expression Variation to Capture Gene-Environment Interactions for Disease (2013) (27)
- Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types (2017) (27)
- Next-generation sequencing approaches for genetic mapping of complex diseases (2012) (26)
- Clonal hematopoiesis is associated with risk of severe Covid-19 (2021) (25)
- Industrial air emissions, and proximity to major industrial emitters, are associated with anti‐citrullinated protein antibodies (2017) (24)
- Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (22)
- Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. (2016) (20)
- estimating recombination from gene sequences (2001) (19)
- Selective constraint, background selection, and mutation accumulation variability within and between human populations (2013) (18)
- A Family-Based Probabilistic Method for Capturing De Novo Mutations from High-Throughput Short-Read Sequencing Data (2012) (17)
- Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
- Similarity in Recombination Rate Estimates Highly Correlates with Genetic Differentiation in Humans (2011) (17)
- Aberrant PRDM9 expression impacts the pan-cancer genomic landscape (2018) (17)
- Global biobank analyses provide lessons for computing polygenic risk scores across diverse cohorts (2021) (17)
- Pan-cancer study of heterogeneous RNA aberrations (2017) (16)
- Genomic architecture of sickle cell disease in West African children (2014) (15)
- Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010) (13)
- Evaluation of Adiposity and Cognitive Function in Adults (2022) (13)
- Long-term exposure to a mixture of industrial SO2, NO2, and PM2.5 and anti-citrullinated protein antibody positivity (2020) (12)
- Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing (2019) (12)
- Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood (2018) (12)
- Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control (2021) (11)
- Refining Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Genetic Loci by Integrating Summary Data From Genome-wide Association, Gene Expression, and DNA Methylation Studies (2020) (11)
- Effect of Cognitive Reserve on the Association of Vascular Brain Injury With Cognition (2021) (10)
- Cardiovascular risk scoring and magnetic resonance imaging detected subclinical cerebrovascular disease (2019) (10)
- Building knowledge, optimising physical and mental health and setting up healthier life trajectories in South African women (Bukhali): a preconception randomised control trial part of the Healthy Life Trajectories Initiative (HeLTI) (2022) (9)
- Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study. (2020) (8)
- A haplotype-based normalization technique for the analysis and detection of allele specific expression (2016) (8)
- Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury (2020) (8)
- Selection shapes malaria genomes and drives divergence between pathogens infecting hominids versus rodents (2008) (8)
- Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin (2022) (8)
- The cell-free DNA methylome captures distinctions between localized and metastatic prostate tumors (2022) (7)
- Comparative Analysis of Iron Homeostasis in Sub-Saharan African Children with Sickle Cell Disease and Their Unaffected Siblings (2016) (6)
- Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing (2020) (6)
- Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences (2019) (6)
- Interacting evolutionary pressures drive mutation dynamics and health outcomes in aging blood (2020) (6)
- Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts (2023) (5)
- Lung adenocarcinoma promotion by air pollutants (2023) (3)
- Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath) (2022) (3)
- Psychosocial factors and cancer incidence (PSY‐CA): Protocol for individual participant data meta‐analyses (2021) (2)
- Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria (2018) (2)
- Recombination affects allele-specific expression of deleterious variants in human populations (2022) (2)
- 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 (2022) (2)
- Motif Disruption Domains Lead To Cancer Gene Expression Rewiring (2017) (2)
- Polygenic risk scores predict diabetic complications and their response to therapy (2019) (2)
- Selective constraint, background selection, and mutation accumulation variability within and between human populations (2013) (1)
- The Canadian Alliance for Healthy Hearts and Minds: How Well Does It Reflect the Canadian Population? (2020) (1)
- Inferring ongoing cancer evolution from single tumour biopsies using synthetic supervised learning (2021) (1)
- Genomic and Environmental Contributions to Chronic Diseases in Urban Populations (2017) (1)
- Using image-based haplotype alignments to map global adaptation of SARS-CoV-2 (2021) (1)
- Author Correction: Pan-cancer analysis of whole genomes (2023) (1)
