Gail P. Jarvik

发表

Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records

Marylyn D. Ritchie, Dana C. Crawford, Shefali S. Verma, 2014, Front. Genet..

Prediction of periventricular leukomalacia. Part I: Selection of hemodynamic features using logistic regression and decision tree algorithms

Daniel J. Licht, Chandrasekhar Nataraj, Gail P. Jarvik, 2009, Artif. Intell. Medicine.

Technical desiderata for the integration of genomic data into Electronic Health Records

Isaac S. Kohane, Daniel R. Masys, Nicholas R. Anderson, 2012, J. Biomed. Informatics.

Imputation and quality control steps for combining multiple genome-wide datasets

Marylyn D. Ritchie, Dana C. Crawford, Shefali S. Verma, 2014, Front. Genet..

A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project

Christopher G. Chute, Joshua C. Denny, Marc S. Williams, 2014, AMIA.

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Robert C. Green, Keith Marsolo, Casey Overby Taylor, 2019, American journal of human genetics.

Replication of SCN5A Associations with Electrocardiographic Traits in African Americans from Clinical and Epidemiologic Studies

Marylyn D. Ritchie, Joshua C. Denny, Dana C. Crawford, 2014, EvoApplications.

Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals

Jason H. Moore, Gerard Tromp, Marylyn D. Ritchie, 2017, BioData Mining.

Using PheWAS to Assess Pleiotropy of Genetic Risk Scores for Rheumatoid Arthritis and Coronary Artery Disease in the eMERGE Network

Christopher G. Chute, Lisa Bastarache, Dana C. Crawford, 2012, AMIA.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

Desiderata for computable representations of electronic health records-driven phenotype algorithms

Paul A. Harris, Gerard Tromp, Jie Xu, 2015, J. Am. Medical Informatics Assoc..

Enrichment sampling for a multi-site patient survey using electronic health records and census data

Sarah C. Stallings, Jonathan S. Schildcrout, Gail P. Jarvik, 2019, J. Am. Medical Informatics Assoc..

Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network

Marylyn D. Ritchie, Andrea Hartzler, James Ralston, 2015, Genome Medicine.

Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)

Jason H. Moore, Marylyn D. Ritchie, Shefali S. Verma, 2015, BioData Mining.

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

Suzette J. Bielinski, Christopher G. Chute, Joshua C. Denny, 2012, J. Am. Medical Informatics Assoc..

Impact of HIPAA’s Minimum Necessary Standard on Genomic Data Sharing

Gail P. Jarvik, Barbara J. Evans, 2018, Genetics in Medicine.

User-Centered Design of a Collaborative Genetic Variant Interpretation Tool

Annie T. Chen, Wayne H. Liang, Peter Tarczy-Hornoch, 2017, AMIA.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record

Christopher G. Chute, Marc S. Williams, Peggy L. Peissig, 2015, J. Am. Medical Informatics Assoc..

Using Electronic Health Records to Identify Heart Failure Cohorts with Differentiation for Preserved and Reduced Ejection Fraction

Suzette J. Bielinski, Hongfang Liu, Sunghwan Sohn, 2012, AMIA.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

David R. Crosslin, Gail P. Jarvik, Berta Almoguera, 2014, Front. Genet..

Prediction of periventricular leukomalacia. Part II: Selection of hemodynamic features using computational intelligence

Daniel J. Licht, Chandrasekhar Nataraj, Gail P. Jarvik, 2009, Artif. Intell. Medicine.

Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network

Xinyuan Zhang, Marylyn D. Ritchie, Chunhua Weng, 2018, PSB.

Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network

Casey Overby Taylor, Chunhua Weng, Marc S. Williams, 2019, Front. Genet..

Detectable clonal mosaicism from birth to old age and its relationship to cancer

Ingo Ruczinski, Li-e Wang, William L. Lowe, 2012, Nature Genetics.

Identification of Four Novel Loci in Asthma in European American and African American Populations

Peggy L. Peissig, Jennifer A. Pacheco, Iftikhar J. Kullo, 2017, American journal of respiratory and critical care medicine.

LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins

George Hripcsak, Joshua C. Denny, Peggy L. Peissig, 2018, Circulation.

Mechanistic Phenotypes: An Aggregative Phenotyping Strategy to Identify Disease Mechanisms Using GWAS Data

Gerard Tromp, Yan Guo, Marylyn D. Ritchie, 2013, PloS one.

Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US.

Jonathan S. Schildcrout, Stephanie M. Fullerton, Gail P. Jarvik, 2017, American journal of human genetics.

Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment

David Veenstra, Gail P. Jarvik, Reka Pataky, 2015, Canadian Medical Association Journal.

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Shawn Rynearson, Heidi L. Rehm, Aleksandar Milosavljevic, 2017, Genome Medicine.

Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment

Ellen M. Wijsman, Gail P. Jarvik, Samir S. Deeb, 2003, Human Genetics.

Leveraging the electronic health record to implement genomic medicine

Dan M. Roden, Iftikhar J. Kullo, Gail P. Jarvik, 2012, Genetics in Medicine.

Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Robert C. Green, Andrew J. Saykin, Liana G. Apostolova, 2020, Nature Communications.

The phenotypic legacy of admixture between modern humans and Neandertals

Gerard Tromp, Marylyn D. Ritchie, Joshua C. Denny, 2016, Science.

Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network

Suzette J. Bielinski, Christopher G. Chute, Marylyn D. Ritchie, 2014, PloS one.

Return of results in the genomic medicine projects of the eMERGE network

Iftikhar J. Kullo, Helena Kuivaniemi, Gail P. Jarvik, 2014, Front. Genet..

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

Suzette J. Bielinski, Christopher G. Chute, Marylyn D. Ritchie, 2014, Clinical pharmacology and therapeutics.

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

Christopher G. Chute, Marylyn D. Ritchie, Joshua C. Denny, 2013, Human Genetics.

Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425))

Suzette J. Bielinski, Christian Gieger, Ingo Ruczinski, 2012 .

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

Christopher G. Chute, Marylyn D. Ritchie, Joshua C. Denny, 2013 .

Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts

Gerard Tromp, Marylyn D. Ritchie, Shefali S. Verma, 2016, Human Genetics.

Conducting a large, multi-site survey about patients’ views on broad consent: challenges and solutions

Jonathan S. Schildcrout, Melissa A. Basford, Stephanie M. Fullerton, 2016, BMC Medical Research Methodology.

Erratum: Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))

Robert C. Green, Michael O. Dorschner, Matthew S. Lebo, 2016 .

Research Practice and Participant Preferences: The Growing Gulf

Stephanie M. Fullerton, Gail P. Jarvik, Eric B. Larson, 2011, Science.

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Sara Chandros Hull, Robert C. Green, Sean D. Mooney, 2016 .

Navigating the research–clinical interface in genomic medicine: analysis from the CSER Consortium

Robert C. Green, Gail P. Jarvik, Jonathan S. Berg, 2017, Genetics in Medicine.

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Robert C. Green, Heidi L. Rehm, Levi Garraway, 2013, Genetics in Medicine.

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

Marylyn D. Ritchie, Joshua C. Denny, Eugenia R. McPeek Hinz, 2012, Genetics in Medicine.

Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes

Gail P. Jarvik, Brian L. Browning, Brian H. Shirts, 2013, Genetics in Medicine.

A GWAS Study on Liver Function Test Using eMERGE Network Participants

Keith Marsolo, Marylyn D. Ritchie, Shefali S. Verma, 2015, PloS one.

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

Iftikhar J. Kullo, Gail P. Jarvik, Rongling Li, 2018, Journal of personalized medicine.

Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index

Suzette J. Bielinski, Gerard Tromp, Christopher G. Chute, 2014, Front. Genet..

Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer

Alex P. Reiner, David R. Crosslin, Gail P. Jarvik, 2013, PloS one.