Marylyn D. Ritchie
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Professor of Genetics
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Why Is Marylyn D. Ritchie Influential?
(Suggest an Edit or Addition)According to Wikipedia, Marylyn D. Ritchie is a Professor of Genetics, the Director of the Center for Translational Bioinformatics, the Associate Director for Bioinformatics in the Institute for Biomedical Informatics, and the Associate Director of the Center for Precision Medicine, at the University of Pennsylvania's Perelman School of Medicine.
Marylyn D. Ritchie'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
- Genetic studies of body mass index yield new insights for obesity biology (2015) (3549)
- Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. (2001) (1843)
- Defining the role of common variation in the genomic and biological architecture of adult human height (2014) (1805)
- Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals (2018) (1401)
- New genetic loci link adipose and insulin biology to body fat distribution (2014) (1227)
- Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions (2003) (1125)
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations (2010) (893)
- Methods of integrating data to uncover genotype–phenotype interactions (2015) (764)
- Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data (2013) (763)
- The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies (2011) (665)
- The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future (2013) (596)
- Genetic determinants of response to warfarin during initial anticoagulation. (2008) (581)
- Power of multifactor dimensionality reduction for detecting gene‐gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity (2003) (552)
- Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease (2017) (537)
- Meta-analysis identifies six new susceptibility loci for atrial fibrillation (2012) (535)
- A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. (2008) (455)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study (2016) (445)
- Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans (2006) (386)
- Renin-Angiotensin System Gene Polymorphisms and Atrial Fibrillation (2004) (374)
- Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease. (2016) (372)
- A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction (2007) (366)
- Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (2005) (346)
- Quality Control Procedures for Genome‐Wide Association Studies (2011) (330)
- Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. (2010) (316)
- Genetic identification of familial hypercholesterolemia within a single U.S. health care system (2016) (307)
- PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study (2017) (283)
- Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization (2014) (260)
- Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. (2011) (248)
- The phenotypic legacy of admixture between modern humans and Neandertals (2016) (235)
- Basic Statistics (2003) (229)
- Optimization of neural network architecture using genetic programming improves detection and modeling of gene-gene interactions in studies of human diseases (2003) (224)
- Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study (2013) (212)
- Machine Learning for Detecting Gene-Gene Interactions (2006) (202)
- Multifactor-dimensionality reduction shows a two-locus interaction associated with Type 2 diabetes mellitus (2004) (198)
- Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems (2014) (196)
- Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma (2015) (190)
- Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study (2005) (167)
- Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk (2013) (163)
- Multilocus Analysis of Hypertension: A Hierarchical Approach (2004) (160)
- The Next PAGE in Understanding Complex Traits: Design for the Analysis of Population Architecture Using Genetics and Epidemiology (PAGE) Study (2011) (158)
- Visualizing genomic information across chromosomes with PhenoGram (2013) (157)
- A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes (2012) (156)
- Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. (2016) (155)
- Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network (2013) (152)
- The use of phenome‐wide association studies (PheWAS) for exploration of novel genotype‐phenotype relationships and pleiotropy discovery (2011) (152)
- Multifactor dimensionality reduction: An analysis strategy for modelling and detecting gene - gene interactions in human genetics and pharmacogenomics studies (2006) (152)
- Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network (2016) (149)
- Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants (2018) (147)
- STUDENTJAMA. The challenges of whole-genome approaches to common diseases. (2004) (145)
- Effect of CYP2B6, ABCB1, and CYP3A5 polymorphisms on efavirenz pharmacokinetics and treatment response: an AIDS Clinical Trials Group study. (2010) (141)
- An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene Interactions on risk of myocardial infarction: The importance of model validation (2004) (141)
- Biofilter: A Knowledge-Integration System for the Multi-Locus Analysis of Genome-Wide Association Studies (2008) (135)
- Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci (2017) (135)
- Identification of Genomic Predictors of Atrioventricular Conduction: Using Electronic Medical Records as a Tool for Genome Science (2010) (133)
- A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (130)
- Genome-wide association study of plasma efavirenz pharmacokinetics in AIDS Clinical Trials Group protocols implicates several CYP2B6 variants (2012) (130)
- Imputation and quality control steps for combining multiple genome-wide datasets (2014) (130)
- The power of genetic diversity in genome-wide association studies of lipids (2021) (129)
- Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network (2012) (123)
- Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. (2017) (121)
- Whole-genome sequencing reveals host factors underlying critical COVID-19 (2022) (120)
- Pleiotropic genes for metabolic syndrome and inflammation. (2014) (118)
- Comparison of approaches for machine‐learning optimization of neural networks for detecting gene‐gene interactions in genetic epidemiology (2008) (113)
- Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. (2006) (111)
- Variation in the 4q25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (110)
- A novel method to identify gene–gene effects in nuclear families: the MDR‐PDT (2006) (110)
- Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. (2005) (109)
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network (2012) (107)
- Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis (2015) (106)
- Single-nucleotide polymorphisms for diagnosis of salt-sensitive hypertension. (2006) (106)
- The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients (2012) (104)
- Subsets of the Major Tyrosine Phosphorylation Sites in Crk-associated Substrate (CAS) Are Sufficient to Promote Cell Migration* (2004) (104)
- Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record. (2012) (100)
- GPNN: Power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease (2006) (97)
- Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation. (2007) (96)
- Renin-angiotensin system gene polymorphisms and coronary artery disease in a large angiographic cohort: detection of high order gene-gene interaction. (2007) (95)
- A Phenomics-Based Strategy Identifies Loci on APOC1, BRAP, and PLCG1 Associated with Metabolic Syndrome Phenotype Domains (2011) (94)
- Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects (2018) (93)
- Informatics and Data Analytics to Support Exposome-Based Discovery for Public Health. (2017) (92)
- Kinetic characterization of a cytoplasmic myosin motor domain expressed in Dictyostelium discoideum. (1993) (91)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (91)
- Using Biological Knowledge to Uncover the Mystery in the Search for Epistasis in Genome‐Wide Association Studies (2011) (91)
- Multifactor dimensionality reduction for detecting gene-gene and gene-environment interactions in pharmacogenomics studies. (2005) (90)
- GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network (2019) (89)
- Model‐Based Multifactor Dimensionality Reduction for detecting epistasis in case–control data in the presence of noise (2011) (87)
- Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records (2010) (84)
- Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy. (2009) (83)
- Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. (2012) (82)
- Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. (2018) (82)
- A Systematic Mapping Approach of 16q12.2/FTO and BMI in More Than 20,000 African Americans Narrows in on the Underlying Functional Variation: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study (2013) (80)
- Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin (2011) (78)
- Knowledge boosting: a graph-based integration approach with multi-omics data and genomic knowledge for cancer clinical outcome prediction (2014) (77)
- Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants. (2019) (77)
- Nephrocystin-conserved Domains Involved in Targeting to Epithelial Cell-Cell Junctions, Interaction with Filamins, and Establishing Cell Polarity* (2002) (77)
- Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis (2014) (76)
- Fine Mapping and Identification of BMI Loci in African Americans. (2013) (75)
- Multilocus genetic interactions and response to efavirenz-containing regimens: an Adult AIDS Clinical Trials Group study (2006) (75)
- A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data (2012) (73)
- Genetic risk factors for body mass index and obesity in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) Study (2012) (72)
- Data Simulation Software for Whole-Genome Association and Other Studies in Human Genetics (2005) (72)
- Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality (2011) (71)
- Immunogenetics of CD4 lymphocyte count recovery during antiretroviral therapy: An AIDS Clinical Trials Group study. (2006) (71)
- eMERGEing progress in genomics—the first seven years (2014) (71)
- Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry. (2019) (69)
- Genetic variants associated with angiotensin-converting enzyme inhibitor-associated angioedema (2013) (68)
- Electronic health records and polygenic risk scores for predicting disease risk (2020) (66)
- Parallel multifactor dimensionality reduction: a tool for the large-scale analysis of gene-gene interactions (2006) (65)
- Characterization of the equilibrium between blocked and closed states of muscle thin filaments. (1995) (65)
- Genetic programming neural networks: A powerful bioinformatics tool for human genetics (2007) (65)
- A saturated map of common genetic variants associated with human height (2022) (65)
- Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction (2008) (64)
- Knowledge-Driven Multi-Locus Analysis Reveals Gene-Gene Interactions Influencing HDL Cholesterol Level in Two Independent EMR-Linked Biobanks (2011) (64)
- Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study. (2013) (63)
- PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (61)
- Next generation analytic tools for large scale genetic epidemiology studies of complex diseases (2012) (61)
- Application Of Genetic Algorithms To The Discovery Of Complex Models For Simulation Studies In Human Genetics (2002) (61)
- The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation. (2018) (61)
- Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. (2011) (61)
- The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy (2008) (60)
- Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy (2006) (60)
- Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index (2014) (60)
- Novel methods for detecting epistasis in pharmacogenomics studies. (2007) (60)
- Global increases in both common and rare copy number load associated with autism (2013) (60)
- Finding Unique Filter Sets in PLATO: A Precursor to Efficient Interaction Analysis in GWAS Data (2010) (60)
- Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals (2021) (59)
- Genetic variation associated with circulating monocyte count in the eMERGE Network. (2013) (59)
- Genetic analysis of biological pathway data through genomic randomization (2011) (59)
- A comparison of analytical methods for genetic association studies (2008) (59)
- Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. (2019) (58)
- PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. (2018) (58)
- Detection of Pleiotropy through a Phenome-Wide Association Study (PheWAS) of Epidemiologic Data as Part of the Environmental Architecture for Genes Linked to Environment (EAGLE) Study (2014) (58)
- LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins (2018) (58)
- Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. (2014) (57)
- Design and Implementation of the International Genetics and Translational Research in Transplantation Network (2015) (56)
- ATHENA: Identifying interactions between different levels of genomic data associated with cancer clinical outcomes using grammatical evolution neural network (2013) (56)
- The effect of reduction in cross‐validation intervals on the performance of multifactor dimensionality reduction (2006) (55)
- Multifactor dimensionality reduction reveals gene–gene interactions associated with multiple sclerosis susceptibility in African Americans (2006) (54)
- Generating Linkage Disequilibrium Patterns in Data Simulations Using genomeSIMLA (2008) (53)
- Genetic variation in the HLA region is associated with susceptibility to herpes zoster (2014) (53)
- Genome Wide Analysis of Drug-Induced Torsades de Pointes: Lack of Common Variants with Large Effect Sizes (2013) (53)
- Routine discovery of complex genetic models using genetic algorithms (2004) (52)
- FAM-MDR: A Flexible Family-Based Multifactor Dimensionality Reduction Technique to Detect Epistasis Using Related Individuals (2010) (52)
- Investigation of potential gene–gene interactions between apoe and reln contributing to autism risk (2007) (49)
- The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype (2018) (48)
- Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants (2017) (48)
- A simulation study investigating power estimates in phenome-wide association studies (2017) (48)
- Machine Learning for Detecting Gene-Gene Interactions: A Review (2011) (47)
- Persistent atrial fibrillation is associated with reduced risk of torsades de pointes in patients with drug-induced long QT syndrome. (2008) (47)
- European mitochondrial DNA haplogroups and metabolic changes during antiretroviral therapy in AIDS Clinical Trials Group Study A5142* (2011) (47)
- Pharmacogenomic Polygenic Response Score Predicts Ischemic Events and Cardiovascular Mortality in Clopidogrel-Treated Patients. (2019) (47)
- ATHENA: A knowledge-based hybrid backpropagation-grammatical evolution neural network algorithm for discovering epistasis among quantitative trait Loci (2010) (47)
- The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era (2012) (47)
- COVID-19 outcomes and the human genome (2020) (46)
- Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. (2012) (46)
- High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant in APOE (2012) (46)
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies (2015) (46)
- Polygenic heritability estimates in pharmacogenetics: focus on asthma and related phenotypes (2013) (44)
- Finding the epistasis needles in the genome-wide haystack. (2015) (44)
- ATHENA: the analysis tool for heritable and environmental network associations (2014) (44)
- Genomic analyses with biofilter 2.0: knowledge driven filtering, annotation, and model development (2013) (43)
- African mitochondrial DNA subhaplogroups and peripheral neuropathy during antiretroviral therapy. (2010) (43)
- An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3 (2009) (43)
- Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis (2010) (42)
- Using knowledge-driven genomic interactions for multi-omics data analysis: metadimensional models for predicting clinical outcomes in ovarian carcinoma (2017) (42)
- Integrating heterogeneous high-throughput data for meta-dimensional pharmacogenomics and disease-related studies. (2012) (42)
- Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View (2012) (42)
- Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network (2015) (42)
- Genetic Variants That Confer Resistance to Malaria Are Associated with Red Blood Cell Traits in African-Americans: An Electronic Medical Record-based Genome-Wide Association Study (2013) (42)
- Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium (2016) (41)
- Analysis pipeline for the epistasis search – statistical versus biological filtering (2014) (41)
- Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing (2017) (41)
- Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program (2020) (41)
- Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals (2018) (41)
- Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium (2016) (41)
- Pharmacogenomics Clinical Annotation Tool (PharmCAT) (2019) (41)
- Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease (2022) (40)
- Estrogens, Enzyme Variants, and Breast Cancer: A Risk Model (2006) (40)
- Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank. (2013) (40)
- BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge (2013) (39)
- Faculty Opinions recommendation of Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks. (2012) (39)
- Genetic Variation and Reproductive Timing: African American Women from the Population Architecture Using Genomics and Epidemiology (PAGE) Study (2013) (39)
- A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes (2019) (39)
- Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes (2006) (38)
- Identification of a two-loci epistatic interaction associated with susceptibility to rheumatoid arthritis through reverse engineering and multifactor dimensionality reduction. (2007) (37)
- Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery (2015) (37)
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms (2016) (37)
- The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era (2012) (36)
- Large-scale genome-wide association study of coronary artery disease in genetically diverse populations (2022) (36)
- Low Frequency Variants, Collapsed Based on Biological Knowledge, Uncover Complexity of Population Stratification in 1000 Genomes Project Data (2013) (36)
- Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network (2014) (35)
- The joint effect of air pollution exposure and copy number variation on risk for autism (2017) (35)
- PharmCAT: A Pharmacogenomics Clinical Annotation Tool (2017) (35)
- Genomewide association study of atazanavir pharmacokinetics and hyperbilirubinemia in AIDS Clinical Trials Group protocol A5202 (2014) (35)
- Genetic Programming Neural Networks as a Bioinformatics Tool for Human Genetics (2004) (35)
- Bisphosphorylation of cardiac troponin I modulates the Ca2+‐dependent binding of myosin subfragment S1 to reconstituted thin filaments (1996) (35)
- Expectations and challenges stemming from genome-wide association studies. (2008) (34)
- Phenome-wide Association Study Relating Pretreatment Laboratory Parameters With Human Genetic Variants in AIDS Clinical Trials Group Protocols (2014) (34)
- Targeting the Coronavirus Nucleocapsid Protein through GSK-3 Inhibition (2021) (34)
- ABCB1 and GST polymorphisms associated with TP53 status in breast cancer (2007) (34)
- Exploring the Performance of Multifactor Dimensionality Reduction in Large Scale SNP Studies and in the Presence of Genetic Heterogeneity among Epistatic Disease Models (2008) (34)
- Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci (2014) (34)
- A knowledge-driven interaction analysis reveals potential neurodegenerative mechanism of multiple sclerosis susceptibility (2010) (33)
- Polygenic Inheritance of Paclitaxel-Induced Sensory Peripheral Neuropathy Driven by Axon Outgrowth Gene Sets in CALGB 40101 (Alliance) (2014) (33)
- Predicting censored survival data based on the interactions between meta-dimensional omics data in breast cancer (2015) (33)
- Comparison of Neural Network Optimization Approaches for Studies of Human Genetics (2006) (33)
- Informatics and machine learning to define the phenotype (2018) (33)
- Generalization of Variants Identified by Genome‐Wide Association Studies for Electrocardiographic Traits in African Americans (2013) (32)
- Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. (2007) (32)
- Actomyosin kinetics and in vitro motility of wild-type Drosophila actin and the effects of two mutations in the Act88F gene. (1995) (31)
- Inactivating Variants in ANGPTL 4 and Risk of Coronary Artery Disease (2016) (31)
- Celebrating parasites (2017) (30)
- Power of grammatical evolution neural networks to detect gene-gene interactions in the presence of error (2008) (30)
- eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants (2016) (29)
- How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures? (2018) (29)
- Grammatical Evolution of Neural Networks for Discovering Epistasis among Quantitative Trait Loci (2010) (29)
- Genome-wide study of resistant hypertension identified from electronic health records (2017) (28)
- Diverse convergent evidence in the genetic analysis of complex disease: coordinating omic, informatic, and experimental evidence to better identify and validate risk factors (2014) (28)
- First Trimester Plasma Glucose Values in Women without Diabetes are Associated with Risk for Congenital Heart Disease in Offspring (2017) (28)
- PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies (2017) (28)
- Using prior knowledge and genome-wide association to identify pathways involved in multiple sclerosis (2009) (28)
- Probing the Virtual Proteome to Identify Novel Disease Biomarkers (2018) (28)
- A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
- Embracing Complex Associations in Common Traits: Critical Considerations for Precision Medicine. (2016) (27)
- Filling the gap between biology and computer science (2008) (27)
- Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations (2021) (26)
- Genetics of height and risk of atrial fibrillation: A Mendelian randomization study (2019) (26)
- Incorporating inter-relationships between different levels of genomic data into cancer clinical outcome prediction. (2014) (26)
- The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research (2015) (26)
- Neural networks for genetic epidemiology: past, present, and future (2008) (26)
- Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9 (2018) (25)
- Evaluation of PrediXcan for prioritizing GWAS associations and predicting gene expression1* (2017) (25)
- From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries (2021) (25)
- Next-Generation Analysis of Cataracts: Determining Knowledge Driven Gene-Gene Interactions Using Biofilter, and Gene-Environment Interactions Using the PhenX Toolkit (2012) (25)
- Medical records-based chronic kidney disease phenotype for clinical care and “big data” observational and genetic studies (2021) (25)
- Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci (2017) (25)
- Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER (2012) (25)
- Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study. (2013) (25)
- Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records. (2013) (24)
- Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing. (2007) (24)
- Identification of unique venous thromboembolism-susceptibility variants in African-Americans (2017) (24)
- Leveraging Epidemiologic and Clinical Collections for Genomic Studies of Complex Traits (2015) (24)
- Bioinformatics approaches for detecting gene-gene and gene-environment interactions in studies of human disease. (2005) (23)
- Use of Biological Knowledge to Inform The Analysis of Gene-Gene Interactions Involved in Modulating Virologic Failure with Efavirenz-Containing Treatment Regimens in Art-Naive Actg Clinical Trials Participants (2011) (23)
- Genomic architecture of pharmacological efficacy and adverse events. (2014) (23)
- Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia (2008) (23)
- A GWAS Study on Liver Function Test Using eMERGE Network Participants (2015) (23)
- Risk Factor Interactions and Genetic Effects Associated with Post-Operative Atrial Fibrillation (2005) (23)
- Genome‐wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points—Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC) (2017) (22)
- Disrupting upstream translation in mRNAs is associated with human disease (2021) (22)
- Rates of COVID-19–Related Outcomes in Cancer Compared With Noncancer Patients (2021) (22)
- Initialization parameter sweep in ATHENA: optimizing neural networks for detecting gene-gene interactions in the presence of small main effects (2010) (22)
- Genomewide Association Study of Platelet Reactivity and Cardiovascular Response in Patients Treated With Clopidogrel: A Study by the International Clopidogrel Pharmacogenomics Consortium (2020) (22)
- Knowledge-driven genomic interactions: an application in ovarian cancer (2014) (22)
- Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study (2013) (22)
- Incorporation of Biological Knowledge Into the Study of Gene-Environment Interactions (2017) (22)
- Collective feature selection to identify crucial epistatic variants (2018) (22)
- Regulatory Polymorphisms in Human DBH Affect Peripheral Gene Expression and Sympathetic Activity (2014) (21)
- ATHENA: A Tool for Meta-Dimensional Analysis Applied to Genotypes and Gene Expression Data to Predict HDL Cholesterol Levels (2012) (21)
- Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases (2016) (21)
- Mitochondrial Genomics and CD4 T-Cell Count Recovery After Antiretroviral Therapy Initiation in AIDS Clinical Trials Group Study 384 (2011) (21)
- Ideas for how informaticians can get involved with COVID-19 research (2020) (21)
- Genetic Simulation Tools for Post‐Genome Wide Association Studies of Complex Diseases (2015) (21)
- Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms (2016) (20)
- Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity (2021) (20)
- Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease (2020) (20)
- Preparing next-generation scientists for biomedical big data: artificial intelligence approaches. (2019) (20)
- Association of haplotypes of inflammation‐related genes with gastric preneoplastic lesions in African Americans and Caucasians (2011) (20)
- Characterizing Heterogeneity in Neuroimaging, Cognition, Clinical Symptoms, and Genetics Among Patients With Late-Life Depression. (2022) (20)
- Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data (2013) (19)
- Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network (2015) (19)
- Genetic Programming Theory and Practice X (2013) (19)
- Current Scope and Challenges in Phenome-Wide Association Studies (2017) (19)
- A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (19)
- Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico (2019) (19)
- Efavirenz Pharmacogenetics and Weight Gain following Switch to Integrase Inhibitor-containing Regimens. (2020) (19)
- Rule based classifier for the analysis of gene-gene and gene-environment interactions in genetic association studies (2011) (19)
- Enhancing the Power of Genetic Association Studies through the Use of Silver Standard Cases Derived from Electronic Medical Records (2013) (19)
- Targeting the coronavirus nucleocapsid protein through GSK-3 inhibition (2021) (18)
- Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative (2020) (18)
- Common genetic variants identify therapeutic targets for COVID-19 and individuals at high risk of severe disease (2020) (17)
- Understanding the Evolutionary Process of Grammatical Evolution Neural Networks for Feature Selection in Genetic Epidemiology (2006) (17)
- The effects of linkage disequilibrium in large scale SNP datasets for MDR (2011) (17)
- Meta-analysis fine-mapping is often miscalibrated at single-variant resolution (2022) (17)
- Binning Somatic Mutations Based on Biological Knowledge for Predicting Survival: An Application in Renal Cell Carcinoma (2014) (17)
- Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries (2022) (17)
- Genetic heterogeneity is not as threatening as you might think (2007) (17)
- Genetic risk factors for BMI and obesity in an ethnically diverse population (2012) (16)
- Genetically downregulated interleukin-6 signaling is associated with a favorable cardiometabolic profile: a phenome-wide association study (2020) (16)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (16)
- Integrating Clinical Laboratory Measures and ICD-9 Code Diagnoses in Phenome-Wide Association Studies (2016) (16)
- Phenome-Wide Association Studies: Embracing Complexity for Discovery (2015) (16)
- Variation in the 4 q 25 Chromosomal Locus Predicts Atrial Fibrillation After Coronary Artery Bypass Graft Surgery (2009) (16)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies. (2020) (16)
- Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies (2014) (16)
- Visual Integration of Results from a Large Dna Biobank (Biovu) Using Synthesis-View (2011) (16)
- Methods for analysis in pharmacogenomics: lessons from the Pharmacogenetics Research Network Analysis Group. (2009) (15)
- Rare variants in drug target genes contributing to complex diseases, phenome-wide (2018) (15)
- Human genomic association studies: a primer for the infectious diseases specialist. (2007) (15)
- Using BioBin to Explore Rare Variant Population Stratification (2012) (15)
- Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network (2015) (15)
- Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records (2014) (15)
- Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations (2016) (15)
- Problems with genome-wide association studies. (2007) (15)
- Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease (2022) (15)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (15)
- Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. (2017) (14)
- Clinical applications of whole-genome association studies: future applications at the bedside (2006) (14)
- A General Framework for Formal Tests of Interaction after Exhaustive Search Methods with Applications to MDR and MDR-PDT (2010) (14)
- Pharmacogenomics of HIV Therapy: Summary of a Workshop Sponsored by the National Institute of Allergy and Infectious Diseases (2011) (14)
- Alternative cross-over strategies and selection techniques for grammatical evolution optimized neural networks (2006) (14)
- Polygenic Risk of Psychiatric Disorders Exhibits Cross-trait Associations in Electronic Health Record Data From European Ancestry Individuals (2020) (14)
- Admixture Mapping and Subsequent Fine-Mapping Suggests a Biologically Relevant and Novel Association on Chromosome 11 for Type 2 Diabetes in African Americans (2014) (14)
- Mitochondrial DNA variation and changes in adiponectin and endothelial function in HIV-infected adults after antiretroviral therapy initiation. (2013) (13)
- Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer’s disease (2017) (13)
- CLARITE Facilitates the Quality Control and Analysis Process for EWAS of Metabolic-Related Traits (2019) (13)
- Interdisciplinary training to build an informatics workforce for precision medicine (2015) (13)
- Identifying Genetic Associations with Variability in Metabolic Health and Blood Count Laboratory Values: Diving into the Quantitative Traits by Leveraging Longitudinal Data from an EHR (2017) (13)
- Can Neural Network Constraints in GP Provide Power to Detect Genes Associated with Human Disease? (2005) (12)
- Enabling high-throughput genotype-phenotype associations in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project as part of the Population Architecture using Genomics and Epidemiology (PAGE) study. (2012) (12)
- Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network (2018) (12)
- Genome simulation approaches for synthesizing in silico datasets for human genomics. (2010) (12)
- Knowledge Driven Binning and PheWAS Analysis in Marshfield Personalized Medicine Research Project Using BioBin (2016) (12)
- A Graph-Based Integration of Multimodal Brain Imaging Data for the Detection of Early Mild Cognitive Impairment (E-MCI) (2013) (12)
- A biologically informed method for detecting rare variant associations (2016) (12)
- Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias. (2009) (12)
- Large-Scale Analysis of Genetic and Clinical Patient Data (2018) (12)
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts (2017) (12)
- Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis. (2011) (12)
- A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans (2019) (12)
- Exploring epistasis in candidate genes for rheumatoid arthritis (2007) (12)
- LD-Spline: Mapping SNPs on genotyping platforms to genomic regions using patterns of linkage disequilibrium (2009) (11)
- A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (11)
- Comparison of Methods for Meta-dimensional Data Analysis Using in Silico and Biological Data Sets (2012) (11)
- Evidence for extensive pleiotropy among pharmacogenes. (2016) (11)
- High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease (2022) (11)
- Abstract 1971: Genome-wide Association Study Identifies Novel Genomic Regions Associated With Drug-induced Long Qt Syndrome (2009) (10)
- Tissue specificity-aware TWAS (TSA-TWAS) framework identifies novel associations with metabolic, immunologic, and virologic traits in HIV-positive adults (2020) (10)
- Characterization of the Metabochip in diverse populations from the International HapMap Project in the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) project. (2012) (10)
- Conquering the Needle-in-a-Haystack: How Correlated Input Variables Beneficially Alter the Fitness Landscape for Neural Networks (2009) (10)
- A catalog of associations between rare coding variants and COVID-19 outcomes (2020) (10)
- Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19 (2021) (10)
- A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies (2019) (10)
- High heritability of ascending aortic diameter and multi-ethnic prediction of thoracic aortic disease. (2020) (10)
- Genome wide-association study identifies novel loci in the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study (2020) (10)
- eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals (2021) (10)
- Methods for optimizing statistical analyses in pharmacogenomics research (2009) (9)
- Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits (2020) (9)
- A unified framework identifies novel links between plasma lipids and diseases from electronic medical records across large-scale cohorts (2021) (9)
- Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus (2010) (9)
- Pathway analysis by randomization incorporating structure - PARIS: an update (2016) (9)
- Translational Bioinformatics: Biobanks in the Precision Medicine Era (2019) (9)
- Regulation of cAMP levels in area CA1 of hippocampus by Gi/o-coupled receptors is stimulus dependent in mice (2004) (9)
- Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202 (2017) (8)
- Genetic Determinants of Response to Warfarin During Initial Anticoagulation (2008) (8)
- A cross‐validation procedure for general pedigrees and matched odds ratio fitness metric implemented for the multifactor dimensionality reduction pedigree disequilibrium test (2010) (8)
- Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network (2016) (8)
- Novel features and enhancements in BioBin, a tool for the biologically inspired binning and association analysis of rare variants (2017) (8)
- Contrasting Association Results Between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes (2015) (8)
- Association Rule Discovery Has the Ability to Model Complex Genetic Effects (2007) (7)
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals (2017) (7)
- Rates of COVID-19-related Outcomes in Cancer compared to non-Cancer Patients (2020) (7)
- A large-scale multi-ethnic genome-wide association study of coronary artery disease (2021) (7)
- Inpatient Rehabilitation Outcomes After Severe COVID-19 Infections (2021) (7)
- Pacific Symposium on Biocomputing--computational approaches for pharmacogenomics. (2005) (7)
- Linkage Disequilibrium in Genetic Association Studies Improves the Performance of Grammatical Evolution Neural Networks (2007) (7)
- Discovering patterns of pleiotropy in genome-wide association studies (2018) (7)
- Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank (2021) (6)
- Mitochondrial DNA Haplogroups and Frailty in Adults Living with HIV. (2019) (6)
- Abstract 4412: High Density tagSNP Candidate Gene Analysis Identifies IKs as a Major Modulator of Genetic Susceptibility to Drug Induced Long QT Syndrome (2008) (6)
- Methods to analyze big data in pharmacogenomics research. (2017) (6)
- Biocomputing '97 - Proceedings of the Pacific Symposium (1996) (6)
- Another Round of “Clue” to Uncover the Mystery of Complex Traits (2018) (6)
- Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes (2017) (6)
- A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program (2021) (6)
- ATHENA Optimization: The Effect of Initial Parameter Settings across Different Genetic Models (2011) (6)
- Influence of tissue context on gene prioritization for predicted transcriptome-wide association studies (2018) (6)
- Research on COVID-19 through patient-reported data: a survey for observational studies in the COVID-19 pandemic (2020) (6)
- A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids (2021) (6)
- Schizophrenia Imaging Signatures and Their Associations With Cognition, Psychopathology, and Genetics in the General Population. (2022) (6)
- Phenome-Wide Interaction Study (PheWIS) in Aids Clinical Trials Group Data (ACTG) (2016) (5)
- Tribe: The collaborative platform for reproducible web-based analysis of gene sets (2016) (5)
- CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease. (2019) (5)
- Learning Phenotype Mapping for Integrating Large Genetic Data (2011) (5)
- Genetic liability for substance use associated with medical comorbidities in electronic health records of African‐ and European‐ancestry individuals (2021) (5)
- A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program (2022) (5)
- Genome-and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk Running title : Ritchie et al . ; QRS GWAS and PheWAS in electronic records (2013) (5)
- hudson: A User-Friendly R Package to Extend Manhattan Plots (2022) (4)
- Why Is the Electronic Health Record So Challenging for Research and Clinical Care? (2021) (4)
- P1-22: Persistent atrial fibrillation is associated with reduced risk of Torsades de Pointes in patients with drug-induced long QT syndrome (2006) (4)
- Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults (2021) (4)
- Brain neurotransmitter transporter/receptor genomics and efavirenz central nervous system adverse events (2018) (4)
- Genetic risk models: Influence of model size on risk estimates and precision (2017) (4)
- A balanced accuracy fitness function leads to robust analysis using grammatical evolution neural networks in the case of class imbalance (2008) (4)
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis (2020) (4)
- The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population (2022) (3)
- Biofilter as a Functional Annotation Pipeline for Common and Rare Copy Number Burden (2016) (3)
- Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes (2019) (3)
- Faculty Opinions recommendation of Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression. (2012) (3)
- Up For A Challenge (U4C): Stimulating innovation in breast cancer genetic epidemiology (2017) (3)
- Dissecting the obesity disease landscape: Identifying gene-gene interactions that are highly associated with body mass index (2014) (3)
- Pharmacogenetics of Between-Individual Variability in Plasma Clearance of Bedaquiline and Clofazimine in South Africa. (2022) (3)
- An Unsupervised Homogenization Pipeline for Clustering Similar Patients using Electronic Health Record Data (2017) (3)
- Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies (2019) (3)
- Impact of integrating genomic data into the electronic health record on genetics care delivery. (2022) (3)
- Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection (2022) (3)
- Faculty Opinions recommendation of GPCRs, G-proteins, effectors and their interactions: human-gpDB, a database employing visualization tools and data integration techniques. (2010) (3)
- ERRATUM: NEXT-GENERATION ANALYSIS OF CATARACTS: DETERMINING KNOWLEDGE DRIVEN GENE-GENE INTERACTIONS USING BIOFILTER, AND GENE-ENVIRONMENT INTERACTIONS USING THE PHENX TOOLKIT. (2014) (3)
- Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population (2019) (2)
- A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank (2021) (2)
- Data Integration for Cancer Clinical Outcome Prediction (2014) (2)
- Meta-Dimensional Analysis of Phenotypes Using the Analysis Tool for Heritable and Environmental Network Associations (ATHENA): Challenges with Building Large Networks (2013) (2)
- Disrupting upstream translation in mRNAs leads to loss-of-function associated with human disease (2020) (2)
- Proceedings of the 10th European conference on Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics (2009) (2)
- Computational approaches for pharmacogenomics. (2005) (2)
- Effect of CYP3A4*22 and PPAR-α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention (2020) (2)
- ACE I/D Polymorphism Modulates Symptomatic Response to Antiarrhythmic Drug Therapy in Patients with Lone Atrial Fibrillation (2007) (2)
- Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection (2021) (2)
- A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population (2021) (2)
- Knowledge-driven genomic interactions: an application in ovarian cancer (2014) (2)
- Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (2)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (2)
- Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure (2022) (2)
- Depression Linked to Frequent Emergency Department Use in Large 10-year Retrospective Analysis of an Integrated Health Care System (2017) (2)
- Abstract 16563: Genetic and Pharmacological Inactivation of ANGPTL3 is Associated With Reduced Atherosclerotic Cardiovascular Disease (2016) (2)
- Abstract 19509: Identifying Genotype-Phenotype Relations in Electronic Medical Record Systems: Application to Warfarin Pharmacogenomics. (2010) (2)
- SARS-CoV-2 seropositivity and seroconversion in patients undergoing active cancer-directed therapy (2021) (2)
- Novel EDGE encoding method enhances ability to identify genetic interactions (2021) (2)
- Quality Control Procedures for Genome‐Wide Association Studies (2022) (2)
- Evaluating the frequency and the impact of pharmacogenetic alleles in an ancestrally diverse Biobank population (2022) (2)
- ACE I/D polymorphism modulates response to antiarrhythmic drug therapy in patients with atrial fibrillation (2005) (2)
- Replication of SCN5A Associations with Electrocardiographic Traits in African Americans from Clinical and Epidemiologic Studies (2014) (2)
- Visualizing genomic information across chromosomes with PhenoGram (2013) (2)
- Abstract 4404: Variation in the 4q25 Chromosomal Locus Predicts New-Onset Atrial Fibrillation after Cardiac Surgery (2008) (2)
- BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge (2013) (1)
- Erratum: Next-generation analysis of cataracts: Determining knowledge driven gene-gene interactions using biofilter, and geneenvironment interactions using the phenx toolkit (Biocomputing (2013) (147-158)) (2015) (1)
- Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity (2018) (1)
- Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide (2018) (1)
- Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network (2016) (1)
- Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank (2022) (1)
- Abstract 15433: Lpa Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins Abstract (2017) (1)
- Genetics of varicose veins reveals polygenic architecture and genetic overlap with arterial and venous disease (2023) (1)
- Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. (2021) (1)
- Diverse convergent evidence in the genetic analysis of complex disease: coordinating omic, informatic, and experimental evidence to better identify and validate risk factors (2014) (1)
- Genomic analyses with biofilter 2.0: knowledge driven filtering, annotation, and model development (2013) (1)
- Evaluation of Parameter Contribution to Neural Network Size and Fitness in ATHENA for Genetic Analysis (2013) (1)
- Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants (2021) (1)
- Genome-wide association study of susceptibility to hospitalised respiratory infections (2021) (1)
- Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci (2021) (1)
- COMPUTATIONAL APPROACHES FOR PHARMACOGENOMICS: SESSION INTRODUCTION (2005) (1)
- Genome-wide association study of susceptibility to hospitalised respiratory infections [version 1; peer review: awaiting peer review] (2021) (1)
- Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data (2019) (1)
- Statistical Impact of Sample Size and Imbalance on Multivariate Analysis in silico and A Case Study in the UK Biobank (2020) (1)
- SARS-CoV-2 Seropositivity and Seroconversion in Patients Undergoing Active Cancer-Directed Therapy. (2021) (1)
- Arrhythmia Risk Genome-and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of (2013) (1)
- Systems and genome-wide approaches unite to provide a route to personalized medicine (2012) (1)
- eQTpLot: an R package for the visualization and colocalization of eQTL and GWAS signals (2020) (1)
- An integrated analysis of genome-wide DNA methylation and genetic variants underlying etoposide-induced cytotoxicity in European and African populations (2014) (1)
- Next-generation analysis of cataracts: determining knowledge driven gene-gene interactions using biofilter, and gene-environment interactions using the Phenx Toolkit*. (2015) (1)
- Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders (2022) (1)
- Real world scenarios in rare variant association analysis: the impact of imbalance and sample size on the power in silico (2019) (1)
- A Multi-Marker Test for Analyzing Paired Genetic Data in Transplantation (2021) (1)
- Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics, 7th European Conference, EvoBIO 2009, Tübingen, Germany, April 15-17, 2009, Proceedings (2009) (1)
- Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program (2023) (1)
- A Primer in Statistical Methods in Genetics (2009) (1)
- PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity (2018) (1)
- Erratum to: The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era (2013) (1)
- eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals (2021) (1)
- Systems and genome-wide approaches unite to provide a route to personalized medicine (2012) (1)
- Editorial: artificial evolution methods in the biological and biomedical sciences (2009) (1)
- Neural network-based multiomics data integration in Alzheimer's disease (2019) (1)
- Inpatient Rehabilitation Outcomes Following Severe COVID-19 Infections: A Retrospective Cohort Study. (2021) (1)
- Are Associated with Erythrocyte Sedimentation Rate (2011) (1)
- Multi-ancestry gene-trait connection landscape using electronic health record (EHR) linked biobank data (2021) (1)
- ATHENA: Identifying interactions between different levels of genomic data associated with cancer clinical outcomes using grammatical evolution neural network (2013) (1)
- Incorporating Domain Knowledge into Evolutionary Computing for Discovering Gene-Gene Interaction (2010) (1)
- Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes (2019) (1)
- Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection (2021) (1)
- An efficient not-only-linear correlation coefficient based on machine learning (2022) (1)
- Benefits of Accurate Imputations in GWAS (2014) (1)
- Discovery and Replication of Gene-Gene Interactions in Multiple Independent Datasets from the Alzheimer Disease Genetics Consortium (2011) (0)
- 3001 canal radiological characterization and waste removal report, Oak Ridge National Laboratory, Oak Ridge, Tennessee (1996) (0)
- Association between triglycerides, known risk SNVs and conserved rare variation in SLC25A40 in a multi-ancestry cohort (2021) (0)
- Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population (2019) (0)
- Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci (2022) (0)
- Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity (2019) (0)
- Abstract 17229: First Trimester Elevated Serum Glucose Values Are Associated With Congenital Heart Disease in the Offspring (2016) (0)
- P662: Estimating UK Biobank population-specific PGx allele and phenotype frequencies using PharmCAT (2023) (0)
- First Trimester Plasma Glucose Values in Non-Diabetic Women are Associated with Risk for Congenital Heart Disease in Offspring (2018) (0)
- Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics (2021) (0)
- Session details: Bioinformatics, computational, systems, and synthetic biology track papers (2011) (0)
- Abstract A10: IL1B haplotypes and risk of gastric precancerous lesions in African Americans and Caucasians in New Orleans (2009) (0)
- Scientific Summaries for Families with ASD (2017) (0)
- The central role of biological data mining in connecting diverse disciplines (2013) (0)
- Abstract 1531: SCN5A Promoter and Enhancer Variants associated with Atrial Fibrillation (2008) (0)
- Gene-Environment Interactions in the Association between Air Pollution and Autism (2014) (0)
- The Genetic Heterogeneity of Multimodal Human Brain Age (2023) (0)
- Contents Vol. 79, 2015 (2015) (0)
- Exome-wide association studies in general and long-lived populations identify genetic variants related to human age (2020) (0)
- A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources (2022) (0)
- Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies (2019) (0)
- Abstract LB222: Performance of polygenic risk scores for GI cancer prediction in an academic biobank (2021) (0)
- P3-240: Genome-wide analysis of gene-gene interaction in Alzheimer's disease (2008) (0)
- Abstract 13242: Complement Receptor 1 Gene Variants are Associated With Erythrocyte Sedimentation Rate (2011) (0)
- P1-355 Joint analysis of candidate genes in AD through data reduction (2006) (0)
- Faculty Opinions recommendation of Genetic heterogeneity in human disease. (2010) (0)
- Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population (2019) (0)
- Abstract 2378: Genetics of the Initial Anticoagulant Response to Warfarin - a Prospective Study (2006) (0)
- Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions. (2023) (0)
- Systems Pharmacogenomics-Bridging the Gap (2012) (0)
- USING ELECTRONIC HEALTH RECORDS TO IDENTIFY MEDICAL COMORBIDITIES OF MOOD DISORDERS (2019) (0)
- Abstract 4408: Using a Large Electronic Medical Record to Validate 4q25 Variants Conferring Risk for Atrial Fibrillation (2008) (0)
- Genetic heterogeneity of four MCI/AD neuroanatomical dimensions discovered via deep learning (2022) (0)
- A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes (2019) (0)
- Acknowledgement to the Reviewers (2009) (0)
- A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers (2018) (0)
- Faculty Opinions recommendation of A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes. (2011) (0)
- A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects (2013) (0)
- Postdoctoral Opportunities (2000) (0)
- Faculty Opinions recommendation of Integrating Omics data for signaling pathways, interactome reconstruction, and functional analysis. (2011) (0)
- Abstract 5871: Genome wide association study of breast density among women of African ancestry (2022) (0)
- Aviation depot level repairable system gains (1990) (0)
- FRONT MATTER (2020) (0)
- ' s response to reviews Title : Synthesis-View : visualization and interpretation of SNP association results for multi-cohort , multi-phenotype data and meta-analysis (2010) (0)
- A comparison of analytical methods for genetic association studies (2009) (0)
- Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index (2022) (0)
- ColocQuiaL: a QTL-GWAS colocalization pipeline (2021) (0)
- Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort (2023) (0)
- Author's response to reviews Title: Discovery and Replication of SNP-SNP Interactions for Quantitative Lipid Traits in over 60,000 Individuals Authors: (2017) (0)
- Leveraging Multi-Ancestry Polygenic Risk Scores for Body Mass Index to Predict Antiretroviral Therapy-Induced Weight Gain* (2022) (0)
- FRONT MATTER (2018) (0)
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network (2011) (0)
- Innovative strategies for annotating the “relationSNP” between variants and molecular phenotypes (2019) (0)
- Abstract 12933: A Genome-Wide Association Analysis to Identify Genomic Modulators of Rate Control Therapy in Patients with Atrial Fibrillation (2011) (0)
- Customizing the electronic health record for delivery of pharmacogenetics (2023) (0)
- Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals (2018) (0)
- Session details: Bioinformatics, computational, systems, and synthetic biology track posters (2011) (0)
- Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network (2015) (0)
- Whole genome sequencing reveals host factors underlying critical Covid-19 Accelerated Article Preview (2022) (0)
- Abstract 15754: The Prevalence of Electronic Health Record-Based Clinical Phenotypes in Patients With Pathogenetic Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy (2015) (0)
- Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications (2023) (0)
- Development of a protocol to monitor for ototoxicity in patients receiving long-term aminoglycoside therapy (2003) (0)
- Pharmacogenetics of dolutegravir plasma exposure among Southern Africans living with HIV (2022) (0)
- Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network (2019) (0)
- Epidemiologic Architecture for Genes Linked to Environment (EAGLE): Association of ARMS2 A69S With Age-Related Macular Degeneration in the National Health and Nutrition Examination Surveys (2010) (0)
- Multidimensional representations in late-life depression: convergence in neuroimaging, cognition, clinical symptomatology and genetics (2021) (0)
- COVID-19 outcomes and the human genome (2020) (0)
- Acknowledgement to the Reviewers (2013) (0)
- Collective feature selection to identify crucial epistatic variants (2018) (0)
- Biocomputing 2020 (2019) (0)
- 17. DIFFERENCES IN PHENOTYPIC ASSOCIATIONS OF GENETIC LIABILITY FOR SUBSTANCE USE BY ANCESTRY AND SEX (2021) (0)
- Sample Size, Power, and Data Simulation (2021) (0)
- Pharmacogenetics of tenofovir renal toxicity in HIV-positive Southern Africans. (2023) (0)
- Mitochondrial DNA variation and HIV-associated sensory neuropathy in CHARTER (2012) (0)
- A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR (2019) (0)
- Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies (2014) (0)
- Abstract 13007: Common and Rare Variants in SCN10A Associated with Atrial Fibrillation (2011) (0)
- ' s response to reviews Title : Rule based classifier for the analysis of gene-gene and gene-environment interactions in genetic association studies (2011) (0)
- Psychosis brain subtypes validated in first-episode cohorts and related to illness remission: results from the PHENOM consortium. (2023) (0)
- Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View (2012) (0)
- Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR) (2015) (0)
- Abstract 360: Genetic Variants Associated With ACE Inhibitor-Associated Angioedema (2012) (0)
- Multi-trait association studies discover pleiotropic loci between Alzheimer’s disease and cardiometabolic traits (2021) (0)
- Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations (2021) (0)
- Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV (2023) (0)
- Reducing Dimensionality in the Search for Gene–Gene Interactions (2014) (0)
- Evolutionary Computation, Machine Learning and Data Mining in Bioinformatics, 8th European Conference, EvoBIO 2010, Istanbul, Turkey, April 7-9, 2010. Proceedings (2010) (0)
- Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci (2017) (0)
- Abstract P225: African American LDL-C GWAS Reveals a Strong Protective SNP Association in APOE; The eMERGE Study (2012) (0)
- A Biologically Informed Method for Detecting Associations with Rare Variants (2012) (0)
- - 1-ATHENA : A Knowledge [ 1 ]-Based Hybrid Backpropagation-Grammatical Evolution Neural Network Algorithm for Discovering Epistasis among Quantitative Trait Loci (2010) (0)
- Genome-Wide Association Studies in Disease Risk Calculation: The Role of Bioinformatics in Patient Care (2012) (0)
- Rapid Identification and Phenotyping of Nonalcoholic Fatty Liver Disease Patients Using an Automated Algorithmic Approach in Diverse, Urban Healthcare Systems (2021) (0)
- P580. Two Schizophrenia Neuroanatomical Signatures From the PHENOM Consortium and Their Association With Psychopathology, Cognition, and Genetics in the Population-Level Samples (2022) (0)
- PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies (2017) (0)
- A simulation study investigating power estimates in phenome-wide association studies (2018) (0)
- eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants (2016) (0)
- Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets (2022) (0)
- A SUPERVISED LEARNING METHOD FOR THE CLASSIFICATION OF ELECTRONIC HEALTH RECORDBASED HEART FAILURE PHENOTYPES (2022) (0)
- Ideas for how informaticians can get involved with COVID-19 research (2020) (0)
- Machine learning optimization of neural network architecture improves the identification of gene-gene and gene-environment interactions (2001) (0)
- Lack of Association between Single Nucleotide Polymorphism rs3811647 in the TF Gene and Iron Status in Patients with Iron Deficiency and Control Subjects (2010) (0)
- Session Introduction (2006) (0)
- Biological knowledge-driven approach to gene-gene interaction analysis in the Alzheimer's Disease Genetics Consortium (2012) (0)
- Faculty Opinions recommendation of Rapid identification of non-human sequences in high-throughput sequencing datasets. (2012) (0)
- EXPLORING RARE VARIATIONS THAT IMPACT REGIONS OF PROTEINS ASSOCIATED WITH ALZHEIMER’S DISEASE (2019) (0)
- P1-35: The common Angiotensinogen (AGT) polymorphism T207M protects from drug-induced QT prolongation (2006) (0)
- FRONT MATTER (2019) (0)
- A biologically informed method for detecting rare variant associations (2016) (0)
- E ff ect of CYP3A4 *22 and PPAR- α Genetic Variants on Platelet Reactivity in Patients Treated with Clopidogrel and Lipid-Lowering Drugs Undergoing Elective Percutaneous Coronary Intervention (2020) (0)
- The central role of biological data mining in connecting diverse disciplines (2013) (0)
- Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts (2016) (0)
- Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes (2018) (0)
- Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity (2018) (0)
- Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms (2021) (0)
- Trends in genomic variation: a view of some of the latest technologies. (2005) (0)
- Erratum: Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record (American Journal of Human Genetics (2010) 86 (560-572)) (2010) (0)
- Correction to: Systematic characterization of germline variants from the DiscovEHR study endometrial carcinoma population (2019) (0)
- Abstract MP16: Multi-trait Gwas Of Atherosclerosis Detects Novel Loci And Potential Therapeutic Targets (2021) (0)
- Biocomputing 2021: Proceedings of the Pacific Symposium, Kohala Coast, Hawaii, USA, January 3-7, 2021 (2020) (0)
- Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies (2015) (0)
- How to Run the Pharmacogenomics Clinical Annotation Tool (PharmCAT) (2022) (0)
- Acknowledgement to the Reviewers (2006) (0)
- ' s response to reviews Methodological Issues in Detecting Gene-Gene Interactions in Breast Cancer Susceptibility : A Title : Population-Based Study in Ontario (2007) (0)
- SCANNING THE PHENOME TO UNCOVER PLEIOTROPIC EFFECTS OF PCSK9 (2017) (0)
- Celebrating parasites (2017) (0)
- Genome‐Wide Association Studies (2021) (0)
- A network of pleiotropic genes for metabolic syndrome and inflammation (2013) (0)
- Estimating the effect size of a hidden causal factor between SNPs and a continuous trait: a mediation model approach (2022) (0)
- Faculty Opinions recommendation of Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. (2011) (0)
- Genome-Wide Association Study (GWAS) Of Venous Thromboembolism (VTE) In African-Americans From The Electronic Medical Records & Genomics (eMERGE) Networkm (2013) (0)
- Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals (2017) (0)
- Faculty of 1000 evaluation for Ten years of pathway analysis: current approaches and outstanding challenges. (2012) (0)
- The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era (2012) (0)
- Rare variants in drug target genes contributing to complex diseases, phenome-wide (2018) (0)
- Abstract IA07: The phenome and pleiotropy: Dissecting the architecture of complex traits. (2012) (0)
- Author Correction: Rare variants in drug target genes contributing to complex diseases, phenome-wide (2018) (0)
- Abstract 12219: Arrhythmia-associated Variants in the SCN5A Promoter and Regulatory Regions (2012) (0)
- Session Introduction: Computational Approaches for Pharmacogenomics (2005) (0)
- Model Validation in Biological Applications of Evolutionary Computation (2004) (0)
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