- Abstract SY10-02: Pan-cancer study of recurrent and heterogeneous RNA aberrations and association with whole-genome variants (2017) (1)
- Hypervariable antigen genes in malaria have ancient roots (2013) (1)
- Pan-cancer classification of single cells in the tumour microenvironment (2022) (1)
- Cohort Profile: The Ontario Health Study (OHS). (2022) (0)
- Abstract 2602: Leveraging cell-free methylome markers for early cancer detection (2021) (0)
- Gene-by-environment interactions in urban populations modulate risk phenotypes (2018) (0)
- Publisher Correction: Identification of 371 genetic variants for age at first sex and birth linked to externalising behavior (2021) (0)
- 70 17q21.31 CNV DOSE DEPENDENT EFFECT ON THE PREVALENCE OF HYPERTENSION AND DYSLIPIDEMIA COMORBIDITY (2012) (0)
- Abstract 3385: Pre-diagnosis plasma cell-free DNA methylation profiling reveals signatures of cancers up to7 years prior to clinical detection (2022) (0)
- Abstract 1221: Comprehensive cell-type classification of tumor and normal cells from single cell RNA sequencing in pan cancer settings (2022) (0)
- P-13 The Utility of Occupational Health Data in the Canadian Partnership for Tomorrow’s Health (CanPath) (2021) (0)
- Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada. (2022) (0)
- Score tests for scale effects, with application to genomic analysis (2021) (0)
- Correction to: Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control (2021) (0)
- Author Correction: Inferring structural variant cancer cell fraction (2022) (0)
- Genomic basis for RNA alterations in cancer (2020) (0)
- Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes (2018) (0)
- 798 Hypertensive patients are more at risk of developing osteoporosis and having fractures due to their low bone mineral density (2012) (0)
- Linkage Mapping and Whole-Exome Sequencing in a Family With Left Ventricular Outflow Tract Obstruction (2013) (0)
- High-depth African genomes inform human migration and health (2020) (0)
- 133 - The Canadian Partnership for Tomorrow Project: Canada’s Longitudinal Population Laboratory (2019) (0)
- CKD PATHOPHYSIOLOGY AND CLINICAL STUDIES (2014) (0)
- The molecular evolution of self-incompatibility loci in the Brassicaceae family (2000) (0)
- The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort (2021) (0)
- A haplotype-based normalization technique for the analysis and detection of allele specific expression (2016) (0)
- Pre-diagnosis plasma cell-free DNA methylome profiling up to seven years prior to clinical detection reveals early signatures of breast cancer (2023) (0)
- Recombination and Its Role in the Evolution of Pathogenic Microbes (2006) (0)
- Clonal Hematopoiesis and COVID-19 Severity in Cancer Patients (2020) (0)
- Opposing Evolutionary Pressures Drive Clonal Evolution and Health Outcomes in the Aging Blood System (2020) (0)
- Recombination impacts damaging and disease mutation accumulation in human populations (2014) (0)
- Composite Effects of Rare Variants in a Novel X-Linked Form of Congenital Heart Disease in the Québec Founder Population (2013) (0)
- Author Correction: Genomic basis for RNA alterations in cancer (2023) (0)
- Abstract 6090: Disentangling subclonal dynamics in growing tumors using stochastic simulations and Bayesian neural networks (2022) (0)
- The relationship between reproductive lifespan and coronary artery disease (2021) (0)
- Correction: Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease (2013) (0)
- 3229 – MODELING CLONAL HEMATOPOIESIS AND THE PRE-LEUKEMIC STATE WITH CHR13Q DELETION IN HUMAN HEMATOPOIETIC STEM CELLS (2022) (0)
- Impact of Rare Genetic Variations on Left Ventricular Outflow Tract Obstruction: Lessons From Whole Exome Sequencing (2013) (0)
- eQTLGen Consortium (2018). Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes. (2018) (0)
- Understanding the evolution of tumours using hybrid deep generative models (2022) (0)
- Abstract 2228: A multi-omic perspective of how selection shapes blood cancer risk phenotypes in aging populations (2022) (0)
- Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing (2019) (0)
- Unique patterns of recombination shape var gene structures and repertoires in P. falciparum (2006) (0)
- Psychosocial factors and cancer incidence (PSY-CA): Protocol for individual participant datameta-analyses (2021) (0)
- Correction to: Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath) (2022) (0)
- URINARY UROMODULIN IN A PATHWAY BETWEEN DECREASED URINARY URIC ACID EXCRETION AND ALBUMINURIA (2018) (0)
- Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples (2020) (0)
- Author Correction: Patterns of somatic structural variation in human cancer genomes (2020) (0)
- Prediction of acute myeloid leukaemia risk in healthy individuals (2018) (0)
- Author Correction: The evolutionary history of 2,658 cancers (2023) (0)
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Philip Awadalla is affiliated with the following schools:
